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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.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
Pediatric Neurology|November 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Human Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.
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