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American Journal of Medical Genetics. Part A|December 25, 2009
Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomalyHarvinder S Dod, Ravindra Bhardwaj, Marybeth Hummel, et al.American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, et al.American Journal of Human Genetics|January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.Pageof 2