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Publicaties 2013

International scientific publications

Abdelmalik N, van Haelst M, Mancini G, Schrander-Stumpel C, Marcus-Soekarman D, Hennekam R, Cobben JM. Diagnostic Outcomes of 27 Children Referred by Pediatricians to a Genetics Clinic in the Netherlands with Suspicion of Fetal Alcohol Spectrum Disorders. American Journal of Medical Genetics, Part A. 2013;161(2):254-60.

 

Abs E, Goorden SM, Schreiber J, Overwater IE, Hoogeveen-Westerveld M, Bruinsma CF, Aganovic E, Borgesius NZ, Nellist M, Elgersma Y. Torc1-Dependent Epilepsy Caused by Acute Biallelic Tsc1 Deletion in Adult Mice. Annals of neurology. 2013;74(4):569-79.

 

Allebrandt KV, Amin N, Müller-Myhsok B, Esko T, Teder-Laving M, Azevedo RVDM, Hayward C, Van Mill J, Vogelzangs N, Green EW, Melville SA, Lichtner P, Wichmann HE, Oostra BA, Janssens ACJW, Campbell H, Wilson JF, Hicks AA, Pramstaller PP, Dogas Z, Rudan I, Merrow M, Penninx B, Kyriacou CP, Metspalu A, Van Duijn CM, Meitinger T, Roenneberg T. A Katp Channel Gene Effect on Sleep Duration: From Genome-Wide Association Studies to Function in Drosophila. Molecular Psychiatry. 2013;18(1):122-32.

 

Alves MM, Sribudiani Y, Brouwer RWW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, Van Ijcken WFJ, Eggen BJL, Te Meerman GJ, Hofstra RMW. Contribution of Rare and Common Variants Determine Complex Diseases-Hirschsprung Disease as a Model. Developmental Biology. 2013;382(1):320-9.

 

Amin N, Hottenga JJ, Hansell NK, Janssens ACJW, De Moor MHM, Madden PAF, Zorkoltseva IV, Penninx BW, Terracciano A, Uda M, Tanaka T, Esko T, Realo A, Ferrucci L, Luciano M, Davies G, Metspalu A, Abecasis GR, Deary IJ, Raikkonen K, Bierut LJ, Costa PT, Saviouk V, Zhu G, Kirichenko AV, Isaacs A, Aulchenko YS, Willemsen G, Heath AC, Pergadia ML, Medland SE, Axenovich TI, De Geus E, Montgomery GW, Wright MJ, Oostra BA, Martin NG, Boomsma DI, Van Duijn CM. Refining Genome-Wide Linkage Intervals Using a Meta-Analysis of Genome-Wide Association Studies Identifies Loci Influencing Personality Dimensions. European Journal of Human Genetics. 2013;21(8):876-82.

 

Ammerpohl O, Bens S, Appari M, Werner R, Korn B, Drop SL, Verheijen F, van der Zwan Y, Bunch T, Hughes I, Cools M, Riepe FG, Hiort O, Siebert R, Holterhus PM. Androgen Receptor Function Links Human Sexual Dimorphism to Dna Methylation. PLoS One. 2013;8(9):e73288.

 

Ansari M, McKeigue PM, Skerka C, Hayward C, Rudan I, Vitart V, Polasek O, Armbrecht AM, Yates JR, Vatavuk Z, Bencic G, Kolcic I, Oostra BA, Van Duijn CM, Campbell S, Stanton CM, Huffman J, Shu X, Khan JC, Shahid H, Harding SP, Bishop PN, Deary Ian J IJ, Moore AT, Dhillon B, Rudan P, Zipfel PF, Sim RB, Hastie ND, Campbell H, Wright AF. Genetic Influences on Plasma Cfh and Cfhr1 Concentrations and Their Role in Susceptibility to Age-Related Macular Degeneration. Human Molecular Genetics. 2013;22(23):4857-69.

 

Bagni C, Oostra BA. Fragile X Syndrome: From Protein Function to Therapy. American Journal of Medical Genetics, Part A. 2013;161(11):2809-21.

 

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, Van bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, De klein A, Stockton DW, Justice MJ, Scott DA. Deficiency of Fras1-Related Extracellular Matrix 1 (Frem1) Causes Congenital Diaphragmatic Hernia in Humans and Mice. Human Molecular Genetics. 2013;22(5):1026-38.

 

Berardelli A, Wenning GK, Antonini A, Berg D, Bloem BR, Bonifati V, Brooks D, Burn DJ, Colosimo C, Fanciulli A, Ferreira J, Gasser T, Grandas F, Kanovsky P, Kostic V, Kulisevsky J, Oertel W, Poewe W, Reese JP, Relja M, Ruzicka E, Schrag A, Seppi K, Taba P, Vidailhet M. Efns/Mds-Es Recommendations for the Diagnosis of Parkinson's Disease. European Journal of Neurology. 2013;20(1):16-34.

 

Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, Heijer MD, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson Å, Johnson T, Kanoni S, Kleber ME, König IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Müller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, O Cookson W, De Faire U, De Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrières J, Franke L, Frau F, Gejman PV, Grallert H, Grönberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hyppönen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kähönen M, Kathiresan S, Kee F, Khaw KT, Kivimäki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindström J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, März W, Leach IM, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Mühleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Pütter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stancáková A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van Der Klauw MM, Van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widén E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jöckel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimäki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njølstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sørensen TI, Spector TD, Stefansson K, Tönjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, Van Der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O'Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, Van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ, Ingelsson E. Genome-Wide Meta-Analysis Identifies 11 New Loci for Anthropometric Traits and Provides Insights into Genetic Architecture. Nature Genetics. 2013;45(5):501-12.

 

Blijdorp K, Van Den Heuvel-Eibrink MM, Pieters R, Pluijm SMF, Wagner A, Segers H, Van Der Lely AJ, Neggers SJCMM. Final Height and Igf1 in Adult Survivors of Wilms Tumour. European Journal of Endocrinology. 2013;169(4):445-51.

 

Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Vergote I, Lambrechts S, Despierre E, Risch HA, Gonzalez-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guenel P, Teoman A, Milne RL, Garcia JJ, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer EJ, Haiman CA, Wang-Gohrke S, Andrulis IL, Moysich KB, Hopper JL, Odunsi K, Lindblom A, Giles GG, Brenner H, Simard J, Lurie G, Fasching PA, Carney ME, Radice P, Wilkens LR, Swerdlow A, Goodman MT, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Durst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova NV, Dork T, Pelttari LM, Zheng W, Leminen A, Anton-Culver H, Bunker CH, Kristensen V, Ness RB, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu AH, Harter P, Teo SH, Schwaab I, Shu XO, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan BY, Sangrajrang S, Kjaer SK, Gaborieau V, Jensen A, Eccles D, Hogdall E, Shen CY, Brown J, Woo YL, Shah M, Azmi MA, Luben R, Omar SZ, Czene K, Vierkant RA, Nordestgaard BG, Flyger H, Vachon C, Olson JE, Wang X, Levine DA, Rudolph A, Weber RP, Flesch-Janys D, Iversen E, Nickels S, Schildkraut JM, Silva Idos S, Cramer DW, Gibson L, Terry KL, Fletcher O, Vitonis AF, van der Schoot CE, Poole EM, Hogervorst FB, Tworoger SS, Liu J, Bandera EV, Li J, Olson SH, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomaki K, Salvesen HB, Muranen TA, Wik E, Brouwers B, Krakstad C, Wauters E, Halle MK, Wildiers H, Kiemeney LA, Mulot C, Aben KK, Laurent-Puig P, Altena AM, Truong T, Massuger LF, Benitez J, Pejovic T, Perez JI, Hoatlin M, Zamora MP, Cook LS, Balasubramanian SP, Kelemen LE, Schneeweiss A, Le ND, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin MJ, Miller N, Cybulski C, Henderson BE, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang HP, Mulligan AM, Glendon G, Engelholm SA, Knight JA, Hogdall CK, Apicella C, Gore M, Tsimiklis H, Song H, Southey MC, Jager A, den Ouweland AM, Brown R, Martens JW, Flanagan JM, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore AS, Baglietto L, McGuire V, Stegmaier C, Sieh W, Muller H, Arndt V, Labreche F, Gao YT, Goldberg MS, Yang G, Dumont M, McLaughlin JR, Hartmann A, Ekici AB, Beckmann MW, Phelan CM, Lux MP, Permuth-Wey J, Peissel B, Sellers TA, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus SJ, Orr N, Menon U, Pearce CL, Bruning T, Pike MC, Ko YD, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock SJ, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka IK, Pylkas K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar RA, Durda K, Jaworska K, Hartikainen JM, Kosma VM, Kataja V, Antonenkova NN, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler RK, Ito H, Iwata H, Tajima K, Tseng CC, Stram DO, van den Berg D, Yip CH, Ikram MK, Teh YC, Cai H, Lu W, Signorello LB, Cai Q, Noh DY, Yoo KY, Miao H, Iau PT, Teo YY, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung CN, Yu JC, Hou MF, Healey CS, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck TR, Piedmonte M, Singer CF, Friedman E, Thomassen M, Offit K, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Garber J, Narod SA, Weitzel JN, Montagna M, Olah E, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Imyanitov EN, Tihomirova L, Arun BK, Campbell I, Mensenkamp AR, van Asperen CJ, van Roozendaal KE, Meijers-Heijboer H, Collee JM, Oosterwijk JC, Hooning MJ, Rookus MA, van der Luijt RB, Os TA, Evans DG, Frost D, Fineberg E, Barwell J, Walker L, Kennedy MJ, Platte R, Davidson R, Ellis SD, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova OM, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle AB, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg A, Melin B, Rantala J, Soller M, Nathanson KL, Domchek SM, Rodriguez GC, Salani R, Kaulich DG, Tea MK, Paluch SS, Laitman Y, Skytte AB, Kruse TA, Jensen UB, Robson M, Gerdes AM, Ejlertsen B, Foretova L, Savage SA, Lester J, Soucy P, Kuchenbaecker KB, Olswold C, Cunningham JM, Slager S, Pankratz VS, Dicks E, Lakhani SR, Couch FJ, Hall P, Monteiro AN, Gayther SA, Pharoah PD, Reddel RR, Goode EL, Greene MH, Easton DF, Berchuck A, Antoniou AC, Chenevix-Trench G, Dunning AM. Multiple Independent Variants at the Tert Locus Are Associated with Telomere Length and Risks of Breast and Ovarian Cancer. Nat Genet. 2013;45(4):371-84, 84e1-2.

 

Brands M, Roelants J, de Krijger R, Bogers A, Reuser A, van der Ploeg A, Helbing W. Macrophage Involvement in Mitral Valve Pathology in Mucopolysaccharidosis Type Vi (Maroteaux-Lamy Syndrome). American Journal of Medical Genetics, Part A. 2013;161(10):2550-3.

 

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, Ploeg ATVD, Reuser AJ. Mucopolysaccharidosis Type Vi Phenotypes-Genotypes and Antibody Response to Galsulfase. Orphanet Journal of Rare Diseases. 2013;8(1).

 

Brands MMMG, Oussoren E, Ruijter GJG, Vollebregt AAM, van den Hout HMP, Joosten KFM, Hop WCJ, Plug I, Van der Ploeg AT. Up to Five Years Experience with 11 Mucopolysaccharidosis Type Vi Patients. Molecular Genetics and Metabolism. 2013;109(1):70-6.

 

Broer L, Codd V, Nyholt DR, Deelen J, Mangino M, Willemsen G, Albrecht E, Amin N, Beekman M, De Geus EJC, Henders A, Nelson CP, Steves CJ, Wright MJ, De Craen AJM, Isaacs A, Matthews M, Moayyeri A, Montgomery GW, Oostra BA, Vink JM, Spector TD, Slagboom PE, Martin NG, Samani NJ, Van Duijn CM, Boomsma DI. Meta-Analysis of Telomere Length in 19 713 Subjects Reveals High Heritability, Stronger Maternal Inheritance and a Paternal Age Effect. European Journal of Human Genetics. 2013;21(10):1163-8.

 

Brosens E, Eussen H, Van Bever Y, Van Der Helm RM, Ijsselstijn H, Zaveri HP, Wijnen R, Scott DA, Tibboel D, De Klein A. Vacterl Association Etiology: The Impact of De Novo and Rare Copy Number Variations. Molecular Syndromology. 2013;4(1-2):20-6.

 

Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJM, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St. Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, Van Leeuwen EM, Wilson JF, Pennell CE, Van Duijn CM, De Jong PTVM, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo Jr RP, Lass Jr JH, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MKH, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, MacKey DA, Klaver CCW, Wong TY, Saw SM, Baird PN. Nine Loci for Ocular Axial Length Identified through Genome-Wide Association Studies, Including Shared Loci with Refractive Error. American Journal of Human Genetics. 2013;93(2):264-77.

 

Corsten-Janssen N, Kerstjens-Frederikse WS, Du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JEH, Hove HD, Heimdal KR, Rustad CF, Hennekam RCM, Hofstra RMW, Hoefsloot LH, Van Ravenswaaij-Arts CMA, Kapusta L. The Cardiac Phenotype in Patients with a Chd7 Mutation. Circulation: Cardiovascular Genetics. 2013;6(3):248-54.

 

Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FBL, Peock S, Stoppa-Lyonnet D, Jakubowska A, Radice P, Schmutzler RK, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M, Hansen TVO, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CHM, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HEJ, Gille JJP, Ausems MGEM, Blok MJ, Ligtenberg MJL, Rookus MA, Devilee P, Verhoef S, van Os TAM, Wijnen JT, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BHF, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Thorne H, Niedermayr E, Borg Å, Olsson H, Jernström H, Henriksson K, Harbst K, Soller M, Loman N, Kristoffersson U, Öfverholm A, Nordling M, Karlsson P, Einbeigi Z, von Wachenfeldt A, Liljegren A, Lindblom A, Arver B, Bustinza GB, Rantala J, Melin B, Ardnor CE, Emanuelsson M, Ehrencrona H, Pigg MH, Rosenquist R, Stenmark-Askmalm M, Liedgren S, Rookus MA, Hogervorst FBL, Verhoef S, van Leeuwen FE, Schmidt MK, de Lange J, Collée JM, van den Ouweland AMW, Hooning MJ, Seynaeve C, van Asperen CJ, Wijnen JT, Tollenaar RA, Devilee P, van Cronenburg TCTEF, Kets CM, Mensenkamp AR, Ausems MGEM, van der Luijt RB, Aalfs CM, van Os TAM, Gille JJP, Waisfisz Q, Meijers-Heijboer HEJ, Gómez-Garcia EB, Blok MJ, Oosterwijk JC, van der Hout H, Mourits MJ, de Bock GH, Peock S, Frost D, Ellis S, Fineberg E, Platte R, Miedzybrodzka Z, Gregory H, Morrison P, Jeffers L, Cole T, Ong KR, Hoffman J, Donaldson A, James M, Tischkowitz M, Paterson J, Taylor A, Murray A, Rogers MT, McCann E, Kennedy MJ, 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Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG. Prenatal Diagnostic Testing of the Noonan Syndrome Genes in Fetuses with Abnormal Ultrasound Findings. European journal of human genetics : EJHG. 2013;21(9):936-42.

 

Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Clinical and Mutation Data in 12 Patients with the Clinical Diagnosis of Nager Syndrome. Human Genetics. 2013;132(8):885-98.

 

Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SMJ, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Westenberg HGM, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. PLoS Genetics. 2013;9(10).

 

de Die-Smulders CEM, de Wert GMWR, Liebaers I, Tibben A, Evers-kiebooms G. Reproductive Options for Prospective Parents in Families with Huntington's Disease: Clinical, Psychological and Ethical Reflections. Human Reproduction Update. 2013;19(3):304-15.

 

de Rooij JDE, Hollink IHIM, Arentsen-Peters STCJM, van Galen JF, Berna Beverloo H, Baruchel A, Trka J, Reinhardt D, Sonneveld E, Zimmermann M, Alonzo TA, Pieters R, Meshinchi S, van den Heuvel-Eibrink MM, Zwaan CM. Nup98/Jarid1a Is a Novel Recurrent Abnormality in Pediatric Acute Megakaryoblastic Leukemia with a Distinct Hox Gene Expression Pattern. Leukemia. 2013;12:2280-8.

 

Demirkan A, Isaacs A, Ugocsai P, Liebisch G, Struchalin M, Rudan I, Wilson JF, Pramstaller PP, Gyllensten U, Campbell H, Schmitz G, Oostra BA, van Duijn CM. Plasma Phosphatidylcholine and Sphingomyelin Concentrations Are Associated with Depression and Anxiety Symptoms in a Dutch Family-Based Lipidomics Study. Journal of Psychiatric Research. 2013;47(3):357-62.

 

Den Heijer M, Seynaeve C, Vanheusden K, Timman R, Duivenvoorden HJ, Tilanus-Linthorst M, Menke-Pluijmers MB, Tibben A. Long-Term Psychological Distress in Women at Risk for Hereditary Breast Cancer Adhering to Regular Surveillance: A Risk Profile. Psycho-Oncology. 2013;22(3):598-604.

 

Den Heijer M, Van Asperen CJ, Harris H, Nippert I, Schmidtke J, Bouhnik AD, Julian-Reynier C, Evans DG, Tibben A. International Variation in Physicians' Attitudes Towards Prophylactic Mastectomy - Comparison between France, Germany, the Netherlands and the United Kingdom. European Journal of Cancer. 2013;49(13):2798-805.

 

Den Hoed M, Eijgelsheim M, Esko T, Brundel BJJM, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P, Bochud M, Boucher G, Cornalis MC, Gudbjartsson D, Hadley D, Van Der Harst P, Hayward C, Den Heijer M, Igl W, Jackson AU, Kutalik Z, Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M, Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St. Pourcain B, Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L, Wheeler W, Zhang W, Draisma HHM, Feitosa MF, Kerr KF, Lind PA, Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L, Absher D, Albert CM, Alonso A, Arking DE, De Bakker PIW, Balkau B, Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock SJ, Chines PS, Chung M, Darbar D, Dina C, Dörr M, Elliott P, Felix SB, Fischer K, Fuchsberger C, De Geus EJC, Goyette P, Gudnason V, Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA, Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK, Johansson Å, Junttila J, Kääb S, Kanon B, Ketkar S, Khaw KT, Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P, Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL, Lynch SN, Markus MRP, Marques-Vidal P, Leach IM, McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC, Müller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ, Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP, Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA, Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N, Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG, Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen G, Wilson JF, Witteman JCM, Wong A, Wong Q, Jamshidi Y, Zitting P, Boer JMA, Boomsma DI, Borecki IB, Van Duijn CM, Ekelund U, Forouhi NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA, Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T, Rotter JI, Van Der Schouw YT, Verschuren WMM, Walker M, Albanes D, Arnar DO, Assimes TL, Bandinelli S, Boehnke M, De Boer RA, Bouchard C, Caulfield WLM, Chambers JC, Curhan G, Cusi D, Eriksson J, Ferrucci L, Van Gilst WH, Glorioso N, De Graaf J, Groop L, Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C, Isomaa B, Jarvelin MR, Jula A, Kähönen M, Kiemeney LA, Van Der Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimäki T, Lokki MLL, Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L, Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP, Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, Van Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G, Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann J, Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor PT, Stricker BHC, Metspalu A, Perola M, Beckmann JS, Smith GD, Stefansson K, Wareham NJ, Munroe PB, Sibon OCM, Milan DJ, Snieder H, Samani NJ, Loos RJF. Identification of Heart Rate-Associated Loci and Their Effects on Cardiac Conduction and Rhythm Disorders. Nature Genetics. 2013;45(6):621-31.

 

Dharuri H, Henneman P, Demirkan A, van Klinken JB, Mook-Kanamori DO, Wang-Sattler R, Gieger C, Adamski J, Hettne K, Roos M, Suhre K, Van Duijn CM, van Dijk KW, t Hoen PAC, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS, Kirichenko AV, Janssens ACJW, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen L, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L, Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V, Witteman JCM, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G. Automated Workflow-Based Exploitation of Pathway Databases Provides New Insights into Genetic Associations of Metabolite Profiles. BMC Genomics. 2013;14(1).

 

Elfferich P, Van Royen ME, Van De Wijngaart DJ, Trapman J, Drop SLS, Van Den Akker ELT, Lusher SJ, Bosch R, Bunch T, Hughes IA, Houtsmuller AB, Cools M, Faradz SMH, Bisschop PH, Bunck MCM, Oostdijk W, Brüggenwirth HT, Brinkmann AO. Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome. Sexual Development. 2013;7(5):223-34.

 

Fall T, Hägg S, Mägi R, Ploner A, Fischer K, Horikoshi M, Sarin AP, Thorleifsson G, Ladenvall C, Kals M, Kuningas M, Draisma HHM, Ried JS, van Zuydam NR, Huikari V, Mangino M, Sonestedt E, Benyamin B, Nelson CP, Rivera NV, Kristiansson K, Shen Hy, Havulinna AS, Dehghan A, Donnelly LA, Kaakinen M, Nuotio ML, Robertson N, de Bruijn RFAG, Ikram MA, Amin N, Balmforth AJ, Braund PS, Doney ASF, Döring A, Elliott P, Esko T, Franco OH, Gretarsdottir S, Hartikainen AL, Heikkilä K, Herzig KH, Holm H, Hottenga JJ, Hyppönen E, Illig T, Isaacs A, Isomaa B, Karssen LC, Kettunen J, Koenig W, Kuulasmaa K, Laatikainen T, Laitinen J, Lindgren C, Lyssenko V, Läärä E, Rayner NW, Männistö S, Pouta A, Rathmann W, Rivadeneira F, Ruokonen A, Savolainen MJ, Sijbrands EJG, Small KS, Smit JH, Steinthorsdottir V, Syvänen AC, Taanila A, Tobin MD, Uitterlinden AG, Willems SM, Willemsen G, Witteman J, Perola M, Evans A, Ferrières J, Virtamo J, Kee F, Tregouet DA, Arveiler D, Amouyel P, Ferrario MM, Brambilla P, Hall AS, Heath AC, Madden PAF, Martin NG, Montgomery GW, Whitfield JB, Jula A, Knekt P, Oostra B, van Duijn CM, Penninx BWJH, Davey Smith G, Kaprio J, Samani NJ, Gieger C, Peters A, Wichmann HE, Boomsma DI, de Geus EJC, Tuomi TM, Power C, Hammond CJ, Spector TD, Lind L, Orho-Melander M, Palmer CNA, Morris AD, Groop L, Järvelin MR, Salomaa V, Vartiainen E, Hofman A, Ripatti S, Metspalu A, Thorsteinsdottir U, Stefansson K, Pedersen NL, McCarthy MI, Ingelsson E, Prokopenko I. The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis. PLoS Medicine. 2013;10(6).

 

Fernández-Rhodes L, Demerath EW, Cousminer DL, Tao R, Dreyfus JG, Esko T, Smith AV, Gudnason V, Harris TB, Launer L, McArdle PF, Yerges-Armstrong LM, Elks CE, Strachan DP, Kutalik Z, Vollenweider P, Feenstra B, Boyd HA, Metspalu A, Mihailov E, Broer L, Carola Zillikens M, Oostra B, Van Duijn CM, Lunetta KL, Perry JRB, Murray A, Koller DL, Lai D, Corre T, Toniolo D, Albrecht E, Stöckl D, Grallert H, Gieger C, Hayward C, Polasek O, Rudan I, Wilson JF, He C, Kraft P, Hu FB, Hunter DJ, Hottenga JJ, Willemsen G, Boomsma DI, Byrne EM, Martin NG, Montgomery GW, Warrington NM, Pennell CE, Stolk L, Visser JA, Hofman A, Uitterlinden AG, Rivadeneira F, Lin P, Fisher SL, Bierut LJ, Crisponi L, Porcu E, Mangino M, Zhai G, Spector TD, Buring JE, Rose LM, Ridker PM, Poole C, Hirschhorn JN, Murabito JM, Chasman DI, Widen E, North KE, Ong KK, Franceschini N. Association of Adiposity Genetic Variants with Menarche Timing in 92,105 Women of European Descent. American Journal of Epidemiology. 2013;178(3):451-60.

 

Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ. Complex Craniosynostosis Is Associated with the 2p15p16.1 Microdeletion Syndrome. American Journal of Medical Genetics, Part A. 2013;161(2):244-53.

 

Florisson JMG, Verkerk AJMH, Huigh D, Hoogeboom AJM, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IMJ, van der Spek PJ. Boston Type Craniosynostosis: Report of a Second Mutation in Msx2. American Journal of Medical Genetics, Part A. 2013;161(10):2626-33.

 

Gantois I, Pop AS, de Esch CEF, Buijsen RAM, Pooters T, Gomez-Mancilla B, Gasparini F, Oostra BA, D'Hooge R, Willemsen R. Chronic Administration of Afq056/Mavoglurant Restores Social Behaviour in Fmr1 Knockout Mice. Behavioural Brain Research. 2013;239(1):72-9.

 

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Exome Sequencing Reveals a Novel Moroccan Founder Mutation in Slc19a3 as a New Cause of Early-Childhood Fatal Leigh Syndrome. Brain. 2013;136(Pt 3):882-90.

 

Goldstein AM, Hofstra RMW, Burns AJ. Building a Brain in the Gut: Development Of the Enteric Nervous System. Clinical Genetics. 2013;83(4):307-16.

 

Gopie JP, Mureau MAM, Seynaeve C, Ter Kuile MM, Menke-Pluymers MBE, Timman R, Tibben A. Body Image Issues after Bilateral Prophylactic Mastectomy with Breast Reconstruction in Healthy Women at Risk for Hereditary Breast Cancer. Familial Cancer. 2013;12(3):479-87.

 

Gopie JP, Timman R, Hilhorst MT, Hofer SOP, Mureau MAM, Tibben A. The Short-Term Psychological Impact of Complications after Breast Reconstruction. Psycho-Oncology. 2013;22(2):290-8.

 

Graff M, Ngwa JS, Workalemahu T, Homuth G, Schipf S, Teumer A, Völzke H, Wallaschofski H, Abecasis GR, Edward L, Francesco C, Sanna S, Scheet P, Schlessinger D, Sidore C, Xiao X, Wang Z, Chanock SJ, Jacobs KB, Hayes RB, Hu F, Van Dam RM, Crout RJ, Marazita ML, Shaffer JR, Atwood LD, Fox CS, Heard-Costa NL, White C, Choh AC, Czerwinski SA, Demerath EW, Dyer TD, Towne B, Amin N, Oostra BA, Van Duijn CM, Zillikens MC, Esko T, Nelis M, Nikopensius T, Metspalu A, Strachan DP, Monda K, Qi L, North KE, Cupples LA, Gordon-Larsen P, Berndt SI. Genome-Wide Analysis of Bmi in Adolescents and Young Adults Reveals Additional Insight into the Effects of Genetic Loci over the Life Course. Human Molecular Genetics. 2013;22(17):3597-607.

 

Gröschel S, Schlenk RF, Engelmann J, Rockova V, Teleanu V, Kühn MWM, Eiwen K, Erpelinck C, Havermans M, Lübbert M, Germing U, Schmidt-Wolf IGH, Beverloo HB, Schuurhuis GJ, Ossenkoppele GJ, Schlegelberger B, Verdonck LF, Vellenga E, Verhoef G, Vandenberghe P, Pabst T, Bargetzi M, Krauter J, Ganser A, Valk PJM, Löwenberg B, Döhner K, Döhner H, Delwel R. Deregulated Expression of Evi1 Defines a Poor Prognostic Subset of Mll-Rearranged Acute Myeloid Leukemias: A Study of the German-Austrian Acute Myeloid Leukemia Study Group and the Dutch-Belgian-Swiss Hovon/Sakk Cooperative Group. Journal of Clinical Oncology. 2013;31(1):95-103.

 

Güngör D, De Vries JM, Brusse E, Kruijshaar ME, Hop WCJ, Murawska M, Van den Berg LEM, Reuser AJJ, Van Doorn PA, Hagemans MLC, Plug I, Van der Ploeg AT. Enzyme Replacement Therapy and Fatigue in Adults with Pompe Disease. Molecular Genetics and Metabolism. 2013;109(2):174-8.

 

Güngör D, Kruijshaar ME, Plug I, D'Agostino RB, Hagemans MLC, Van Doorn PA, Reuser AJJ, Van Der Ploeg AT. Impact of Enzyme Replacement Therapy on Survival in Adults with Pompe Disease: Results from a Prospective International Observational Study. Orphanet Journal of Rare Diseases. 2013;8(1).

 

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GMH, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Mutation Spectrum in Rab3gap1, Rab3gap2, and Rab18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Human Mutation. 2013;34(5):686-96.

 

Harakalova M, Van Der Smagt J, De Kovel CGF, Slot RV, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Incomplete Segregation of Myh11 Variants with Thoracic Aortic Aneurysms and Dissections and Patent Ductus Arteriosus. European Journal of Human Genetics. 2013;21(5):487-93.

 

Hek K, Demirkan A, Lahti J, Terracciano A, Teumer A, Cornelis MC, Amin N, Bakshis E, Baumert J, Ding J, Liu Y, Marciante K, Meirelles O, Nalls MA, Sun YV, Vogelzangs N, Yu L, Bandinelli S, Benjamin EJ, Bennett DA, Boomsma D, Cannas A, Coker LH, De Geus E, De Jager PL, Diez-Roux AV, Purcell S, Hu FB, Rimm EB, Hunter DJ, Jensen MK, Curhan G, Rice K, Penman AD, Rotter JI, Sotoodehnia N, Emeny R, Eriksson JG, Evans DA, Ferrucci L, Fornage M, Gudnason V, Hofman A, Illig T, Kardia S, Kelly-Hayes M, Koenen K, Kraft P, Kuningas M, Massaro JM, Melzer D, Mulas A, Mulder CL, Murray A, Oostra BA, Palotie A, Penninx B, Petersmann A, Pilling LC, Psaty B, Rawal R, Reiman EM, Schulz A, Shulman JM, Singleton AB, Smith AV, Sutin AR, Uitterlinden AG, Völzke H, Widen E, Yaffe K, Zonderman AB, Cucca F, Harris T, Ladwig KH, Llewellyn DJ, Räikkönen K, Tanaka T, Van Duijn CM, Grabe HJ, Launer LJ, Lunetta KL, Mosley Jr TH, Newman AB, Tiemeier H, Murabito J. A Genome-Wide Association Study of Depressive Symptoms. Biological Psychiatry. 2013;73(7):667-78.

 

Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L, Vermeulen E, Salvaterra E, Tibben A, Dierickx K. Developing a Policy for Paediatric Biobanks: Principles for Good Practice. European Journal of Human Genetics. 2013;21(1):2-7.

 

Hoedemaekers YM, Cohen-Overbeek TE, Frohn-Mulder IME, Dooijes D, Majoor-Krakauer DF. Prenatal Ultrasound Diagnosis of Myh7 Non-Compaction Cardiomyopathy. Ultrasound in Obstetrics and Gynecology. 2013;41(3):336-9.

 

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Functional Assessment of Tsc2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Human Mutation. 2013;34(2):409-10.

 

Hopman S, Merks J, Eussen H, Douben H, Snijder S, Hennekam R, De Klein A, Caron H. Structural Genome Variations in Individuals with Childhood Cancer and Tumour Predisposition Syndromes. European Journal of Cancer. 2013;49(9):2170-8.

 

Hopman SMJ, Merks JHM, De Borgie CAJM, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, Van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam RCM. The Development of a Clinical Screening Instrument for Tumour Predisposition Syndromes in Childhood Cancer Patients. European Journal of Cancer. 2013;49(15):3247-54.

 

Isaacs A, Willems SM, Bos D, Dehghan A, Hofman A, Arfan Ikram M, Uitterlinden AG, Oostra BA, Franco OH, Witteman JC, Van Duijn CM. Risk Scores of Common Genetic Variants for Lipid Levels Influence Atherosclerosis and Incident Coronary Heart Disease. Arteriosclerosis, Thrombosis, and Vascular Biology. 2013;33(9):2233-9.

 

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RMW, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S. Chromosome 21 Scan in Down Syndrome Reveals Dscam as a Predisposing Locus in Hirschsprung Disease. PLoS ONE. 2013;8(5).

 

Koopmans AE, Klein AD, Naus NC, Killick E. Diagnosis and Management of Uveal Melanoma. European Ophthalmic Review. 2013;7(1):56-60.

 

Koopmans AE, Vaarwater J, Paridaens D, Naus NC, Kilic E, De Klein A. Patient Survival in Uveal Melanoma Is Not Affected by Oncogenic Mutations in Gnaq and Gna11. British Journal of Cancer. 2013;109(2):493-6.

 

Korsse SE, Biermann K, Offerhaus GJA, Wagner A, Dekker E, Mathus-Vliegen EMH, Kuipers EJ, van Leerdam ME, van Veelen W. Identification of Molecular Alterations in Gastrointestinal Carcinomas and Dysplastic Hamartomas in Peutz-Jeghers Syndrome. Carcinogenesis. 2013;34(7):1611-9.

 

Kowalczyk M, Tomaszewska A, Podbiol-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kaluzewski B, Zajaczek S, Srebniak MI. Another Rare Case of a Child with De Novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-Cgh. Cytogenetic and genome research. 2013;139(1):9-16.

 

Lopes da Fonseca T, Correia A, Hasselaar W, van der Linde HC, Willemsen R, Outeiro TF. The Zebrafish Homologue of Parkinson's Disease Atp13a2 Is Essential for Embryonic Survival. Brain Research Bulletin. 2013;90(1):118-26.

 

Lopes MC, Hysi PG, Verhoeven VJM, Macgregor S, Hewitt AW, Montgomery GW, Cumberland P, Vingerling JR, Young TL, van Duijn CM, Oostra B, Uitterlinden AG, Rahi JS, Mackey DA, Klaver CCW, Andrew T, Hammond CJ. Identification of a Candidate Gene for Astigmatism. Investigative Ophthalmology and Visual Science. 2013;54(2):1260-7.

 

Mazzolini R, Rodrigues P, Bazzocco S, Dopeso H, Ferreira AM, Mateo-Lozano S, Andretta E, Woerner SM, Alazzouzi H, Landolfi S, Hernandez-Losa J, MacAya I, Suzuki H, Ramõn Y Cajal S, Mooseker MS, Mariadason JM, Gebert J, Hofstra RMW, Reventõs J, Yamamoto H, Schwartz Jr S, Arango D. Brush Border Myosin Ia Inactivation in Gastric but Not Endometrial Tumors. International Journal of Cancer. 2013;132(8):1790-9.

 

McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, Herrera J, Houlden H, Hoexter M, Isla C, Lees A, Lorenzo-Betancor O, Mencacci NE, Pastor P, Pappata S, Pellecchia MT, Silveria-Moriyama L, Varrone A, Foltynie T, Schapira AHV. Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis. PLoS ONE. 2013;8(7).

 

Menko FH, Aalfs CM, Henneman L, Stol Y, Wijdenes M, Otten E, Ploegmakers MMJ, Legemaate J, Smets EMA, De Wert GMWR, Tibben A. Informing Family Members of Individuals with Lynch Syndrome: A Guideline for Clinical Geneticists.

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Meuwissen MEC, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MFCM, Dalinghaus M, de Coo R, van Bever Y, Winkelman BHJ, Mancini GMS. Acta2 Mutation with Childhood Cardiovascular, Autonomic and Brain Anomalies and Severe Outcome. American Journal of Medical Genetics, Part A. 2013;161(6):1376-80.

 

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Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destree A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Heron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Moller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sa J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. The Phenotype of Floating-Harbor Syndrome: Clinical Characterization of 52 Individuals with Mutations in Exon 34 of Srcap. Orphanet J Rare Dis. 2013;8(1):63.

 

Oegema R, Hulst JM, Theuns-Valks SDM, van Unen LMA, Schot R, Mancini GMS, Schipper MEI, de Wit MCY, Sibbles BJ, de Coo IFM, Nanninga V, Hofstra RMW, Halley DJJ, Brooks AS. Novel No-Stop Flna Mutation Causes Multi-Organ Involvement in Males. American Journal of Medical Genetics, Part A. 2013;161(9):2376-84.

 

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJG. Residual Α-L-Iduronidase Activity in Fibroblasts of Mild to Severe Mucopolysaccharidosis Type I Patients. Molecular Genetics and Metabolism. 2013;109(4):377-81.

 

Peters MJ, Broer L, Willemen HLDM, Eiriksdottir G, Hocking LJ, Holliday KL, Horan MA, Meulenbelt I, Neogi T, Popham M, Schmidt CO, Soni A, Valdes AM, Amin N, Dennison EM, Eijkelkamp N, Harris TB, Hart DJ, Hofman A, Huygen FJPM, Jameson KA, Jones GT, Launer LJ, Kerkhof HJM, De Kruijf M, McBeth J, Kloppenburg M, Ollier WE, Oostra B, Payton A, Rivadeneira F, Smith BH, Smith AV, Stolk L, Teumer A, Thomson W, Uitterlinden AG, Wang K, Van Wingerden SH, Arden NK, Cooper C, Felson D, Gudnason V, Macfarlane GJ, Pendleton N, Slagboom PE, Spector TD, Völzke H, Kavelaars A, Van Duijn CM, Williams FMK, Van Meurs JBJ. Genome-Wide Association Study Meta-Analysis of Chronic Widespread Pain: Evidence for Involvement of the 5p15.2 Region. Annals of the Rheumatic Diseases. 2013;72(3):427-36.

 

Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, Stroink H, Willemsen MA, Verheijen FW, Van De Spek P, Kremer A, Mancini GMS. Progressive Cerebellar Atrophy and Polyneuropathy: Expanding the Spectrum of Pnkp Mutations. Neurogenetics. 2013;14(1):43-51.

 

Prabowo AS, Anink JJ, Lammens M, Nellist M, Van Den Ouweland AMW, Adle-Biassette H, Sarnat HB, Flores-Sarnat L, Crino PB, Aronica E. Fetal Brain Lesions in Tuberous Sclerosis Complex: Torc1 Activation and Inflammation. Brain Pathology. 2013;23(1):45-59.

 

Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V. Mutation in the Synj1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism. Human Mutation. 2013;34(9):1208-15.

 

Ramakrishnaiah V, Thumann C, Fofana I, Habersetzer F, Pan Q, De Ruiter PE, Willemsen R, Demmers JAA, Raj VS, Jenster G, Kwekkeboom J, Tilanus HW, Haagmans BL, Baumert TF, Van Der Laan LJW. Exosome-Mediated Transmission of Hepatitis C Virus between Human Hepatoma Huh7.5 Cells. Proceedings of the National Academy of Sciences of the United States of America. 2013;110(32):13109-13.

 

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Renes JS, Willemsen RH, Wagner A, Finken MJJ, Hokken-Koelega ACS. Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis. Journal of Clinical Endocrinology and Metabolism. 2013;98(10):3932-8.

 

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Roemeling-van Rhijn M, de Klein A, Douben H, Pan Q, van der Laan LJW, Ijzermans JNM, Betjes MGH, Baan CC, Weimar W, Hoogduijn MJ. Culture Expansion Induces Non-Tumorigenic Aneuploidy in Adipose Tissue-Derived Mesenchymal Stromal Cells. Cytotherapy. 2013;15(11):1352-61.

 

Rutten JW, Boon EMJ, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SAJ. Hypomorphic Notch3 Alleles Do Not Cause Cadasil in Humans. Human Mutation. 2013;34(11):1486-9.

 

Santen GWE, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BWM, van Minderhout IJHM, Snowdowne R, van der Lans CAC, Boogaard M, Linssen MML, Vijfhuizen L, van der Wielen MJR, Vollebregt MJ, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BBA, Hennekam RCM, van Belzen MJ, Consortium C-S. Coffin-Siris Syndrome and the Baf Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation. 2013;34(11):1519-28.

 

Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. Genome-Wide Association Study of Tourette's Syndrome. Molecular Psychiatry. 2013;18(6):721-8.

 

Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney M, Hagerman P, Todd P, Charlet-Berguerand N. Sequestration of Drosha and Dgcr8 by Expanded Cgg Rna Repeats Alters Microrna Processing in Fragile X-Associated Tremor/Ataxia Syndrome. Cell Reports. 2013;3(3):869-80.

 

Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P.

Novel Foxf1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for Its Dna Binding Domain. Hum Mutat. 2013;34(6):801-11.

 

Seppälä EH, Reuser AJJ, Lohi H. A Nonsense Mutation in the Acid Α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds. PLoS ONE. 2013;8(2).

 

Sharifi Y, Tjon-Fo-Sang MJ, Cruysberg JRM, Maat-Kievit AJ. Ectopia Lentis Et Pupillae in Four Generations Caused by Novel Mutations in the Adamtsl4 Gene. British Journal of Ophthalmology. 2013;97(5):583-7.

 

Singleton AB, Farrer MJ, Bonifati V. The Genetics of Parkinson's Disease: Progress and Therapeutic Implications. Movement Disorders. 2013;28(1):14-23.

 

Sollie A, Sijmons RH, Lindhout D, van der Ploeg AT, Rubio Gozalbo ME, Smit GP, Verheijen F, Waterham HR, van Weely S, Wijburg FA, Wijburg R, Visser G. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications Icd-10 and Snomed-Ct, Which Can Be Barriers to Genotype-Phenotype Data Sharing. Hum Mutat. 2013;34(7):967-73.

 

Speksnijder L, Cohen-Overbeek TE, Knapen MFCM, Lunshof SM, Hoogeboom AJM, van den Ouwenland AM, de Coo IFM, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. A De Novo Gli3 Mutation in a Patient with Acrocallosal Syndrome. American Journal of Medical Genetics, Part A. 2013;161(6):1394-400.

 

Srebniak MI, Mout L, Van Opstal D, Galjaard RJH. 0.5 mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice. Human Mutation. 2013;34(9):1298-303.

 

Stam AH, Weller CM, Janssens ACJW, Aulchenko YS, Oostra BA, Frants RR, Van Den Maagdenberg AMJM, Ferrari MD, Van Duijn CM, Gisela MT. Migraine Is Not Associated with Enhanced Atherosclerosis. Cephalalgia. 2013;33(4):228-35.

 

Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffe LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CCW, van Duijn CM, Verhoeven VJM, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E, Viswanathan AC, Hayward C, Wright AF, Polašek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. Meta-Analysis of Genome-Wide Association Studies in Five Cohorts Reveals Common Variants in Rbfox1, a Regulator of Tissue-Specific Splicing, Associated with Refractive Error. Human Molecular Genetics. 2013;22(13):2754-64.

 

Stoof SCM, Sanders YV, Petrij F, Cnossen MH, de Maat MPM, Leebeek FWG, Kruip MJHA. Response to Desmopressin Is Strongly Dependent on F8 Gene Mutation Type in Mild and Moderate Haemophilia A. Thrombosis and Haemostasis. 2013;109(3):440-9.

 

Sun Y, Almomani R, Breedveld GJ, Santen GWE, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, Den Dunnen JT, Van de Warrenburg BP, Maat-Kievit AJA. Autosomal Recessive Spinocerebellar Ataxia 7 (Scar7) Is Caused by Variants in Tpp1, the Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (Cln2 Disease). Human Mutation. 2013;34(5):706-13.

 

Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang 3rd SF, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P. Small Noncoding Differentially Methylated Copy-Number Variants, Including Lncrna Genes, Cause a Lethal Lung Developmental Disorder. Genome research. 2013;23(1):23-33.

 

Tanyalçin I, Verhelst H, Halley DJJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC. Elaborating the Phenotypic Spectrum Associated with Mutations in Arfgef2: Case Study and Literature Review. European Journal of Paediatric Neurology. 2013;17(6):666-70.

 

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N. Weaver Syndrome and Ezh2 Mutations: Clarifying the Clinical Phenotype. American journal of medical genetics Part A. 2013;161a(12):2972-80.

 

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Calibration of Multiple in Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions. Human Mutation. 2013;34(1):255-65.

 

Thorgeirsson TE, Gudbjartsson DF, Sulem P, Besenbacher S, Styrkarsdottir U, Thorleifsson G, Walters GB, Furberg H, Sullivan PF, Marchini J, McCarthy MI, Steinthorsdottir V, Thorsteinsdottir U, Stefansson K, Surakka I, Vink JM, Amin N, Geller F, Rafnar T, Esko T, Walter S, Gieger C, Rawal R, Mangino M, Prokopenko I, Mägi R, Keskitalo K, Gudjonsdottir IH, Gretarsdottir S, Stefansson H, Aulchenko YS, Nelis M, Aben KK, Den Heijer M, Soranzo N, Valdes AM, Steves C, Uitterlinden AG, Hofman A, Tönjes A, Kovacs P, Hottenga JJ, Willemsen G, Vogelzangs N, Döring A, Dahmen N, Nitz B, Ripatti S, Perola M, Kettunen J, Hartikainen AL, Pouta A, Laitinen J, Isohanni M, Huei-Yi S, Allen M, Krestyaninova M, Hall AS, Thompson JR, Oskarsson H, Tyrfingsson T, Kiemeney LA, Järvelin MR, Salomaa V, Stumvoll M, Spector TD, Wichmann HE, Metspalu A, Samani NJ, Penninx BW, Oostra BA, Boomsma DI, Tiemeier H, Van Duijn CM, Kaprio J, Gulcher JR, Kim YJ, Dackor J, Boerwinkle E, Franceschini N, Ardissino D, Bernardinelli L, Mannucci PM, Mauri F, Merlini PA, Absher D, Assimes TL, Fortmann SP, Iribarren C, Knowles JW, Quertermous T, Ferrucci L, Tanaka T, Bis JC, Furberg CD, Haritunians T, McKnight B, Psaty BM, Taylor KD, Thacker EL, Almgren P, Groop L, Ladenvall C, Boehnke M, Jackson AU, Mohlke KL, Stringham HM, Tuomilehto J, Benjamin EJ, Hwang SJ, Levy D, Preis SR, Vasan RS, Duan J, Gejman PV, Levinson DF, Sanders AR, Shi J, Lips EH, McKay JD, Agudo A, Barzan L, Bencko V, Benhamou S, Castellsagué X, Canova C, Conway DI, Fabianova E, Foretova L, Janout V, Healy CM, Holcátová I, Kjaerheim K, Lagiou P, Lissowska J, Lowry R, Macfarlane TV, Mates D, Richiardi L, Rudnai P, Szeszenia-Dabrowska N, Zaridze D, Znaor A, Lathrop M, Brennan P, Bandinelli S, Frayling TM, Guralnik JM, Milaneschi Y, Perry JRB, Altshuler D, Elosua R, Kathiresan S, Lucas G, Melander O, O'Donnell CJ, Schwartz SM, Voight BF, Smit JH, De Geus EJC, Chanock SJ, Gu F, Hankinson SE, Hunter DJ, Chasman DI, Everett BM, Paré G, Ridker PM, Li MD, Maes HH, Audrain-McGovern J, Posthuma D, Thornton LM, Lerman C, Rose JE, Ioannidis JPA, Kraft P, Lin DY, Liu JS, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJF, Barroso I, Khaw KT, Grundy S, Barter P, Mahley R, Kesaniemi A, McPherson R, Vincent J, Strauss J, Kennedy J, Farmer A, McGuffin P, Day R, Matthews K, Bakke P, Gulsvik A, Lucae S, Ising M, Brueckl T, Horstmann S, Heinrich J, Lamina C, Polasek O, Zgaga L, Huffman J, Campbell S, Kooner J, Chambers JC, Burnett MS, Devaney J, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein S, Wilson JF, Wild SH, Campbell H, Vitart V, Reilly MP, Li M, Qu L, Wilensky R, Matthai W, Hakonarson HH, Rader DJ, Franke A, Wittig M, Schäfer A, Uda M, Terracciano A, Xiao X, Busonero F, Scheet P, Schlessinger D, Clair DS, Rujescu D, Abecasis GR, Grabe HJ, Teumer A, Völzke H, Petersmann A, John U, Rudan I, Hayward C, Wright AF, Kolcic I, Wright BJ, Balmforth AJ, Anderson CA, Ahmed T, Mathew CG, Parkes M, Satsangi J, Caulfield M, Munroe PB, Farrall M, Dominiczak A, Worthington J, Thomson W, Eyre S, Barton A, Mooser V, Francks C. A Common Biological Basis of Obesity and Nicotine Addiction. Translational Psychiatry. 2013;3:1-7.

 

Tomaszewska A, Podbiol-Palenta A, Boter M, Geisler G, Wawrzkiewicz-Witkowska A, Galjaard RJH, Zajaczek S, Srebniak MI. Deletion of 14.7mb 2q32.3q33.3 with a Marfanoid Phenotype and Hypothyroidism. American Journal of Medical Genetics, Part A. 2013;161(9):2347-51.

 

Twigg SRF, Babbs C, Van den elzen MEP, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular Interference in Craniofrontonasal Syndrome: Males Mosaic for Mutations in the X-Linked Efnb1 Gene Are More Severely Affected Than True Hemizygotes. Human Molecular Genetics. 2013;22(8):1654-62.

 

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MMC, Pouwels PJW, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. Phenotype and Genotype in 101 Males with X-Linked Creatine Transporter Deficiency. Journal of Medical Genetics. 2013;50(7):463-72.

 

van de Luijtgaarden KM, Bakker EJ, Rouwet EV, Hoeks SE, Valentijn TM, Stolker RJ, Majoor-Krakauer D, Verhagen HJM. Aneurysmal Disease Is Associated with Lower Carotid Intima-Media Thickness Than Occlusive Arterial Disease. Journal of Vascular Surgery. 2013;57(3):642-7.

 

van de Luijtgaarden KM, Bastos Gonçalves F, Majoor-Krakauer D, Verhagen HJM. Arterial Elongation and Tortuosity Leads to Detection of a De Novo Tgfbr2 Mutation in a Young Patient with Complex Aortic Pathology. European Heart Journal. 2013;34(15):1133.

 

van den Berg L, Henneman P, Willems Van Dijk K, Delemarre-Van De Waal HA, Oostra BA, Van Duijn CM, Janssens ACJW. Heritability of Dietary Food Intake Patterns. Acta Diabetologica. 2013;50(5):721-6.

 

van den Berg LEM, Drost MR, Schaart G, De Laat J, Van Doorn PA, Van Der Ploeg AT, Reuser AJJ. Muscle Fiber-Type Distribution, Fiber-Type-Specific Damage, and the Pompe Disease Phenotype. Journal of Inherited Metabolic Disease. 2013;36(5):787-94.

 

van den Bosch T, Koopmans AE, Vaarwater J, van den Berg M, de Klein A, Verdijk RM. Chemokine Receptor Ccr7 Expression Predicts Poor Outcome in Uveal Melanoma and Relates to Liver Metastasis Whereas Expression of Cxcr4 Is Not of Clinical Relevance. Investigative Ophthalmology and Visual Science. 2013;54(12):7354-61.

 

van der Linde D, Bekkers JA, Mattace-Raso FUS, Van De Laar IMBH, Moelker A, Van Den Bosch AE, Van Dalen BM, Timmermans J, Bertoli-Avella AM, Wessels MW, Bogers AJJC, Roos-Hesselink JW. Progression Rate and Early Surgical Experience in the New Aggressive Aneurysms-Osteoarthritis Syndrome. Annals of Thoracic Surgery. 2013;95(2):563-9.

 

van der Loos MJHM, Rietveld CA, Eklund N, Koellinger PD, Rivadeneira F, Abecasis GR, Ankra-Badu GA, Baumeister SE, Benjamin DJ, Biffar R, Blankenberg S, Boomsma DI, Cesarini D, Cucca F, de Geus EJC, Dedoussis G, Deloukas P, Dimitriou M, Eiriksdottir G, Eriksson J, Gieger C, Gudnason V, Höhne B, Holle R, Hottenga JJ, Isaacs A, Järvelin MR, Johannesson M, Kaakinen M, Kähönen M, Kanoni S, Laaksonen MA, Lahti J, Launer LJ, Lehtimäki T, Loitfelder M, Magnusson PKE, Naitza S, Oostra BA, Perola M, Petrovic K, Quaye L, Raitakari O, Ripatti S, Scheet P, Schlessinger D, Schmidt CO, Schmidt H, Schmidt R, Senft A, Smith AV, Spector TD, Surakka I, Svento R, Terracciano A, Tikkanen E, van Duijn CM, Viikari J, Völzke H, Wichmann HE, Wild PS, Willems SM, Willemsen G, van Rooij FJA, Groenen PJF, Uitterlinden AG, Hofman A, Thurik AR. The Molecular Genetic Architecture of Self-Employment. PLoS ONE. 2013;8(4).

 

van der Werf CS, Hsiao NH, Conroy S, Paredes J, Ribeiro AS, Sribudiani Y, Seruca R, Hofstra RMW, Westers H, van Ijzendoorn SCD. Clmp Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development.

PLoS ONE. 2013;8(2).

 

van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G. Pls3 Mutations in X-Linked Osteoporosis with Fractures. The New England journal of medicine. 2013;369(16):1529-36.

 

van Eeghen AM, Nellist M, van Eeghen EE, Thiele EA. Central Tsc2 Missense Mutations Are Associated with a Reduced Risk of Infantile Spasms. Epilepsy Research. 2013;103(1):83-7.

 

van Rij MC, de Die-Smulders CEM, Bijlsma EK, de Wert GMWR, Geraedts JP, Roos RAC, Tibben A. Evaluation of Exclusion Prenatal and Exclusion Preimplantation Genetic Diagnosis for Huntington's Disease in the Netherlands. Clinical Genetics. 2013;83(2):118-24.

 

Verdijk RM, Koopmans AE, Kilic E, Paridaens D, De Klein A. Histopathologic, Immunohistochemical, and Cytogenetic Analysis of Primary Clear Cell Melanoma of the Uvea. JAMA Ophthalmology. 2013;131(6):814-6.

 

Verhoeven WMA, Egger JIM, Goffin L, van Zutven LJCM, Mancini GMS. Behavioural Phenotype of a Patient with a De Novo 1.2mb Chromosome 4q25 Microdeletion. European Journal of Medical Genetics. 2013;56(6):331-5.

 

Vos J, Menko FH, Oosterwijk JC, Van Asperen CJ, Stiggelbout AM, Tibben A. Genetic Counseling Does Not Fulfill the Counselees' Need for Certainty in Hereditary Breast/Ovarian Cancer Families: An Explorative Assessment. Psycho-Oncology. 2013;22(5):1167-76.

 

Vos J, Van Asperen CJ, Oosterwijk JC, Menko FH, Collee MJ, Garcia EG, Tibben A. The Counselees' Self-Reported Request for Psychological Help in Genetic Counseling for Hereditary Breast/Ovarian Cancer: Not Only Psychopathology Matters. Psycho-Oncology. 2013;22(4):902-10.

 

Weiss MM, Van der Zwaag B, Jongbloed JDH, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CAL, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. Human Mutation. 2013;34(10):1313-21.

 

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. Phenotypical Variation within 22 Families with Pompe Disease. Orphanet Journal of Rare Diseases. 2013;8:182.

 

Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HWM, Tesi C, Stienen GJM, Heymans S, Michels M, Poggesi C, van der Velden J. Mutations in Myh7 Reduce the Force Generating Capacity of Sarcomeres in Human Familial Hypertrophic Cardiomyopathy. Cardiovasc Res. 2013;99(3):432-41.

 

Zhang L, Quadri M, Guedes LC, Coelho M, Valadas A, Mestre T, Lobo PP, Rosa MM, Simons E, Oostra BA, Ferreira JJ, Bonifati V. Comprehensive Lrrk2 and Gba Screening in Portuguese Patients with Parkinson's Disease: Identification of a New Family with the Lrrk2 P.Arg1441his Mutation and Novel Missense Variants. Parkinsonism and Related Disorders. 2013;19(10):897-900.

 

Zhao T, Severijnen LA, Van Der Weiden M, Zheng PP, Oostra BA, Hukema RK, Willemsen R, Kros JM, Bonifati V. Fbxo7 Immunoreactivity in Α-Synuclein-Containing Inclusions in Parkinson Disease and Multiple System Atrophy. Journal of Neuropathology and Experimental Neurology. 2013;72(6):482-8.

 

Zongaro S, Hukema R, D'Antoni S, Davidovic L, Barbry P, Catania MV, Willemsen R, Mari B, Bardoni B. The 3' Utr of Fmr1 Mrna Is a Target of Mir-101, Mir-129-5p and Mir-221: Implications for the Molecular Pathology of Fxtas at the Synapse. Human Molecular Genetics. 2013;22(10):1971-82.

 

Zwaan CM, Rizzari C, Mechinaud F, Lancaster DL, Lehrnbecher T, van der Velden VH, Beverloo BB, den Boer ML, Pieters R, Reinhardt D, Dworzak M, Rosenberg J, Manos G, Agrawal S, Strauss L, Baruchel A, Kearns PR. Dasatinib in Children and Adolescents with Relapsed or Refractory Leukemia: Results of the Ca180-018 Phase I Dose-Escalation Study of the Innovative Therapies for Children with Cancer Consortium. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2013;31(19):2460-8.

 

Letter to the editor

Codd V, Nelson CP, Albrecht E, Mangino M, Deelen J, Buxton JL, Hottenga JJ, Fischer K, Esko T, Surakka I, Broer L, Nyholt DR, Leach IM, Salo P, Hägg S, Matthews MK, Palmen J, Norata GD, O'Reilly PF, Saleheen D, Amin N, Balmforth AJ, Beekman M, De Boer RA, Böhringer S, Braund PS, Burton PR, Craen AJM, Denniff M, Dong Y, Douroudis K, Dubinina E, Eriksson JG, Garlaschelli K, Guo D, Hartikainen AL, Henders AK, Houwing-Duistermaat JJ, Kananen L, Karssen LC, Kettunen J, Klopp N, Lagou V, Van Leeuwen EM, Madden PA, Mägi R, Magnusson PKE, Männistö S, McCarthy MI, Medland SE, Mihailov E, Montgomery GW, Oostra BA, Palotie A, Peters A, Pollard H, Pouta A, Prokopenko I, Ripatti S, Salomaa V, Suchiman HED, Valdes AM, Verweij N, Viñuela A, Wang X, Wichmann HE, Widen E, Willemsen G, Wright MJ, Xia K, Xiao X, Van Veldhuisen DJ, Catapano AL, Tobin MD, Hall AS, Blakemore AIF, Van Gilst WH, Zhu H, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Talmud PJ, Pedersen NL, Perola M, Ouwehand W, Kaprio J, Martin NG, Van Duijn CM, Hovatta I, Gieger C, Metspalu A, Boomsma DI, Jarvelin MR, Slagboom PE, Thompson JR, Spector TD, Van Der Harst P, Samani NJ. Identification of Seven Loci Affecting Mean Telomere Length and Their Association with Disease. Nature Genetics. 2013;45(4):422-7.

 

Research letter

de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D. Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17. American journal of medical genetics Part A. 2013;161a(5):1196-9.

 

Letter

Delnooz CCS, Wevers RA, Quadri M, Clayton PT, Mills PB, Tuschl K, Steenbergen EJ, Bonifati V, Van de Warrenburg BPC. Phenotypic Variability in a Dystonia Family with Mutations in the Manganese Transporter Gene. Movement Disorders. 2013;28(5):685-6.

 

Letter

Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L, Buring JE, Eccles D, Miron P, Fasching PA, Brauch H, Chang-Claude J, Carpenter J, Godwin AK, Nevanlinna H, Giles GG, Cox A, Hopper JL, Bolla MK, Wang Q, Dennis J, Dicks E, Howat WJ, Schoof N, Bojesen SE, Lambrechts D, Broeks A, Andrulis IL, Guénel P, Burwinkel B, Sawyer EJ, Hollestelle A, Fletcher O, Winqvist R, Brenner H, Mannermaa A, Hamann U, Meindl A, Lindblom A, Zheng W, Devillee P, Goldberg MS, Lubinski J, Kristensen V, Swerdlow A, Anton-Culver H, Dörk T, Muir K, Matsuo K, Wu AH, Radice P, Teo SH, Shu XO, Blot W, Kang D, Hartman M, Sangrajrang S, Shen CY, Southey MC, Park DJ, Hammet F, Stone J, Veer LJV, Rutgers EJ, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Peto J, Schrauder MG, Ekici AB, Beckmann MW, Dos Santos Silva I, Johnson N, Warren H, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Truong T, Laurent-Puig P, Kerbrat P, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JIA, Menéndez P, Müller H, Arndt V, Stegmaier C, Lichtner P, Lochmann M, Justenhoven C, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Greco D, Heikkinen T, Ito H, Iwata H, Yatabe Y, Antonenkova NN, Margolin S, Kataja V, Kosma VM, Hartikainen JM, Balleine R, Tseng CC, Berg DVD, Stram DO, Neven P, Dieudonné AS, Leunen K, Rudolph A, Nickels S, Flesch-Janys D, Peterlongo P, Peissel B, Bernard L, Olson JE, Wang X, Stevens K, Severi G, Baglietto L, McLean C, Coetzee GA, Feng Y, Henderson BE, Schumacher F, Bogdanova NV, Labrèche F, Dumont M, Yip CH, Taib NAM, Cheng CY, Shrubsole M, Long J, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Knight JA, Glendon G, Mulligan AM, Tollenaar RAEM, Seynaeve CM, Kriege M, Hooning MJ, Van Den Ouweland AMW, Van Deurzen CHM, Lu W, Gao YT, Cai H, Balasubramanian SP, Cross SS, Reed MWR, Signorello L, Cai Q, Shah M, Miao H, Chan CW, Chia KS, Jakubowska A, Jaworska K, Durda K, Hsiung CN, Wu PE, Yu JC, Ashworth A, Jones M, Tessier DC, González-Neira A, Pita G, Alonso MR, Vincent D, Bacot F, Ambrosone CB, Bandera EV, John EM, Chen GK, Hu JJ, Rodriguez-Gil JL, Bernstein L, Press MF, Ziegler RG, Millikan RM, Deming-Halverson SL, Nyante S, Ingles SA, Waisfisz Q, Tsimiklis H, Makalic E, Schmidt D, Bui M, Gibson L, Müller-Myhsok B, Schmutzler RK, Hein R, Dahmen N, Beckmann L, Aaltonen K, Czene K, Irwanto A, Liu J, Turnbull C, Rahman N, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Olswold C, Slager S, Pilarski R, Ademuyiwa F, Konstantopoulou I, Martin NG, Montgomery GW, Slamon DJ, Rauh C, Lux MP, Jud SM, Bruning T, Weaver J, Sharma P, Pathak H, Tapper W, Gerty S, Durcan L, Trichopoulos D, Tumino R, Peeters PH, Kaaks R, Campa D, Canzian F, Weiderpass E, Johansson M, Khaw KT, Travis R, Clavel-Chapelon F, Kolonel LN, Chen C, Beck A, Hankinson SE, Berg CD, Hoover RN, Lissowska J, Figueroa JD, Chasman DI, Gaudet MM, Diver WR, Willett WC, Hunter DJ, Simard J, Benitez J, Dunning AM, Sherman ME, Chenevix-Trench G, Chanock SJ, Hall P, Pharoah PDP, Vachon C, Easton DF, Haiman CA, Kraft P.

Genome-Wide Association Studies Identify Four Er Negative-Specific Breast Cancer Risk Loci. Nature Genetics. 2013;45(4):392-8.

 

Letter to the editor

Geelen J, Pfundt R, Meijer J, Verheijen FW, van Kuilenburg AB, Warris A, Marcelis C. Severe Phenotype of Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency in a Patient with a Homozygous Mutation Due to Uniparental Disomy. The Journal of allergy and clinical immunology. 2013;132(1):222-3.

 

Letter to the editor

Güngör D, Reuser AJ. How to Describe the Clinical Spectrum in Pompe Disease? American Journal of Medical Genetics, Part A. 2013;161(2):399-400.

 

Letter

Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, Bustamante M, Feenstra B, Berry DJ, Thiering E, Pfab T, Barton SJ, Shields BM, Kerkhof M, Van Leeuwen EM, Fulford AJ, Kutalik Z, Zhao JH, Den Hoed M, Mahajan A, Lindi V, Goh LK, Hottenga JJ, Wu Y, Raitakari OT, Harder MN, Meirhaeghe A, Ntalla I, Salem RM, Jameson KA, Zhou K, Monies DM, Lagou V, Kirin M, Heikkinen J, Adair LS, Alkuraya FS, Al-Odaib A, Amouyel P, Andersson EA, Bennett AJ, Blakemore AIF, Buxton JL, Dallongeville J, Das S, De Geus EJC, Estivill X, Flexeder C, Froguel P, Geller F, Godfrey KM, Gottrand F, Groves CJ, Hansen T, Hirschhorn JN, Hofman A, Hollegaard MV, Hougaard DM, Hyppönen E, Inskip HM, Isaacs A, Jørgensen T, Kanaka-Gantenbein C, Kemp JP, Kiess W, Kilpeläinen TO, Klopp N, Knight BA, Kuzawa CW, McMahon G, Newnham JP, Niinikoski H, Oostra BA, Pedersen L, Postma DS, Ring SM, Rivadeneira F, Robertson NR, Sebert S, Simell O, Slowinski T, Tiesler CMT, Tönjes A, Vaag A, Viikari JS, Vink JM, Vissing NH, Wareham NJ, Willemsen G, Witte DR, Zhang H, Zhao J, Wilson JF, Stumvoll M, Prentice AM, Meyer BF, Pearson ER, Boreham CAG, Cooper C, Gillman MW, Dedoussis GV, Moreno LA, Pedersen O, Saarinen M, Mohlke KL, Boomsma DI, Saw SM, Lakka TA, Körner A, Loos RJF, Ong KK, Vollenweider P, Van Duijn CM, Koppelman GH, Hattersley AT, Holloway JW, Hocher B, Heinrich J, Power C, Melbye M, Guxens M, Pennell CE, Bønnelykke K, Bisgaard H, Eriksson JG, Widén E, Hakonarson H, Uitterlinden AG, Pouta A, Lawlor DA, Smith GD, Frayling TM, McCarthy MI, Grant SFA, Jaddoe VWV, Jarvelin MR, Timpson NJ, Prokopenko I, Freathy RM. New Loci Associated with Birth Weight Identify Genetic Links between Intrauterine Growth and Adult Height and Metabolism. Nature Genetics. 2013;45(1):76-82.

 

Research letter

Kowalczyk M, Tomaszewska A, Podbiol-Palenta A, Remiszewska B, Galjaard RJH, Zajaczek S, Srebniak MI. A Familial Deletion of 16q21 Characterized by an Snp Array and Associated with a Normal Phenotype. American Journal of Medical Genetics, Part A. 2013;161(6):1501-4.

 

Letter

Pijnappel WWMP, Esch D, Baltissen MPA, Wu G, Mischerikow N, Bergsma AJ, Van Der Wal E, Han DW, Bruch HV, Moritz S, Lijnzaad P, Altelaar AFM, Sameith K, Zaehres H, Heck AJR, Holstege FCP, Schöler HR, Timmers HTM. A Central Role for Tfiid in the Pluripotent Transcription Circuitry. Nature. 2013;495(7442):516-9.

 

Letter to the editor

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RMW, de Wind N. Response To: Design of a Core Classification Process for Dna Mismatch Repair Variations of a Priori Unknown Functional Significance. Human Mutation. 2013;34(6):923-4.

 

Author’s reply (Erratum)

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JAC, Hoogeboom AJM, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, Van Der Spek PJ, Mathijssen IMJ, Maxson RE, Twigg SRF, Wilkie AOM. Erratum: Mutations in Tcf12, Encoding a Basic Helix-Loop-Helix Partner of Twist1, Are a Frequent Cause of Coronal Craniosynostosis (Nature Genetics (2013) 45 (304-307)).

Nature Genetics. 2013;45(10):1261.

 

Letter

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JAC, Hoogeboom AJM, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, Van Der Spek PJ, Mathijssen IMJ, Maxson RE, Twigg SRF, Wilkie AOM. Mutations in Tcf12, Encoding a Basic Helix-Loop-Helix Partner of Twist1, Are a Frequent Cause of Coronal Craniosynostosis. Nature Genetics. 2013;45(3):304-7.

 

Letter

Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo Jr RP, Lass JH, Chew E, Iyengar SK, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, Van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ. Genome-Wide Meta-Analyses of Multiancestry Cohorts Identify Multiple New Susceptibility Loci for Refractive Error and Myopia. Nature Genetics. 2013;45(3):314-8.

 

Further scientific publications:

Van Der Linde D, Van De Laar IMBH, Moelker A, Wessels MW, Bertoli-Avella AM, Roos-Hesselink JW. Patiënten met aneurysmata en osteoartritis- geen syndroom van Marfan, maar wat dan? Nederlands Tijdschrift voor de Geneeskunde 2013;157(21).

 

Book contribution:

J. van Beek, A.E. Koopmans, A. de Klein, D. Paridaens, R. Verdijk, N. Naus, E. Killic. Diagnosis, Histopathologic and Genetic classification of Uveal Melanoma In: Guy Huynh Thien Duc (Ed) Melanoma- From Early Detection to Treatment 2013;137-173 InTech 978-953-51-0961-7