F Ryan

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Michael R. Bowl, Samantha Mirczuk, I. V. Grigorieva et al. · Human Molecular Genetics · 2010 · 50 citations

Gcmb/dna Binding Interface, Gcmb Dna-binding Domain, Genetics +18

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

Dominick J. H. McCabe, F Ryan, David P. Moore et al. · Journal of Neurology · 2000 · 43 citations · Full text

Typical Friedreich, Applied Physics, Gaa Expansions +1

SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal Canal

Kyriaki S. Alatzoglou, A. Azriyanti, Nicholas Rogers et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 41 citations · Full text

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).

R. Stallings, David J. Vaughn, Kat Hall et al. · Journal of Medical Genetics · 1997 · 12 citations · Full text

Karyotype Imaging, Chromatin, Developmental Anomaly +14