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

por Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.
Publicado 2020

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

por Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Publicado 2016

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

por 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
Publicado 2020

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

por Oud, M S, Houston, B J, Volozonoka, L, Mastrorosa, F K, Holt, G S, Alobaidi, B K S, deVries, P F, Astuti, G, Ramos, L, Mclachlan, R I, O’Bryan, M K, Veltman, J A, Chemes, H E, Sheth, H
Publicado 2021

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

por 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.
Publicado 2007

De novo mutations in children born after medical assisted reproduction

por Smits, R M, Xavier, M J, Oud, M S, Astuti, G D N, Meijerink, A M, de Vries, P F, Holt, G S, Alobaidi, B K S, Batty, L E, Khazeeva, G, Sablauskas, K, Vissers, L E L M, Gilissen, C, Fleischer, K, Braat, D D M, Ramos, L, Veltman, J A
Publicado 2022

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

por 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
Publicado 2016

A de novo paradigm for male infertility

por Oud, M. S., Smits, R. M., Smith, H. E., Mastrorosa, F. K., Holt, G. S., Houston, B. J., de Vries, P. F., Alobaidi, B. K. S., Batty, L. E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G. D. N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D. D. M., Fleischer, K., D’Hauwers, K. W. M., Schaafsma, E., Nagirnaja, L., Conrad, D. F., Friedrich, C., Kliesch, S., Aston, K. I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L. E. L. M., Tüttelmann, F., O’Bryan, M. K., Ramos, L., Xavier, M. J., van der Heijden, G. W., Veltman, J. A.
Publicado 2022