Publications 2014

The diagnostic pathway in complex paediatric neurology: A cost analysis van Nimwegen KJ1, Schieving JH2, Willemsen MA3, Veltman JA4, van der Burg S5, van der Wilt GJ6, Grutters JP7
Eur J Paediatr Neurol. 2014 Dec 29. pii: S1090-3798(14)00216-5. doi: 10.1016/j.ejpn.2014.12.014. [Epub ahead of print]


Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder Kumar R1, Corbett MA2, Smith NJ3, Jolly LA2, Tan C2, Keating DJ4, Duffield MD4, Utsumi T5, Moriya K5, Smith KR6, Hoischen A7, Abbott K8, Harbord MG9, Compton AG10, Woenig JA1, Arts P7, Kwint M7, Wieskamp N7, Gijsen S7, Veltman JA7, Bahlo M11, Gleeson JG12, Haan E13, Gecz J14.
Hum Mol Genet. 2014 Dec 11. pii: ddu614. [Epub ahead of print]


Exome sequencing identifies three novel candidate genes implicated in intellectual disability Agha Z1, Iqbal Z2, Azam M3, Ayub H3, Vissers LE2, Gilissen C2, Ali SH3, Riaz M3, Veltman JA2, Pfundt R2, van Bokhoven H4, Qamar R5.
PLoS One. 2014 Nov 18;9(11):e112687. doi: 10.1371/journal.pone.0112687. eCollection 2014


Mobster: accurate detection of mobile element insertions in next generation sequencing data Thung D, de Ligt J, Vissers L, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY.
Genome Biol. 2014 Oct 28;15(10):488. [Epub ahead of print]


Clinical interpretation of CNVs with cross-species phenotype data Köhler S1, Schoeneberg U2, Czeschik JC3, Doelken SC4, Hehir-Kwa JY5, Ibn-Salem J4, Mungall CJ6, Smedley D7, Haendel MA8, Robinson PN9.
J Med Genet. 2014 Nov;51(11):766-72. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3


Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories Thung DT1, Beulen L, Hehir-Kwa J, Faas BH.
Expert Rev Mol Diagn. 2015 Jan;15(1):111-24. doi: 10.1586/14737159.2015.973857. Epub 2014 Oct 27.


Human TLR10 is an anti-inflammatory pattern-recognition receptor Oosting M1, Cheng SC1, Bolscher JM2, Vestering-Stenger R1, Plantinga TS1, Verschueren IC1, Arts P3, Garritsen A2, van Eenennaam H2, Sturm P4, Kullberg BJ1, Hoischen A3, Adema GJ5, van der Meer JW1, Netea MG1, Joosten LA6
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4478-84. doi: 10.1073/pnas.1410293111. Epub 2014 Oct 6


Refining analyses of copy number variation identifies specific genes associated with developmental delay Coe BP1, Witherspoon K1, Rosenfeld JA2, van Bon BW3, Vulto-van Silfhout AT4, Bosco P5, Friend KL6, Baker C1, Buono S5, Vissers LE4, Schuurs-Hoeijmakers JH4, Hoischen A4, Pfundt R4, Krumm N1, Carvill GL7, Li D8, Amaral D8, Brown N9, Lockhart PJ10, Scheffer IE11, Alberti A5, Shaw M6, Pettinato R5, Tervo R12, de Leeuw N4, Reijnders MR4, Torchia BS2, Peeters H13, O'Roak BJ14, Fichera M15, Hehir-Kwa JY4, Shendure J1, Mefford HC7, Haan E16, Gécz J17, de Vries BB4, Romano C5, Eichler EE18.
Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14


Meningitis in HIV-positive patients in sub-Saharan Africa: a review Veltman JA1, Bristow CC2, Klausner JD3
J Int AIDS Soc. 2014 Oct 10;17:19184. doi: 10.7448/IAS.17.1.19184. eCollection 2014


Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity De Rocker N1, Vergult S1, Koolen D2, Jacobs E1, Hoischen A2, Zeesman S3, Bang B4, Béna F5, Bockaert N6, Bongers EM2, de Ravel T7, Devriendt K7, Giglio S8, Faivre L9, Joss S10, Maas S11, Marle N9, Novara F12, Nowaczyk MJ13, Peeters H7, Polstra A11, Roelens F14, Rosenberg C15, Thevenon J9, Tümer Z16, Vanhauwaert S1, Varvagiannis K5, Willaert A1, Willemsen M2, Willems M17, Zuffardi O12, Coucke P1, Speleman F1, Eichler EE18, Kleefstra T2, Menten B1.
Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.124. [Epub ahead of print]


Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway Acuna-Hidalgo R1, Schanze D2, Kariminejad A3, Nordgren A4, Kariminejad MH3, Conner P5, Grigelioniene G4, Nilsson D4, Nordenskjöld M4, Wedell A6, Freyer C7, Wredenberg A7, Wieczorek D8, Gillessen-Kaesbach G9, Kayserili H10, Elcioglu N11, Ghaderi-Sohi S3, Goodarzi P3, Setayesh H3, van de Vorst M1, Steehouwer M1, Pfundt R1, Krabichler B12, Curry C13, MacKenzie MG14, Boycott KM14, Gilissen C1, Janecke AR15, Hoischen A16, Zenker M2.
Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21


Whole-genome sequence variation, population structure and demographic history of the Dutch population Genome of the Netherlands Consortium.
Nat Genet. 2014 Aug;46(8):818-25. doi: 10.1038/ng.3021. Epub 2014 Jun 29


Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders Campbell IM1, Yuan B1, Robberecht C2, Pfundt R3, Szafranski P1, McEntagart ME4, Nagamani SC5, Erez A5, Bartnik M6, Wiśniowiecka-Kowalnik B6, Plunkett KS1, Pursley AN1, Kang SH1, Bi W1, Lalani SR5, Bacino CA5, Vast M4, Marks K4, Patton M4, Olofsson P7, Patel A1, Veltman JA3, Cheung SW1, Shaw CA1, Vissers LE3, Vermeesch JR2, Lupski JR8, Stankiewicz P9.
Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31


Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Verloes A1, Di Donato N2, Masliah-Planchon J3, Jongmans M4, Abdul-Raman OA5, Albrecht B6, Allanson J7, Brunner H4, Bertola D8, Chassaing N9, David A10, Devriendt K11, Eftekhari P12, Drouin-Garraud V13, Faravelli F14, Faivre L15, Giuliano F16, Guion Almeida L17, Juncos J18, Kempers M4, Eker HK19, Lacombe D20, Lin A21, Mancini G22, Melis D23, Lourenço CM24, Siu VM25, Morin G26, Nezarati M27, Nowaczyk MJ28, Ramer JC29, Osimani S3, Philip N30, Pierpont ME31, Procaccio V32, Roseli ZS17, Rossi M33, Rusu C34, Sznajer Y35, Templin L30, Uliana V14, Klaus M36, Van Bon B4, Van Ravenswaaij C37, Wainer B38, Fry AE39, Rump A2, Hoischen A4, Drunat S3, Rivière JB40, Dobyns WB41, Pilz DT39.
Eur J Hum Genet. 2014 Jul 23. doi: 10.1038/ejhg.2014.95. [Epub ahead of print]


Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Vissers LE1, Bonetti M2, Paardekooper Overman J2, Nillesen WM3, Frints SG4, de Ligt J1, Zampino G5, Justino A6, Machado JC6, Schepens M3, Brunner HG1, Veltman JA1, Scheffer H3, Gros P7, Costa JL6, Tartaglia M8, van der Burgt I3, Yntema HG9, den Hertog J10.
Eur J Hum Genet. 2014 Jun 18. doi: 10.1038/ejhg.2014.115. [Epub ahead of print]


Genome sequencing identifies major causes of severe intellectual disability 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.
Nature. 2014 Jun 4. doi: 10.1038/nature13394. [Epub ahead of print]


Prioritization of neurodevelopmental disease genes by discovery of new mutations Hoischen A, Krumm N, Eichler EE.
Nat Neurosci. 2014 Jun;17(6):764-72. doi: 10.1038/nn.3703. Epub 2014 May 27.


Genetic diseases and molecular genetics. Athanasiou Y, Zavros M, Arsali M, Papazachariou L, Demosthenous P, Savva I, Voskarides K, Deltas C, Pierides A, Feriozzi S, Perrin A, West M, Nicholls K, Sunder-Plassmann G, Torras J, Neumann P, Cybulla M; Fabry Outcome Survey Renal Working Group, Cofiell R, Kukreja A, Bedard K, Yan Y, Mickle A, Ogawa M, Bedrosian C, Faas S, Mészáros K, Pruess L, Gondan M, Ritz E, Schaefer F, Testa A, Spoto B, Leonardis D, Sanguedolce MC, Pisano A, Parlongo MR, Tripepi G, Mallamaci F, Zoccali C; - On Behalf Of The MAURO Working Group, Trujillano D, Bullich G, Ballarin J, Torra R, Estivill X, Ars E, Kleber ME, Delgado G, Grammer TB, Silbernagel G, Kraemer BK, Maerz W, Riccio E, Pisani A, Abdalla AA, Malone AF, Winn MP, Goodship T, Cronin C, Conlon PJ, Casserly LF, Nishio S, Sakuhara Y, Matsuoka N, Yamamoto J, Nakazawa D, Nakagakaki T, Abo D, Shibazaki S, Atsumi T, Mazzinghi B, Giglio S, Provenzano A, Becherucci F, Sansavini G, Ravaglia F, Roperto RM, Murer L, Lasagni L, Materassi M, Romagnani P, Schmidts M, Christou S, Cortes C, McInerney-Leo A, Kayserili H, Zankl A, Peter S, Duncan E; Ukok Consortium, Wicking C, Beales PL, Mitchison H, Magestro M, Vekeman F, Nichols T, Karner P, Duh MS, Srivastava B, Van Doorn-Khosrovani SB, Zonnenberg BA, Musetti C, Quaglia M, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P, Garrido P, Fernandes JC, Ribeiro S, Belo L, Costa EC, Reis F, Santos-Silva A, Youssef DM, Alshal AS, Salah K, Rashed AE, Kingswood JC, Jozwiak S, Belousova E, Frost M, Kuperman R, Bebin EM, Korf B, Flamini JR, Kohrman MH, Sparagana S, Wu JY, Berkowitz N, Miao S, Segal S, Ridolfi A, Bissler JJ, Franz DN, Oud MM, Van Bon BW, Bongers EM, Hoischen A, Marcelis CL, De Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH, Van Eerde AM, Van Der Zwaag B, Lilien MR, Renkema KY, De Borst MH, Van Haaften G, Giles RH, Navis GJ, Knoers NV, Lu KC, Su SL, Gigante M, Santangelo L, Diella S, Argentiero L, Cianciotta F, Martino M, Ranieri E, Grandaliano G, Giordano M, Gesualdo L, Fernandes J, Ribeiro S, Garrido P, Sereno J, Costa E, Reis F, Santos-Silva A, Chub O, Aires I, Polidori D, Santos AR, Brito Costa A, Simoes C, Rueff J, Nolasco F, Calado J, Van Der Tol L, Biegstraaten M, Florquin S, Vogt L, Van Den Bergh Weerman MA, Hollak CE, Hughes DA, Lachmann RH, Oliveira JP, Ortiz A, Svarstad E, Terryn W, Tøndel C, Waldek S, Wanner C, West ML, Linthorst GE, Kaesler N, Brandenburg V, Theuwissen E, Vermeer C, Floege J, Schlieper G, Krüger T, Xydakis D, Goulielmos G, Antonaki E, Stylianoy K, Sfakianaki M, Papadogiannakis A, Dafnis E, Mdimegh S, Ben Hadj Mbarek-Fredj I, Moussa A, Omezzine A, Zellama D, Mabrouk S, Zouari N, Hassayoun S, Chemli J, Achour A, Bouslama A, Abroug S, Spoto B, Leonardis D, Politi C, Pisano A, Cutrupi S, Testa A, Parlongo RM, D'Arrigo G, Tripepi G, Mallamaci F, Zoccali C; - On Behalf Of The MAURO Working Group, Mdimegh S, Ben Hadj Mbarek-Fredj I, Moussa A, Omezzine A, Mabrouk S, Zouari N, Hassayoun S, Chemli J, Zellama D, Achour A, Bouslama A, Abroug S, Hohenstein-Scheibenecker K, Schmidt A, Stylianou KG, Kyriazis J, Androvitsanea A, Tzanakakis M, Maragkaki E, Petrakis J, Stratakis S, Poulidaki R, Vardaki E, Petra C, Statigis S, Perakis K, Daphnis E, Cybulla M, West M, Nicholls K, Torras J, Neumann P, Sunder-Plassmann G, Feriozzi S; Fabry Outcome Survey Renal Working Group, Metzinger-Le Meuth V, Taïbi F, M'Baya-Moutoula E, Louvet L, Massy Z, Metzinger L, Mani LY, Sidler D, Vogt B, Nikolskaya N, Cox JA, Kingswood JC, Smirnov A, Zarayski M, Kayukov I, Karunnaya H, Sipovski V, Kukoleva L, Dobronravov V.
Nephrol Dial Transplant. 2014 May;29 Suppl 3:iii339-iii350. doi: 10.1093/ndt/gfu162


Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress Sie AS, Prins JB, van Zelst-Stams WA, Veltman JA, Feenstra I, Hoogerbrugge N.
Clin Genet. 2014 May 23. doi: 10.1111/cge.12433. [Epub ahead of print]


Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB.
Am J Hum Genet. 2014 May 1;94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10.


Cord Blood Mesenchymal Stem Cells Suppress DC-T Cell Proliferation via Prostaglandin B2 van den Berk LC, Jansen BJ, Snowden S, Siebers-Vermeulen KG, Gilissen C, Kögler G, Figdor CG, Wheelock CE, Torensma R
Stem Cells Dev. 2014 Apr 23. [Epub ahead of print]


Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene Cooper PE1, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG
Hum Mutat. 2014 Apr 2. doi: 10.1002/humu.22555. [Epub ahead of print]


Early presentation of cystic kidneys in a family with a homozygous INVS mutation Oud MM1, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH
Am J Med Genet A. 2014 Mar 26. doi: 10.1002/ajmg.a.36501. [Epub ahead of print]


An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.
Genome Biol. 2014 Mar 25;15(3):R53. [Epub ahead of print]


Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP
Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. doi: 10.1073/pnas.1309438111. Epub 2014 Mar 24


Dominant ß-catenin mutations cause intellectual disability with recognizable syndromic features Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.
Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1.


Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM
J Clin Invest. 2014 Apr 1;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10


Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, Del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M1.
Eur J Hum Genet. 2014 Apr 30. doi: 10.1038/ejhg.2014.83. [Epub ahead of print]


A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma Ajmal M, Khan M, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP
J Med Genet. 2014 Apr 15. doi: 10.1136/jmedgenet-2014-102316. [Epub ahead of print]


A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N.
Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16


Clinical exome sequencing in daily practice: 1,000 patients and beyond van Zelst-Stams WA, Scheffer H, Veltman JA.
Genome Med. 2014 Jan 24;6(1):2. [Epub ahead of print] No abstract available.


Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.
Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.


Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA Buysse K1, de Ligt J, Janssen IM, van Bon BW, Gomes I, Hehir-Kwa J, Eggink AJ, van Vugt JM, Vissers LE, Geurts van Kessel A, Faas BH
Prenat Diagn. 2014 Apr;34(4):402-5. doi: 10.1002/pd.4312. Epub 2014 Feb 6


NR2F1 mutations cause optic atrophy with intellectual disability Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP
Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23