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European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.American Journal of Human Genetics|January 9, 2008
Disruption of neurexin 1 associated with autism spectrum disorderHyung-Goo Kim, Shotaro Kishikawa, Anne W Higgins, et al.Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.Pageof 3