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Paper Details

Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
30
2018
Atrophin-1 domain, CHARGE syndrome, CHD7, NEDBEH, RERE, RERE variants, amino, amino-acid, anomalies of the brain, eye, arginine-glutamic acid dipeptide, arginine-glutamic acid dipeptide repeats gene, congenital heart defects, haploinsufficiency, histidine, loss-of-function variants, neurodevelopmental disorder, renal anomalies, sensorineural hearing loss, structural eye defects, two-
Author NameAffiliation
Jessica GiordanoInstitute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center
Ronald J WapnerInstitute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center
John A BernatThe University of Iowa
John A BernatThe University of Iowa
Donna M MartinUniversity of Michigan Medical School ann arbor
Donna M MartinUniversity of Michigan Medical School ann arbor
Fernando ScagliaBaylor College of Medicine
Fernando ScagliaTexas Children's Hospital
Jennefer N KohlerStanford University School of Medicine
Jonathan A BernsteinStanford University School of Medicine
Annika M DriesStanford University School of Medicine
Yaping YangBaylor College of Medicine
Yaping Yang
Elliott H SherrUniversity of California san francisco
Weimin BiBaylor College of Medicine
Weimin Bi
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