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Publicaties 2016

(International) scientific publications:

Aerts MB, Weterman MAJ, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Bas F, Bonifati V, van de Warrenburg BP.
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease
Annals of Clincal and Translational Neurology, 2016; 3(2): 146-149

Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy (2016)
J Am Coll Cardiol. ;67(5):515-25

Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM.
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder(2016)
Eur J Hum Genet. 24:1627-1629.

Baardman ME, Zwier MV, Wisse LJ, Gittenberger-de Groot AC, Kerstjens-Frederikse WS, Hofstra RM, Jurdzinski A, Hierck BP, Jongbloed MR, Berger RM, Plösch T, DeRuiter MC.
Common arterial trunk and in Lrp2 knock out mice indicate a crucial role of LRP2 in cardiac development (2016)
Dis Model Mech. 9:413-425.

Bagci S, Brosens E, Tibboel D, Klein A de, IJsselstijn H, Wijers CHW, Roeleveld N, Blaauw I de, Broens PM, Rooij IALM van, Hölscher A, Boemers TM, Pauly M, Münsterer OJ, Schmiedeke E, Schäfer M, Ure BE, Lacher M, Choinotzki V, Schumacher J, Zwink N, Jenetzky E, Katzer D, Arand J, Bartmann P, Reutter HM.
More than fetal urine: enetral uptake of amniotic fluid as a major predictor for fetal growth during late gestation
ONLINE

Beelen, E. van, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP.
Audiometric Chracteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment
Ear Hear, 2016, Jan-Febr;37(1): 103-111.

Bergsma A, Groen SLM in 't, Verheijen FW, Ploeg AT van der, Pijnappel WWM
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline fort he Development of Antisense Oligonucleotides
Molecular Therapy-Nucleic Acids (2016) 5, e3
Bouwkamp CG, Kievit JA, Olgiati S, Breedveld GJ, Coesmans M, Bonifati V, Kushner S.
A Balanced Translocation Disrupting BCL2L10 and PNLDC1 Segregates With Affective Psychosis
Am J Med Genet B Neuropsychiatr Genet. 2016 Jun 3. [Epub ahead of print]

Broek JAC, Lin Z., Gruiter HM de, Spijker H van 't,  Haasdijk ED, Cox D, Ozcan S, Cappellen GWA van, Houtsmuller AB, Willemsen R, Zeeuw CI de, Bahn S.
Synaptic vesicle dynamic changes in a model of fragile X.
Molecular Autism (2016) 7:17

Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A.
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
 Eur J Hum Genet. 2016 Dec;24(12):1715-1723

Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM.
Genetics of enteric neuropathies
Dev Biol. 2016;417:198-208

Buijsen R.A., J.A. Visser, P. Kramer, E.A. Severijnen, M. Gearing, N. Charlet-Berguerand,  S.L. Sherman, R.F. Berman, R. Willemsen, R.K. Hukema
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Human Reproduction 31, 158-168 (2016).

Burns AJ, Goldstein AM, Newgreen DF, Stamp L, Schafer KH, Metzger M, Hotta R, Young HM, Andrews PW, Thapar N, Belkind-Gerson J, Bondurand N, Bornstein JC, Chan WY, Cheah K, Gershon MD, Heuckeroth RO, Hofstra RMW, Just L, Kapur RP, King SK, McCann CJ, Nagy N, Ngan E, Obermayr F, Pachnis V, Pasricha PJ, Sham MH, Tam P, Berghe PV.
White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies. (2016)
Dev Biol. 417:229-51.

Burns AJ, Hofstra RMW
The enteric nervous system: From embryology to therapy
Developmental Biology 417 (016): 127-128

Cooper JE, McCann CJ, Natarajan D, Choudhury S, Boesmans W, Delalande J-M, Vanden Berghe P, Burns AJ, Thapar N.
In Vivo Transplantation of Enteric Neural Crest Cells into Mouse Gut; Engraftment, Functional Integration and Long-Term Safety
PLOS One, January 29 2016:1-17

Dopper EG, Chalos V, Ghariq E, den Heijer T, Hafkemeijer A, Jiskoot LC, de Koning I, Seelaar H, van Minkelen R, van Osch MJ, Rombouts SA, van Swieten JC.
Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.
Neuroimage Clin. 2016 Aug 3;12:460-5.

Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk  T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D,  Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles
GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H,  Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S, Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S, Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ejlertsen B, Hansen TV, Osorio A, Benitez J, Rando R, Weitzel JN, Bonanni B, Peissel B, Manoukian S, Papi L, Ottini L, Konstantopoulou I, Apostolou P, Garber J, Rashid
MU, Frost D; EMBRACE., Izatt L, Ellis S, Godwin AK, Arnold N, Niederacher D, Rhiem K, Bogdanova-Markov N, Sagne C, Stoppa-Lyonnet D, Damiola F; GEMO Study Collaborators., Sinilnikova OM, Mazoyer S, Isaacs C, Claes KB, De Leeneer K, de la Hoya M, Caldes T, Nevanlinna H, Khan S, Mensenkamp AR; HEBON., Hooning MJ, Rookus MA, Kwong A, Olah E, Diez O, Brunet J, Pujana MA, Gronwald J, Huzarski T,  Barkardottir RB, Laframboise R, Soucy P, Montagna M, Agata S, Teixeira MR; kConFab Investigators., Park SK, Lindor N, Couch FJ, Tischkowitz M, Foretova L, Vijai J, Offit K, Singer CF, Rappaport C, Phelan CM, Greene MH, Mai PL, Rennert G, Imyanitov EN, Hulick PJ, Phillips KA, Piedmonte M, Mulligan AM, Glendon G, Bojesen A, Thomassen M, Caligo MA, Yoon SY, Friedman E, Laitman Y, Borg A, von Wachenfeldt A, Ehrencrona H, Rantala J, Olopade OI, Ganz PA, Nussbaum RL, Gayther SA, Nathanson KL, Domchek SM, Arun BK, Mitchell G, Karlan BY, Lester J, Maskarinec G, Woolcott C, Scott C, Stone J, Apicella C, Tamimi R, Luben R, Khaw KT, Helland Å, Haakensen V, Dowsett M, Pharoah PD, Simard J, Hall P, García-Closas M, Vachon C, Chenevix-Trench G, Antoniou AC, Easton DF, Edwards SL.
Breast cancer risk variants at 6q25 display different phenotype associations and  regulate ESR1, RMND1 and CCDC170.
Nat Genet. 2016 Apr;48(4):374-86.

Dvorkina M, Nieddu V, Chakeam S, Pezzolo A, Cantilena S, Leite AP, Chayka O, Regad T, Pistorio A, Sementa AR, Virasami A, Barton J, Montano X, Lechertier T, Brindle N, Morgenstern D, Lebras M, Burns AJ, Saunders NJ, Hodivala-Dilke K, Bagella L, De The H, Anderson J, Sebire N, Pistoia V, Sala A, Salomoni P.
A Promyelocytic Leukemia Protein-Thrombospondin-2 Axis and the Risk of Relampse in Neuroblastoma
Clinical Cancer Research; 22(13) July 1, 2016

Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group., Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P,
Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators., Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators., Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators., Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs  K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C,
Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV,  Chenevix-Trench G.
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
J Med Genet. 2016 May;53(5):298-309.

Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N.
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
BMC Genet. 2016 Feb 9;17:36.

Gai Z, Chu W, Deng W, Li W, Li H, He A, Nellist M, Wu G (2016)
Structure of the TBC1D7-TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region.
J Mol Cell Biol. pii: mjw001. [Epub ahead of print]

García-Aguilar A, Guillén C, Nellist M, Bartolomé A, Benito M (2016)
TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy.
Biochim Biophys Acta. 1863(11):2658-2667.
 
Geurts-Giele WRR, Verschuer VMT van, Deurzen CHM van, Diest PJ van, Pedrosa RMSM, Collée JM, Koppert LB, Seynaeve C and Dinjens WNM.
Molecular determination of the clonal realationships between multiple tumors in BRCA 1/2 -associated breast and/of ovarian cancer patients is clinically relevant
Mod Pathol. 2017 Jan;30(1):15-25

Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of
TCF12-Related Craniosynostosis.
Hum Mutat. 2016 Aug;37(8):732-6.

Goverde A, Spaanden MCW, Doorn HC van, Dubbink HJ, Ouweland AMW van den, Tops CM, Kooi SG, Waarde J de, Hoedemaeker RF, Bruno MJ, Hofstra RMW, Bekker-Gron EW de, Dinjens WNM, Steyerberg EW, Wagner A, on behalf of the LIMO Study Group.
Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age.
YGYNO-976482, 2016
ONLINE

Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. 
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.(2016)
Hum Mol Genet. 25:571-583

Harnisch E, Buddingh EP, Thijssen PE, Brooks AS, Driessen GJ, Kersseboom R, Lankester AC.
Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis.
Transplantation. 2016::e35-6.

Heanue ta, Shepherd IT, Burns AJ.
Enteric nervous system development in avian and zebrafish models
Developmental Biology, 417 (2016: 129-138

Hollestelle A, Baan FH van der, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Ontoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Australian Ovarian Cancer Study Group, Baglietto L, Balleine R, Bandera EV,Barrowdale D, Beat YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Breast Cancer Family Register, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Bruning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook JS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola  F, Dansonka-Mieszkowska A, Darabi H, Hoya M de la, DeFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dos Santos Silva I, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Faschin PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Friel G, Frost D, Garber J, Garcia-Closas M, Gayther SA, GEMO Study Collaborators GENTICA Network, Gentry-Maharaj A, Gerder A-M, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, Hildebrandt MA, Hogdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EV, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabish M, Karlan BY, Kataja V, Kauff N, KConFab Investigators, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Baut JP, Konstantopoulou I, Kosma V-M, Krakstad C e.a.
No clinical utility of KRAS  variant rs61764370 for ovarian or breast cancer
Gynecologic Oncology 141 (2016) 386-401

Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet. 2016 Mar;61(3):229-33.

Hondel D van den, Wijers CHW, Bever Y van, Klein A de, Marcelis CLM, Blaauw I de, Sloots CEJ, IJsselstijn H.
Patients with anorectal malformation and upper lim anomalies: genetic evaluation is warranted
Eur J Pediatr (2016) 175: 489-497

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. (2016)
Proc Natl Acad Sci U S A. 113:4128-133.

Hukema R, Riemslagh FW, Melhem S, Van der Linde HC, Severijnen L-AWFM, Edbauer D, Maas A, Charlet-Berguuerand N, Willemsen R, van Swieten JC.
Retraction Note to: A new inducible transgenix mouse model for C9orf72-associated GGGGCC rpeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD
Acta Neuropathologica Comm. (2016) 4:129

Hulsebos TJ, Kenter S, Baas F, Nannenberg EA, Bleeker FE, van Minkelen R, van  den Ouweland AM, Wesseling P, Flucke U.
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in
respectively schwannoma and renal tumor cells.
Genes Chromosomes Cancer. 2016 Apr;55(4):350-4

Jiskoot LC, Dopper EG, Heijer Td, Timman R, van Minkelen R, van Swieten JC, Papma JM.
Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.
Neurology. 2016 Jul 26;87(4):384-91.

Joosten M, Diderich KE, Van Opstal D, Govaerts LC, Riedijk SR, Prinsen AK, De Vries FA, Go AT, Galjaard RJ, Srebniak MI.
Clinical experience of unexpected findings in prenatal array testing.
Biomark Med. 2016 Aug;10(8):831-40.

Juniarto Z, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a Disorder of Sex Development from Indonesia. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57.

Kalscheuer VM, James VM, Himelright ML, Long P, Oegema R, Jensen C, Bienek M, Hu H, Haas SA, Topf M, Hoogeboom AJM, Harvey K, Walikonis R, Harvey RJ.
Novel Missense Mutation A789V in IQSEC2 Underlies X-linked Intellectual Disabality in the MRX78 Family
Frontiers in Molecular Neuroscience: 11 January 2016, Vol. 8, Article 85

Keller C, Joosten M, Middeldorp AM, Knapen M.
Fetal anemia caused by the Guadalajara variant of G6PD deficiency.
Ultrasound Obstet Gynecol. 2016 Sep;48 Suppl 1:362.

Kerstjens-Frederikse WS, van de Laar IM, Vos YJ, Verhagen JM, Berger RM, Lichtenbelt KD, Klein Wassink-Ruiter JS, van der Zwaag PA, du Marchie Sarvaas GJ, Bergman KA, Bilardo CM, Roos-Hesselink JW, Janssen JH, Frohn-Mulder IM, van Spaendonck-Zwarts KY, van Melle JP, Hofstra RM, Wessels MW.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. (2016)
Genet Med. 18:914-923.

Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics., Yntema HG, Lindstrom K, de Vries BB, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study., Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann AP, Stevens SJ, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LE, Ahn EY.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet. 2016 Sep 1;99(3):711-9.

Kinnersley B, Chubb D, Dobbins SE, Frampton M, Buch S, Timofeeva MN, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, van Wezel T, Timothy Bishop D, Tomlinson I, Dunlop MG, Houlston RS.
Correspondence: SEMA4A variation and risk of colorectal cancer. (2016)
Nat Commun. 7:10611.

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study., Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Eur J Hum Genet. 2016;24):652-9.

Korpershoek E, Koffy D, Eussen BH, Oudijk L, Papathomas TG, Nederveen FH van, Belt EJT, Franssen GJH, Restuccia DFJ, Krol NMG, Luijt RB van der, Feelders RA, Oldenburg RA, IJcken WFJ van, Klein A de, Herder WW de, Krijger RR de, Dinjens WNM.
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis.
J Clin Endocriniol Metab, February 2016, 101(20: 453-460

Kuipers J, Kalicharan RD, Wolters AHG, van Ham TJ, Giepmans BNG
Large-scale Scanning Transmission Electron Microscopy (Nanotomy) of Healthy and Injured Zebrafish Brain
Journal of Visualized Experiments; May 2016/111/e53635; 1-7

Lawrenson K, K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley  J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H,  Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R,
Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators., Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont  M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE., Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)., Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators.; Australian Ovarian Cancer Study Group., Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK,
Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic  T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK,
Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng  Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF,
Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA.    
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Nat Commun. 2016 Sep 7;7:12675. 

Leenen CH, Goverde A, de Bekker-Grob EW, Wagner A, van Lier MG, Spaander MC, Bruno MJ, Tops CM, van den Ouweland AM, Dubbink HJ, Kuipers EJ, Dinjens WN, van Leerdam ME, Steyerberg EW.
Cost-effectiveness of routine screening for Lynchsyndrome in colorectal cancer patients up to 70 years of age.
Genet Med. 2016 Oct;18(10):966-73.
 
Liu J, Loncar I, Collée JM, Bolla MK, Dennis J, Michailidou K, Wang Q, Andrulis ILm, Barile M, Beckmann MW, Behrens S, Benitez J, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Brauch H, Brennan P, Brenner H,  Broeks A, Burwinkel B, Chang-Calude J, Chen S-T, Chenevix-Trench G, Cheng CY, Choi JY, Couch FJ, Cox A, Cross SS, Cuk K, Czene K, Dörk T, dos-Santos-Silva, I., Faschin PA, Figueroa J, Flyger H, Garcia-Closas M, Giles GG, Glendon G, Goldberg MS, Gonzalez-Neira A, Guénel P, Haiman U, Hart SN, Hartmann M, Hatse S, Hopper JL, Ito H, Jakubowska A, Kabisch M, Kang D, Kosma W-M, Kristensen VN, Marchand LL, Lee E, L J, Lophatananon A, Lubinski J, Mannermaa A, Matsuo K, Milne RL, NBCS Collaborators Neuhausen SL, Nevanlinna H, Orr N, PerezJIA, Peto J, Putti TC, Pylkas K, Radice P, Sangrajrang S, Sawyer EJ, Schmidt MK, Schneeweiss A, Shen C-Y, Shrubsole MJ, Shu X-O, Simard J, Southey MC, Swerdlow A, Teo SH, Tessier DC, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tseng C-C, Vachon C, Winqvist R, Wu AH, Yannoukakos D, Zheng W, Hall P, Dunning AM, Easton DF, Hooning MJ, Ouwelant AMW van den, Martens JWM, Hollestelle A.
Rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk (2016)
Scientific Reports 6:36874

Liu J, Prager-vander Smissen WJC, Schmidt MK, Collée JM, Cornelissen S, Lamping R, Nieuwlaat A, Foekens JA, Hooning MJ, Verhoef S, Ouweland AMW van den, Hogervorst FBL, Martens JWM, Hollestelle A.
Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk
Sci Rep. 2016 Jul 18;6:30026

Mancini GMS, Schot R, Wit MCY de, Coo RF de, Oostenbrink R, Bindels-de Heus K, Berger LPV, Lequin MH, Vries FAT de, Wilke M, Slegtenhorst MA van.
CSTB Null Mutation addociated with Microcephaly, early developmental delay, and severe dyskinesia (2016)
Neurology 86, March 1 2016877-878

Mateo F, Arenas EJ, Aguilar H, Serra-Musach J, Ruiz de Garibay G, Boni J, Maicas M, Du Iorio S, Herranz-Ors C, Islam A, Prado X, Llorente A, Petit A, Vidal A, Catala I, Soler T, Venturas G, Rojo-Sebastian A, Serra H, Cuadras D, Blanco I, Lozano J, Canals F, Sieuwerts AM, de Weerd V, Look MP, Puertas S, Garcia N, Perkins AS, Bonifaci N, Skowron M, Gomez-Baldo L, Hernandez V, Martinez-Aranda A, Martinez-Iniesta M, Serrat X, Ceron J, Brunet J, Barretina MP, Gil M, Falo C, Fernandez A, Morilla I, Pernas S, Pia MJ, Andreu X, Segui Ma, Ballester R, Castella R, Nellist M, Morales S, Valls J, Velasco A, Matias-Guiu X, Figueras A, Sanchez-Mut JV, Sanchez-Cespedes M, Cordero A, Gomez-Miragaya J,Palomero L, Gomez A, Gajewski TF, Cohen EEw, Jesiotr M, Bodnar L, Quintela-Fandino M, Lopez-BigasN, Valdes-Mas R, Puente XS, Vinals F, Casanovas O, Graupera M, Hernandez-Losa J, Ramon y Cajal S, Garcia-Alonso L, Saez-Rodriguez J, Esteller M, Sierra A, Martin-Martin N, Matheu A, Carracedo A, Gonzalez-Suarez E,Nanjundan M, Cortes J, Lazaro C, Odero MD, Martens JWM, Moreno-Bueno G, Barcellos-Hoff MH, Villanueva A, Gomis RR, Pujana MA.
Stemm cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition
Oncogene advance ONLINE publication, December 2016

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel J-L, Piton A.
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
The American Journal of Human Genetics, 100, 1-12, 2016

Meeter LH, Patzke H, Loewen G, Dopper EG, Pijnenburg YA, van Minkelen R, van Swieten JC.
Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.
Dement Geriatr Cogn Dis Extra. 2016 Jul 22;6(2):330-340.

Meeter LH, Dopper EG, Jiskoot LC, Sanchez-Valle R, Graff C, Benussi L, Ghidoni R, Pijnenburg YA, Borroni B, Galimberti D, Laforce RJ, Masellis M, Vandenberghe, R, Ber IL, Otto M, van Minkelen R, Papma JM, Rombouts SA, Balasa M, Öijerstedt L,
Jelic V, Dick KM, Cash DM, Harding SR, Jorge Cardoso M, Ourselin S, Rossor MN, Padovani A, Scarpini E, Fenoglio C, Tartaglia MC, Lamari F, Barro C, Kuhle J, Rohrer JD, Teunissen CE, van Swieten JC.
Neurofilament light chain: a biomarker for genetic frontotemporal dementia.
Ann Clin Transl Neurol. 2016 Jul 1;3(8):623-36.

Meijer OL, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJ, Wagemans T, Wijburg FA, van Vlies N.
Residual N-acetyl-a-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
J Inherit Metab Dis. 2016 May;39(3):437-45.

Meuwissen MEC, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SC, Li Z, Unen L van, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RWW, IJcken WFJ van, Martin-Fernandez M, Coo I de, Dudink J, Vries FAT de, Bertolli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bugunovic D, Mancini GMS.
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
J Exp Med. 2016 Jun 27;213(7):1163-74.

Moort I van, Joosten M, de Maat MP, Leebeek FW, Cnossen MH.
Pitfalls in the diagnosis of hemophilia severity: What to do?
Pediatr Blood Cancer. 2016 Oct 13.

Mühlebner A, van Scheppingen J, Hulshof HM, Scholl T, Iyer AM, Anink JJ, van den Ouweland AM, Nellist M, Jansen FE, Spliet WG, Krsek P, Benova B, Zamecnik J, Crino PB, Prayer D, Czech T, Wöhrer A, Rahimi J, Höftberger R, Hainfellner JA, Feucht M, Aronica E (2016)
Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex (2016).
PLoS One. 11(6):e0157396.

Olgiati S, Quadri M, Bonifati V.
Genetics of Movement Disorders in the Next-Generation Sequencing Era
Mov Disord. 2016 Apr;31(4):458-70.

Olgiati S, Quadri M, Fang M, Rood JPMA, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J, The International Parkinsonism Genetics Network, Verheijen FW, Boon AJW, Kievit AJA, Bannach Jardim L, Mandemakers W, Reis Barbosa E, Rieder CRM, Leenders KL, Wang J, Bonifati V.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Ann Neurol. 2016 Feb;79(2):244-56.

Olgiati S, Quadri M, Mandemakers W, Bonifati V.
Reply to Letter.
Ann Neurol. 2016 Feb;79(2):337-8.

Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, Hout, MCGN van den, Schoonderwoerd K, Verheijen FW, Ijcken WFJ van, Chien HF, Reis Barbosa E, Chang H-C, Lai S-C, Yeh T-H, Lu C-S, Wu-Chou Y-H, Kievit JA, Han V, Gdovinova Z, Jech R, Hofstra RMW, Ruijter JG, Mandemakers W, Bonifati V.
Paroxysmal Exercise-Induces Dystonia Within the Phenotypic Spectrum of ECHS1  Deficiency.
Mov Disord. 2016 Jul;31(7):1041-8.

Opstal D van, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ.
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
PLoS One. 2016 Jan 15;11(1)

Opstal D van, Srebniak M.
Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chrmosome aberration
Expert Rev Mol Diagn. 2016;16(5):513-20.

Overwater IE, Verhaar BJ, Lingsma HF, Bindels-de Heus GC, van den Ouweland AM, Nellist M, Ten Hoopen LW, Elgersma Y, Moll HA, de Wit MC (2016)
Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex.
J Neurol. 2017 Jan;264(1):161-167

Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY (2016)
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Eur J Hum Genet. 2016 Dec;24(12):1688-1695

Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H,Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators., Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
RAD51B in Familial Breast Cancer.
PLoS One. 2016 May 5;11(5):e0153788.

Pinho R, Guedes LC, Soreq L, Lobo PP, Mestre T, Coelho M, Rosa MM, Goncalves N, Wales P, Mendes T, Gerhardt E, Fahlbusch C, Bonifati V, Bonin M, Miltenberger-Miltényi G, Borovecki F, Soreq H, Ferreira JJ, Outeiro TF.
Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.
PLoS One. 2016 Jun 20;11(6):e0157852.

Qin J, Wang Z, Hoogeveen-Westerveld M, Shen G, Gong W, Nellist M, Xu W (2016)
Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
J Biol Chem. pii: jbc.M115.701870. [Epub ahead of print] PubMed PMID: 6893383

Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, Graafland J, Breedveld GJ, Fabbrini G, Berardelli A, Bonifati V.
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
Mov Disord. 2016 May;31(5):765-7.

Reijnders MRF, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Man Wu K, Ravenswaaij-Arts CMA van, Veenstra-Knol HE, Anderlid BMM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Reid SuttonV, Stark Z, Vogt J, Cooper N, Ying Lim J, Price S, Hwei Meeng Lai A, Domingo D, Reversade B, the DDD Study, Gecz J, GIlissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
The American Journal of Human Genetics 98, 1-9, February 4, 2016

Rooij IA van,  van der Zanden LF, Bongers EM, Renkema KY, Wijers CH, Thonissen M, Dokter EM, Marcelis CL, de Blaauw I, Wijnen MH, Hoogerbrugge PM, Bokkerink JP, Schreuder MF, Koster-Kamphuis L, Cornelissen EA, Kapusta L, van Heijst AF, Liem KD, de Gier RP, Kuijpers-Jagtman AM, Admiraal RJ, Bergé SJ, van der Biezen JJ, Verdonck A, Vander Poorten V, Hens G, Roosenboom J, Lilien MR, de Jong TP, Broens P, Wijnen R, Brooks A, Franke B, Brunner HG, Carels CE, Knoers NV, Feitz WF, Roeleveld N.
AGORA, a data- and biobank for birth defects and childhood cancer
Birth Defects Res A Clin Mol Teratol. 2016;106:675-84

Rosa A De, Pellegrino T, Pappata S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G.
Non-motor symptons and cardiac innervation in SYNJ1-related parkinsonism
Parkinsonism Relat Disord. 2016 Feb;23:102-5.

Ruiz-Sala P, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MGM, Garcia-Villora J, Heiner-Fokkema MR, Jeannesson-Thivisol E , Leckstrom K, Franzson L, Lynes G, Oleson J, Onkenhout W, Petrou P, Drousiotou A, Ribes A,Vianey-Saban C, Merinero B.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
J Inherit Metab Dis. 2016 May;39(3):437-45. 

Sabanov V, Braat L, D'Andrea L, Willemsen R, Zeidler S, Rooms L, Bagni C, Kooy RF, Balschu D.
Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice.
Neuropharmacology, 116 , 71-81 (2016)

Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; ???
Tuberous Sclerosis Complex Working Group to Update the Research Plan (2016) Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.
Pediatr Neurol. pii: S0887-8994(16)30167-9.

Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat. 2016 Aug;37(8):755-64.

Schmidt MK, Hogervorst F, van Hien R, Cornelissen S, Broeks A, Adank MA, Meijers H, Waisfisz Q, Hollestelle A, Schutte M, van den Ouweland A, Hooning M, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Arndt V, Bermisheva M, Bogdanova V, Bolla MK, Brauch G, Brenner H, Brüning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Couch FJ, Cox A, Cross SS, Czene K, Dunning AM, Faschin Pa, Figueroa J, Fletcher O, Flyger H, Galle E, Garcia-Closas M, Giles GG, Haeberle L, Hall P, Hillemans P, Hopper JL, Jakuboska A, John EM, Jones M, Khusnutdinova E, Knight JA, Kosma V-M, Kristensen V, Lee A, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Mindl A, Milne RL, Muranen TA, Newcomb PA, Offit K, Park-Simon T-W, Peto J, Pharoah PDP, Robson M, Rudolph A, Sawyer AJ, Schmutzler RK, Seynaeve C, Soens J, Southey MC, Spurdle AB, Surowy H, Swerdlow A, Tollenaar RAEM, Tomlinson I, Trentham-Dietz A, Vachon C, Wang Q, Whittemore AS, Ziogas A, van der Kolk A, Nevanlinna H, Dork T, Bojesen S, Easton DF.
Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK21100delC Carriers
J Clin Oncol. 2016 Aug 10;34(23):2750-60

Schriemer D, Sribudiani Y, IJpma A, Natarajan D, MacKenzie KC, Metzger M, Binder E, Burns AJ, Thapar N, Hofstra RM, Eggen BJ Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes. (2016)
Dev Biol. 416:255-265

Shi J, Zhang Y, Zheng W, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Dennis J, Lush M, Milne RL, Shu XO, Beesley J, Kar S, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Zhao Z, Guo X, Benitez J, Beeghly-Fadiel A, Blot W, Bogdanova NV,
Bojesen SE, Brauch H, Brenner H, Brinton L, Broeks A, Brüning T, Burwinkel B, Cai H, Canisius S, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, Dork T, Fasching PA, Fletcher O, Flyger H, Fostira  F, Gaborieau V, García-Closas M, Giles GG, Grip M, Guenel P, Haiman CA, Hamann U, Hartman M, Miao H, Hollestelle A, Hopper JL, Hsiung CN; kConFab Investigators., Ito H, Jakubowska A, Johnson N, Torres D, Kabisch M, Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Matsuo K, McLean C, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Børresen-Dale AL, Olson JE, Orr N, van den Ouweland AM, Peterlongo P, Choudary Putti T, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Shen CY, Hou MF, Shrubsole MJ, Southey MC,
Swerdlow A, Hwang Teo S, Thienpont B, Toland AE, Tollenaar RA, Tomlinson I, Truong T, Tseng CC, Wen W, Winqvist R, Wu AH, Har Yip C, Zamora PM, Zheng Y, Floris G, Cheng CY, Hooning MJ, Martens JW, Seynaeve C, Kristensen VN, Hall P, Pharoah PD, Simard J, Chenevix-Trench G, Dunning AM, Antoniou AC, Easton DF, Cai  Q, Long J.
Fine-scale mapping of 8q24 locus identifies multiple independent risk  variants for breast cancer.
Int J Cancer. 2016 Sep 15;139(6):1303-17. :

Silva, C., I.V. Zorkoltseva, N. Amin, A. Demirkan, E.M. van Leeuwen, J.A. Kors, M. van den Berg, B.H. Stricker, A.G. Uitterlinden, A.V. Kirichenko,  J.C.M. Witteman, R. Willemsen, B.A. Oostra, T.I. Axenovich, C.M. van Duijn, A. Isaacs:
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.
Front Genet. 2016 Nov 8;7:190..

Smith T, Ho G, Christodoulou J, Price EA, Onadim Z, Gauthier-Villars M, Dehainault C, Houdayer C, Parfait B, van Minkelen R, Lohman D, Eyre-Walker A.
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Hum Mutat. 2016 May;37(5):488-94.

Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, Rensburg EJ van, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KBM, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Santos-Silva I dos, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaierm, Brauch H, Brüning T, Ko Y-D, Muranen TA, Aittomäki K, Blomqvist C, Bodanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma V-M, Hartikainen JM, Spurdle AB, kConFab Investigators, Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Jany D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Grenaker Alnaes G, Zhen W, Hunter Dj, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Gelndon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RAEM, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JWM, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MWR, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoujkakos D, Swerdlow A, Ashworth A, Orr N, Jones M., Gonzalez-Neura A, Pita G, Alonso MR, Alvarez N, Herrero e.a. 
PALB2, CHEK2 and ATM  rare variants and cancer rist: data from COGS
Cancer Genetics/J Med Genet 2016;53-800-811.

Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, Van Opstal D.
Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? Genet Med. 2016 Apr;18(4):307-8.

Srebniak MI, Diderich KE, Joosten M, Govaerts LC, Knijnenburg J, de Vries FA, Boter M, Lont D, Knapen MF, de Wit MC, Go AT, Galjaard RJ, Van Opstal D.
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Eur J Hum Genet. 2016 May;24(5):645-51.

Srebniak MI, de Wit MC, Diderich KE, Govaerts LC, Joosten M, Knapen MF, Bos MJ, Looye-Bruinsma GA, Koningen M, Go AT, Galjaard RJ, Van Opstal D.
Enlarged NT (=3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Mol Cytogenet. 2016 Sep 7;9(1):69.

Srebniak MI, van Zutven LJ, Petit F, Bouquillon S, van Heel IP, Knapen MF, Cornette JM, Kremer A, Van Opstal D, Diderich KE. Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
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Steen SL van der, Riedijk SR, Verhagen-Visser J, Govaerts LC, Srebniak MI, Van Opstal D, Joosten M, Knapen MF, Tibben A, Diderich KE, Galjaard RJ.
The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
J Genet Couns. 2016 Dec;25(6):1227-1234.

Steinfeld H, Cho MT, Retterer K, Person R, Shcaefer GB, Danylchuk N, Malik S, Burns Wechsel S, Wheeler PG, van Gassen KLI, Terhal PA, Verhoeven VJM, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features
Neurogenetics 2016 July; 17(3): 159-164

Stollberger C, Wegner C, Benatoar A, Chin TK, Danger J, Majoor-Krakauer D, Mondal TK, Sivanandam S, Silverman NH, van Waning J, Finsterer J.
Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction
Pediatric Cardiology, June 2016, Volume 37, Issue 5, pp. 919-924

Tideman JWL, Snabel MCC, Tedja MS, van Rijn GA, Wong KT, Kuijpers RWAM, Vingerling JR, Hofman A, Buitendijk GHS, Keunen JEE, Boon CJF, Geerards AJM, Luyten GPM, Verhoeven VJM, Klaver CCW.
Association of Axial Length With Risk of Uncorrectable Visual Impairment for Europeans With Myopia
JAMA Ophthalmology 2016; 134(12):1355-1363

Tideman JWL, Polling JR, van der Schans A, Verhoeven VJM, Klaver CCW.
Bijziendheid, een groeiend probleem
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Torroglosa A, Alves, Fernández R, Antiñolo G, Hofstra R, Borrego S.
Epigenetics in ENS development and Hirschsprung Disease.(2016)
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Velzen HG van, Vriesendorp PA, Oldenburg RA, Slegtenhorst MA van, Velden J. van der, Schinkel AFL, Michels M.
Value of Genetic Testing fort he Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy
Am J Cardiol. 2016 Sep 15;118(6):881-7

Vries JM de, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, Beek NAME van der, Kruijshaar ME, Rizopoulos D, Doorn PA van, Ploeg AT van der, Pijnappel WWM.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Genet Med. 2017 Jan;19(1):90-97

Vroegindeweij LH, Langendonk JG, Langeveld M, Hoogendoorn M, Kievit AJ, Di Raimondo D, Wilson JH, Boon AJ.
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.
Parkinsonism Relat Disord. 2016 Dec 15. pii: S1353-8020(16)30491-6. doi: 10.1016/j.parkreldis.2016.12.010. [Epub ahead of print]PMID: 28012953

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, Gestel TJ van, Groen S in 't, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, Schaik RH van, Ploeg AT van der, Doorn PA van, Pijnappel WWM.
Elevated Plasma Cardiac Troponin T Levels duet of Skeletal Muscle Damage in Pompe Disease
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Willem J, Tideman MD, Snabel MCC, Tedja MS, van Rijn GA, Wong KT, Kuijpers RWAM, Vingerling JR, Hofman A, Buitendijk GHS, Keunen JEE, Boon CJF, Geerards AJM, Luyten GPM, Verhoeven VJM, Klaver CCW.
Association of Axial Length With Risk of Uncorrectable Visual Impairment for Europeans With Myopia
JAMA Opthalmology, 2016: 134(12):1355-1363

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
European Journal of Human Genetics 24, 1424-1429

Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER.
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
JAMA Oncol. 2016 Mar;2(3):373-9

Widowati T, Melhem S, Patria SY, de Graaf BM, Sinke RJ, Viel M, Dijkhuis J, Sadewa AH, Purwohardjono R, Soenarto Y, Hofstra RMW, Sribudiani Y.
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. (2016)
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Wit MC de, Srebniak MI, Joosten M, Govaerts LC, Kornelisse RF, Papatsonis DN, De Graaff K, Knapen MF, Bruggenwirth HT, De Vries FA, Van Veen S, Van Opstal D, Galjaard RJ, Go AT.
Prenatal and postnatal findings in small for gestational age fetuses without structural ultrasound anomalies at 18-24 weeks. Ultrasound Obstet Gynecol. 2016 Apr 22.

Wyszynski A, Hong C-C, Lam K, Michailidou K, Lytle C, Yao S, Zhang Y, Bolla MK, Wang Q, Dennis J, Hopper JL, Southyey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Peto J, dos Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Gonzalez-Neira A., Benitez J, Neuhausen SL, Brenner H, Dieffenbach AK, Meindl A, Schmutzler RK, Brauch H, The Genica Network, Nevanlinna H, Khan S, Matsuo K, Ito H, Dörk T, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kosma V-M, kConFab Investigators, Australian Ovarian Cancer Study Group, Wu Ah, van den Berg D, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Couch FJ, Olson JE,Giles GG, Milne RL, Hairman CA, HendersonBE, Dumont M, Teo SH, Wong TY,Kristensen V, Zheng W, Long J, Winqvist R, Pylkas K, Andrulis IL, Knight JA, Devilee P, Seynaeve C, García-Closas M, Figueroa J,Klevebring D, Czene K, Hooning MJ.
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Human Molecular Genetics 2016, Vol. 25, No 17, pp.3863-3876

Yavuzyigitoglu S, Mensink HW, Smit KN, Vaarwater J, Verdijk RM, Beverloo B, Brüggenwirth HT, van Marion R, Dubbink HJ, Paridaens D, Naus NC, de Klein A, Kiliç E. Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations. Invest Ophthalmol Vis Sci. 2016 Apr 1;57(4):2232-9. doi: 10.1167/iovs.15-18608.Yavuzyigitoglu S, Koopmans AE, Verdijk RM, Vaarwater J, Eussen B, van Bodegom A, Paridaens D, Kilic E, de Klein A, on behalf of the Rotterdam Ocular Melanoma Study Group.
Uveal Melanomas with SF3B1 Mutations
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Yilmaz S, Gokben S, Serdaroglu G, Eraslan C, Mancini GM, Tekin H, Tekgul H.
The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.
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Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJC, Pennings RJE, Kunst HPM, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PAM, Kant SG, de Geus CM, Frints SGM, Vanhoutte EK, van Dooren MF, van den Boogaard M-JH, Scheffer H, Nelen M, Kremer, Hoefsloot L, Schraders M, Yntema HG.
The diagnostic yield of whole-exame sequencing targeting a gene panel for hearing impairment in The Netherlands.
Eur J Hum Genet. 2016 Apr;24(4):542-9.  
 
Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni  B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning  T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M,  De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F; EMBRACE., Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D; behalf of GEMO Study Collaborators., Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S; HEBON.,  Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John  EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin  MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio
A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G; KConFab.; AOCS Investigators., Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W.
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Breast Cancer Res. 2016 Jun 21;18(1):64.