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Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.Nature Communications|December 30, 2025
Stress induces oxytocin-Gαi-dependent remodeling of astrocytes to shape neuronal response in the amygdalaAngel Baudon, Valentin Grelot, Kai-Yi Wang, et al.American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.Molecular Psychiatry|November 2, 2019
Mutations in ASH1L confer susceptibility to Tourette syndromeShiguo Liu, Miaomiao Tian, Fan He, et al.Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.Pageof 23