A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Autor: Rolph Pfundt, Bregje W.M. van Bon, Petra de Vries, Carl Baker, Marloes Steehouwer, Bradley P. Coe, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Han G. Brunner, David A. Koolen, Caroline Nava, Daniëlle G. M. Bosch, Anna Hackett, Hilde Van Esch, Fleur Vansenne, Alexander Hoischen, Christian Gilissen, Kali Witherspoon, Heather C Mefford, Martin Jakob Larsen, Janneke H M Schuurs-Hoeijmakers, Malin Kvarnung, Gemma L. Carvill, Bert B.A. de Vries, Fiona Haslam McKenzie, Maartje van de Vorst, Mirella Vinci, Jozef Gecz, Carlo Marcelis, Sandra Jansen, Marijke Bauters, Raphael Bernier, Joris A. Veltman, Corrado Romano, Evan E. Eichler, Ulla A Andersen, Hedi L Claahsen-van der Grinten, Connie T.R.M. Stumpel, Lucia Grillo, Marie Lorraine Monin, Servi J. C. Stevens

Publikováno v: European Journal of Human Genetics, 26(1), 54. Nature Publishing Group
European Journal of Human Genetics, 26(1), 54-63. Nature Publishing Group
European Journal of Human Genetics, 26, 54-63
European Journal of Human Genetics, 26, 1, pp. 54-63
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5

Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40caced28f86c97b1448dfa2a27ded01
https://hdl.handle.net/2066/183753

The contribution of de novo coding mutations to autism spectrum disorder

Autor: Stephen Sanders, Deborah A. Nickerson, Michael Ronemus, Luis E. Gonzalez, Michael F. Walker, Kali Witherspoon, Shan Dong, Niklas Krumm, Jeffrey D. Mandell, Catherine A.W. Sullivan, Laura Vives, Giuseppe Narzisi, Boris Yamrom, Brian J. O'Roak, A. Jeremy Willsey, Jude Kendall, Jay Shendure, Karynne E. Patterson, Ewa A. Grabowska, Jeanselle Dea, Ivan Iossifov, Michael Wigler, Inessa Hakker, Michael C. Schatz, Dan Levy, Ertugrul Dalkic, Zainulabedin Waqar, Bryan W. Paeper, Beicong Ma, Jennifer Troge, Kenny Ye, Matthew W. State, Anthony Leotta, Peter Andrews, Linda Rodgers, Zihua Wang, Yoon-ha Lee, Holly A.F. Stessman, Seungtai Yoon, Evan E. Eichler, Joshua D. Smith, Steven Marks, Michael T. Murtha, Julie Rosenbaum, Liping Wei, Shrikant Mane, W. Richard McCombie

Publikováno v: Nature. 515:216-221

Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b4fb8edeee729b043d00cb95f963117
https://doi.org/10.1038/nature13908

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

Autor: Raphael Bernier, Evan A. Boyle, Jay Shendure, Kali Witherspoon, Joseph B. Hiatt, Craig M. Lee, Brian J. O'Roak, Carl Baker, Laura Vives, Evan E. Eichler, Benjamin L. Martin, Deborah A. Nickerson, Holly A.F. Stessman

Publikováno v: Nature communications

Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1152f8d85e8c994239fa823fb422ba2f
https://pubmed.ncbi.nlm.nih.gov/25418537

Disruptive CHD8 mutations define a subtype of autism early in development

Autor: Pinella Failla, Christelle Golzio, Nicholas Katsanis, Ed S. Lein, Kali Witherspoon, Heather C Mefford, Marco Fichera, Jill A. Rosenfeld, David G. Amaral, Jennifer Gerdts, Hilde Peeters, Janneke H M Schuurs-Hoeijmakers, Raphael Bernier, Carl Baker, Ludmila Francescatto, Serafino Buono, Corrado Romano, Brian J. O'Roak, Julia Rankin, Matthew R. Pawlus, Trygve E. Bakken, Bradley P. Coe, Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Randall T. Moon, Evan E. Eichler, Bo Xiong, Lisenka E.L.M. Vissers, Osnat Penn, Holly A.F. Stessman, Antonino Alberti, Jay Shendure, Paolo Bosco, Jean Steyaert

Publikováno v: Cell, pp. 263-76
Cell, 263-76
STARTPAGE=263;ENDPAGE=76;ISSN=0092-8674;TITLE=Cell

SummaryAutism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0699737dab20e22ea8f442361cd8d217
https://doi.org/10.1016/j.cell.2014.06.017