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American Journal of Medical Genetics. Part A|January 8, 2016
Muenke syndrome: An international multicenter natural history studyPaul Kruszka, Yonit A Addissie, Colin M P Yarnell, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trioDale L Bodian, Benjamin D Solomon, Alina Khromykh, et al.
Cell Genomics|August 7, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell typesLaura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Molecular Genetics and Metabolism|June 26, 2009
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyErich Roessler, Wuhong Pei, Maia V Ouspenskaia, et al.
Biorxiv : the Preprint Server for Biology|April 2, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell typesLaura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 25, 2011
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate geneBenjamin D Solomon, Daniel E Pineda-Alvarez, Donald W Hadley, et al.
Molecular Syndromology|January 7, 2016
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective CareAlina Khromykh, Benjamin D Solomon, Dale L Bodian, et al.
American Journal of Human Genetics|January 10, 2002
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisShih-hsin Kan, Navaratnam Elanko, David Johnson, et al.
Journal of Inherited Metabolic Disease|May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Familial Cancer|January 4, 2019
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated PolyposisErin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, et al.
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