David Tegay

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier et al. · Human Mutation · 2010 · 69 citations · Full text

Cleidocranial Dysplasia, Ccd Patients, Mendelian Disorder +13

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Claudia Gonzaga‐Jauregui, Gözde Yeşil, Harikiran Nistala et al. · European Journal of Human Genetics · 2020 · 37 citations · Full text

Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Stephen R. Williams, Santhosh Girirajan, David Tegay et al. · Journal of Medical Genetics · 2009 · 31 citations

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Norma P. Tavakoli, Dorota Gruber, Niki Armstrong et al. · Annals of Clinical and Translational Neurology · 2023 · 28 citations · Full text