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by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 995 - 1007
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 305 - 316
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations.... 
neurodevelopmental disorder | FBXO11 | intellectual disability | INTELLECTUAL-DISABILITY | GENE | UBIQUITIN LIGASE | OTITIS-MEDIA | PATHWAY | GROWTH | GENETICS & HEREDITY | HUMANS | MUTATIONS | PROMOTES | FAMILY | Physiological aspects | Care and treatment | Genetic aspects | Research | Genetic variation | Mental retardation | Life Sciences | Genetics | Human genetics | Report
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1486 - 1486
In the published version of this article, the name of the 18th author was misspelled as Minjie Lou. The correct name is Minjie Luo. The authors regret the... 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1298 - 1298
In the published version of this article, the degree of author Bo Zhang was incorrectly listed as PhD. The correct degree is BS. 
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2016, Volume 11, Issue 1, pp. 1 - 7
We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss,... 
ARID | Hypotonia | NGS | Microcephaly | Hearing loss | MEDICINE, RESEARCH & EXPERIMENTAL | PEX1 | PROTEIN STRUCTURES | SPASTIC PARAPLEGIA | FAMILIES | GENETICS & HEREDITY | PEROXISOME BIOGENESIS DISORDERS | LOOPS | Symptomatology | Gene mutations | Analysis | Genetic aspects | Research | Mental retardation | Risk factors
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e85136
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, p. 507
  Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome... 
Genotype & phenotype | Genomics | Learning disabilities | Mutation
Journal Article