Angela Barnicoat

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

Samantha J.L. Knight, A Flannery, Mark C. Hirst et al. · Cell · 1993 · 523 citations

Medicine, Genetics, Molecular Genetics +16

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 361 citations · Full text

Medicine, Genetics, Molecular Genetics +13

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

François Rousseau, Dominique Heitz, Jack Tarleton et al. · PubMed · 1994 · 294 citations

Life Sciences, Genetics, Molecular Genetics +17

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14