Disease gene discovery in male infertility: past, present and future

gan Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.
Cyhoeddwyd yn Hum Genet (2020)

Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the MAPT H2 Haplotype

gan Rao, P.N., Li, W., Vissers, L.E.L.M., Veltman, J.A., Ophoff, R.A.
Cyhoeddwyd 2010

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

gan Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Cyhoeddwyd yn J Genet Couns (2016)

Lack of evidence for a role of PIWIL1 variants in human male infertility

gan Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.
Cyhoeddwyd yn Cell (2021)

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

gan Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A
Cyhoeddwyd yn Hum Reprod (2020)

Periventricular Heterotopia in Common Microdeletion Syndromes

gan van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.
Cyhoeddwyd 2010

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

gan Vissers, L. E. L. M., Stankiewicz, P., Yatsenko, S. A., Crawford, E., Creswick, H., Proud, V. K., de Vries, B. B. A., Pfundt, R., Marcelis, C. L. M., Zackowski, J., Bi, W., van Kessel, A. Geurts, Lupski, J. R., Veltman, J. A.
Cyhoeddwyd 2007

Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH

gan Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander‐Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G
Cyhoeddwyd 2006

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

gan Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, van Kessel, A Geurts, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Cyhoeddwyd 2006

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

gan Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H, Riazuddin, S
Cyhoeddwyd yn Mol Psychiatry (2016)

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

gan Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D., Carss, K., Raymond, F. L., O’Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H., Riazuddin, S.
Cyhoeddwyd yn Mol Psychiatry (2018)

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

gan Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Aa, N Van der, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A
Cyhoeddwyd 2008