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Cold Spring Harbor Molecular Case Studies|March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutationRonak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
The Journal of Pediatrics|June 23, 2014
Factors associated with neurodevelopment for children with single ventricle lesionsCaren S Goldberg, Minmin Lu, Lynn A Sleeper, et al.
The Journal of Thoracic and Cardiovascular Surgery|June 19, 2012
Risk factors for hospital morbidity and mortality after the Norwood procedure: A report from the Pediatric Heart Network Single Ventricle Reconstruction trialSarah Tabbutt, Nancy Ghanayem, Chitra Ravishankar, et al.
Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.
American Journal of Medical Genetics. Part A|August 8, 2022
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brainLaura Keehan, Isabel Haviland, Yoel Gofin, et al.
Plos Genetics|July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentiallyXi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
Circulation|March 30, 2012
Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trialJane W Newburger, Lynn A Sleeper, David C Bellinger, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingNathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
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