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American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|December 27, 2011
Comparing the clinical severity of the first versus second wave of 2009 Influenza A (H1N1) in a New York City pediatric healthcare facilityJ Scott Baird, Amanda Buet, Saul R Hymes, et al.
Genetic Counseling (Geneva, Switzerland)|April 7, 1999
The Philadelphia story: the 22q11.2 deletion: report on 250 patientsD M McDonald-McGinn, R Kirschner, E Goldmuntz, et al.
American Journal of Medical Genetics. Part A|September 14, 2023
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CABede N Nriagu, Lydia S Williams, Niambi Brewer, et al.
Plos One|November 17, 2022
Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart diseaseJ William Gaynor, Nancy B Burnham, Richard F Ittenbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Frontiers in Genetics|July 11, 2026
A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case reportDmitrijs Rots, Beatriz Cristina de Oliveira, Laura Machado Lara Carvalho, et al.
American Journal of Medical Genetics. Part A|June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
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