Dean Biosciences Institute

Jacobson chair of Personalized Medicine
Royal Society Wolfson Research Merit Award Holder
Honorary Clinical Scientist, North East and North Cumbria NHS Genomics Medicine Centre (2018-2020).

Areas of expertise

• Genomics technology
• Male infertility genetics
• Translational genomics
• Personalised medicine

Major Grants

• Wellcome Trust Investigator Award in Science (2017).

• Australian National Health and Medical Research Council (2016, dr. M. O’Bryan principal applicant).

• VICI grant, Netherlands Organization for Scientific Research (2015).

• Equipment grant for supercomputer and ICT infrastructure, Province of Gelderland (2014).    

• TOP-grant, Netherlands Organisation for Health Research and Development (2012, dr. B. de Vries principal applicant).

• Translational research grant, Netherlands Organisation for Health Research and Development (2012).

• ERC starting grant (consolidator category), EU 7^th frame work project (2011).

• NGI Booster grant; Netherlands Consortium for Personalized Genome Diagnostics (2011, prof.dr. E. Cuppen principal applicant).

• GEUVADIS, EU 7^th frame work project (2010, dr. X. Estivill principal applicant).

• NWO equipment grant (2008)

• TECHGENE, EU 7^th frame work project (2008, dr. H. Scheffer principal applicant).

• AnEUploidy, EU 6^th frame work project (2006, prof. S. Antonarakis principal applicant)

• VIDI grant, Netherlands Organization for Scientific Research (2005)

Prizes and awards:

• Elected Fellow of the Academy of Medical Sciences (2021)

• Royal Society Wolfson Research Merit Award (2017)

• King Faisal International Prize for Medicine (co-winner with Han Brunner, 2016).

• Pearl project award, Netherlands Organisation for Health Research and Development (2013).

• Radboud Science Award, Radboud University Nijmegen (together with Han Brunner, 2011).

• “Isabella Oberlé Award”, European Human Genetics Conference, Birmingham, United Kingdom (2003).

• Award for best oral presentation, 7th European Workshop on Cytogenetics and Molecular Genetics of Human Solid Tumours, Edinburgh, United Kingdom (2000).

Academic activities

• Member, Wellcome Trust Genetics and Genomics Discovery Advisory Group (2022-2024). 

• Chair, Annual Meeting Committee, European Society of Human Genetics (2021-present).

• Member sectional committee, Academy of Medical Sciences (2021-2024).

• Chair (2016-2021) and Member (2011-2015), Scientific Program Committee for the annual meeting of the European Society of Human Genetics.

• Member, Wellcome Trust Genetics, Genomics and Population Research Expert Review Group (2018, 2020-2021).

• Member, Male Reproductive Health Initiative (MRHI), a global collaboration supported by the European Society of Human Reproduction and Embryology (2020-present).

• Member, Steering Committee, Canadian COVID-19 Genomics Network, Genome Canada (2020-present).

• Member, Scientific Programme Committee, International Congress of Human Genetics 2023, Cape Town, South Africa (2019-present).

• Member, Nominating Committee, American Society of Human Genetics (2020-2023).

• International Scientific Advisor, Institute of Human Genetics, Foundation for Research In Genetics & Endocrinology, Ahmedabad, India (2019-present).

• Member, International Selection Committee 2019 King Faisal Prize, King Faisal Prize foundation, Saudi Arabia (2019).

• Member, International Selection Panel, Generet Award for Rare Diseases, Fund for Scientific Research-FNRS, the Belgian Research Funding Agency (2018-present).

• Member, selection panel, Princess Nourah bint Abdulrahman Prize for Women’s Excellence, Princess Nourah bint Abdulrahman University, Saudi Arabia (2019).

• Member, Scientific Advisory Board of NorSeq, national research infrastructure for sequencing in Norway (2017).

• Member, Scientific Advisory Board, genomics programme, UK Epilepsy Society (2017).

• Member, evaluation panel France Genomic Medicine Plan 2025 (2017).

• Member, International advisory committee, Psychiatric Genomics Consortium, National Institute for Mental Health PGC3 grant (2016-2018).

• Member, NHS rare disease transition working group (2017).

• Founder, International Male Infertility Genomics Consortium, together with dr. O’Bryan, dr. McLachlan, dr. Conrad and dr. Aston (2016).

• Member, Horizon 2020 ERC Starting Grants, life sciences panel (2014, 2016).

• Member, Scientific Evaluation Committee of the E-Rare joint transnational call 2015 (2015).

• Director, Next Generation Sequencing course, European Society of Human Genetics in partnership with the European School of Genetic Medicine, Bologna, Italy (2011, 2013-2016).

• Chair, Research Oversight Committee, Genome Canada project on Personalized Medicine and Genomics project in Epilepsy, by prof. Cossette (2013-present).

• Member, Annual Review Committee, Simons Foundation Autism Research Initiative, New York, USA (2014).

• Member, review committee, research council health, Academy of Finland, Helsinki, Finland (2014,2015).

• Faculty member, "Medical Genetics course", European School of Genetic Medicine, Bologna, Italy (2005, 2010-2015).

• Member, International Review Committee, Institute Imagine, Necker Hospital, Paris, France (2013).

• Member, College of Reviewers, Genome Canada's 2012 large-scale applied research project competition in genomics and personalized health ($135M), Canada (2012).

• Member, Scientific Council of CAGI (Critical Assessment of Genome Interpretation), (2011-present).

• Member, Scientific Steering Committee GEUVADIS, a European Initiative for Medical Genome Sequencing (2008-2014).

• Member, review committee National French Call for Research on Rare Diseases (2007).

• Member, International Science Review Committee, Genome Canada, Canada (2006).

• Member, scientific committee Marie-Curie conference course on array CGH and molecular cytogenetics (2004-2006).

• Reviewer, Wellcome Trust, the National Health Services, Oxford Biomedical Research Centre, Genome Canada, French National Research Agency, Health Research Council New Zealand as well as for many international scientific journals (2003-present).

Editorial boards

• Member editorial board “Genes”, Europe PMC open access journal (2018).

• Member editorial board “OBM Genetics”, Open BioMedical Publishing, open access journal (2017-now).

• Member editorial board “Clinical Genetics”, John Wiley and Sons (2016-now).

• Guest editor, special issue of “Genome Medicine” entitled “Diagnostic genomics”, together with prof. J. Lupski (2015).

• Associate editor "American Journal of Human Genetics", Cell Press (2015-2017).

• Member editorial board "Genome Medicine", BioMed Central open access journal (2013-now),

• Member editorial board "Medical Genetics and Genome Medicine", John Wiley and Sons, open access journal (2012-now).

How is it possible that severe early-onset disorders are mostly genetic in origin, even though the disorders are not inherited because of their effect on fitness? Our research using state-of-the-art genomics approaches in patient-parent trios have recently indicated that most of these disorders are caused by de novo germline mutations, arising mostly in the paternal lineage. We have pioneered the implementation of genomics approaches in medicine and showed that de novo germline mutations are the major cause of severe intellectual disability. Trio-based genome sequencing in patients and their parents allowed us to start understanding mutational processes and establish links between the occurrence and frequency of these mutations and risk factors. Most notably, work by others and us has clearly demonstrated that advanced paternal age is a risk factor for severe genetic disorders in the offspring.

Our research in Newcastle is focused on the genetics in male infertility, a severely understudied disorder that cannot be inherited without the use of assisted reproductive technologies, again pointing to a role for de novo mutations. In order to study this we work closely together with dr. Kevin McEleny in the NHS Fertility Clinic in Newcastle. Also, we have established local, national and international collaborations, and I co-founded the International Male Infertility Genomics Consortium. With funding from the Netherlands Organization for Scientific Research, the Royal Society and the Wellcome Trust we are performing large-scale genomics studies in severe male infertility, aiming to identify the underlying causes and improve diagnostics. In addition, we use genomics to study the effect of assisted reproductive technologies on the genomic health of the offspring.

Lab members:

Miguel Xavier - Postdoctoral fellow

Giles Holt - Postdoctoral fellow

Bilal Alobaidi - Senior Research technician

Lois Batty - Research technician

Jackie Greenwood - Research nurse

Hannah Smith - PhD student

Oguzhan Kalyon - PhD student

Shrooq Alzahrani - PhD student

Cristina Diaz - PhD student

Alumni:

Hadeel Ismail

Harsh Sheth

Francisco Kumara Mastrorosa

• Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Consortium GEMINI, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tuttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. A de novo paradigm for male infertility. Nature Communications 2022, 13(154).
• Smits RM, Xavier MJ, Oud MS, Astuti GDN, Meijerink AM, de Vries PF, Holt GS, Alobaidi BKS, Batty LE, Khazeeva G, Sablauskas K, Vissers LELM, Gilissen C, Fleischer K, Braat DDM, Ramos L, Veltman JA. De novo mutations in children born after medical assisted reproduction. Human Reproduction 2022, 37(6), 1360-1369.
• Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sanchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castane E, Azorin F, Veltman JA, Aston KI, Conrad DF, Tuttelmann F, Krausz C. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. American Journal of Human Genetics 2022, 109(8), 1458-1471.
• Holt GS, Batty LE, Alobaidi BKS, Smith HE, Oud MS, Ramos L, Xavier MJ, Veltman JA. Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach. Human Mutation 2022, 43(11), 1545-1556.
• Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Human Reproduction Update 2021, dmab030.
• Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Toure A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan Y-Q, Zhang F. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. American Journal of Human Genetics 2021, 108(2), 309-323.
• Goldmann JM, Hampstead JE, Wong WSW, Wilfert AB, Turner TN, Jonker MA, Bernier R, Huynen MA, Eichler EE, Veltman JA, Maxwell GL, Gilissen C. Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity. Genome Research 2021, 31(9), 1513-1518.
• Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman JA. Disease gene discovery in male infertility: Past, Present and Future. Human Genetics 2021, 140, 7-19.
• Oud MS, Houston BJ, Volozonoka L, Mastrorosa FK, Holt GS, Alobaidi BKS, deVries PF, Astuti G, Ramos L, Mclachlan RI, O'Bryan MK, Veltman JA, Chemes HE, Sheth H. Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders. Human Reproduction 2021, 36(9), 2597-2611.
• Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tuttelmann F, Conrad DF, Veltman JA. Lack of evidence for a role of PIWIL1 variants in human male infertility. Cell 2021, 184(8), 1941-1942.
• Nagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K. Variant PNLDC1, Defective piRNA Processing, and Azoospermia. New England Journal of Medicine 2021, 385, 707-719.
• Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN, Consortium GEMINI. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics 2021, 140(8), 1169-1182.
• Gunadi, Kalim AS, Budi NYP, Hafiq HM, Maharani A, Febrianti M, Ryantono F, Yulianda D, Iskandar K, Veltman JA. Aberrant expressions and variant screening of SEMA3D in indonesian Hirschsprung patients. Frontiers in Pediatrics 2020, 8, 60.
• Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Cetinkaya M, Basar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F. Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility. American Journal of Human Genetics 2020, 107(2), 342-351.
• Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA. Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Human Reproduction 2020, 35(1), 240-252.
• Serio MC, Graham LA, Ashikov A, Larsen LA, Raymond K, Timal S, Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, RiosOcampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Mutations in the V‐ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease. Hepatology 2020, 72(6), 1968-1986.
• Houston BJ, Oud MS, Aguirre DM, Merriner DJ, O'Connor AE, Okutman O, Viville S, Burke R, Veltman JA, O'Bryan MK. Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development. G3 Genes|Genomes|Genetics 2020, 10(12), 4449-4457.
• Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male infertility genes. Human reproduction 2019, 34(5), 932-941.
• Jaeger M, Pinelli M, Borghi M, Constantini C, Dindo M, van Emst L, Puccetti M, Pariano M, Ricaño-Ponce I, Büll C, Gresnigt MS, Wang X, Gutierrez Achury J, Jacobs CWM, Xu N, Oosting M, Arts P, Joosten LAB, van de Veerdonk FL, Veltman JA, Ten Oever J, Kullberg BJ, Feng M, Adema GJ, Wijmenga C, Kumar V, Sobel J, Gilissen C, Romani L, Netea MG. A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis. Science Translational Medicine 2019, 11(496).
• Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard M-J, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics 2019, 27(5), 738-746.
• Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Al Saleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp A, Moilanen J, Nelen M, ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Medicine 2019, 11, 38.
• Wiel L, Baakman C, Gilissen D, Veltman JA, Vriend G, Gilissen C. MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. Human Mutation 2019, 40(8), 1030-1038.
• Lipinski S, Petersen B-S, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Krawczak M, Gilissen C, Veltman JA, Forster M, Forster P, Lee CC, Fritscher-Ravens A, Schreiber S, Franke A, Rosenstiel P. Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. Cold Spring Harbor Molecular Case Studies 2019, 5(1), a002428.
• Nicolas G, Veltman JA. The role of de novo mutations in adult-onset neurodegenerative disorders. Acta Neuropathologica 2019, 137(2), 183-207.
• Jansen S, Hoischen A, Coe BP, Carvill GL, van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin M-L, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries PD, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics 2018, 26, 54-63.
• Goldmann JM, Seplyarskiy VB, Wong WSW, Vilboux T, Neerincx PD, Bodian DL, Solomon BD, Veltman JA, Deeken JF, Gilissen C, Niederhuber JE. Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence. Nature Genetics 2018, 50(4), 487-492.
• Goldmann JM, Seplyarskiy VB, Wong WSW, Vilboux T, Neerincx PB, Bodian DL, Solomon BD, Veltman JA, Deeken JF, Gilissen C, Niederhuber JE. Germline de Novo Mutation Clusters Arise during Oocyte Aging in Genomic Regions with High Double-Strand-Break Incidence. Obstetrical and Gynecological Survey 2018, 73(9), 531-532.
• Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PFR, Saada A, Sainz Jr B, Alvemini H, Schoots MH, Smeitink JA, Szukszto MJ, ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNA^Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature Communications 2018, 9, 4065.
• Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MAAP. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genetics in Medicine 2017, 19, 1055-1063.
• Wiel L, Venselaar H, Veltman JA, Vriend G, Gilissen C. Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. Human Mutation 2017, 38(11), 1454-1463.
• Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Muhlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, v Spronsen F, Derks TGJ, Veenstra-Knol HE, Mayr JA, Rotig A, Tarnopolsky M, Prokisch H, Rodenburg RJ. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human Mutation 2017, 38(12), 1786-1795.
• Nicolas G, Charbonnier C, Campion D, Veltman JA. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2017, 177(1), 68-74.
• Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LMA, Borges Ferreira V, Horovitz DDG, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenco C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BBA, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics 2017, 13(3), e1006683.
• Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. American Journal of Human Genetics 2017, 101(3), 478-484.
• Acuna-Hidalgo R, Sengul H, Steehouwer M, van de Vorst M, Vermeulen SH, Kiemeney LALM, Veltman JA, Gilissen C, Hoischen A. Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life. American Journal of Human Genetics 2017, 101(1), 50-64.
• Oud MS, Ramos L, O'Bryan MK, Mclachlan RI, Okutman O, Viville S, de Vries PF, Smeets DF, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LE, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ. Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Human Mutation 2017, 38(11), 1592-1605.
• Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nature Communications 2016, 7, 11600.
• Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nature Reviews Genetics 2016, 17, 9-18.
• Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience 2016, 19, 1194-1196.
• Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biology 2016, 17, 241.
• Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Parent-of-origin-specific signatures of de novo mutations. Nature Genetics 2016, 48, 935-939.
• Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. American Journal of Human Genetics 2016, 98, 322-330.
• Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. American Journal of Human Genetics 2015, 97, 67-74.
• Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014, 511, 344-347.
• Thung D, de Ligt J, Vissers L, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY. Mobster: accurate detection of mobile element insertions in next generation sequencing data. Genome Biology 2014, 15, 488.
• Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LAB, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JWM, Netea MG. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant Chronic Mucocutaneous Candidiasis. PLoS One 2011, 6(12), e29248.
• van de Veerdonk FL, Plantinga TA, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, van der Graaf CAA, Kullberg BJ, van der Meer JWM, Lilic D, Veltman JA, Netea MG. STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New England Journal of Medicine 2011, 365, 54-61.
• Hoischen A, van Bon BWM, Rodriguez-Santiago B, Gilissen C, Vissers LELM, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BBBA. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. NATURE GENETICS 2011, 43(8), 729-731.
• Hoischen A, Van Bon B, Gilissen C, Arts P, Van Lier B, Steehouwer M, De Vries P, De Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim M, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes I, Thompson E, Brunner H, De Vries B, Veltman J. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics 2010, 42(6), 483-485.
• Vermeer S, Hoischen A, Meijer RPP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BPC, Schijvenaars MMVAP, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia. American Journal of Human Genetics 2010, 87(6), 813-819.
• Lugtenberg D, de Brouwer APM, Kleefstra T, Oudakker AR, Frints SGM, Schrander-Stumpel CTRM, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BCJ, de Vries BBA, van Bokhoven H, Yntema HG. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. Journal of Medical Genetics 2006, 43(4), 362-370.