Anne Hing

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Elena Belloni, Maximilian Muenke, Erich Roessler et al. · Nature Genetics · 1996 · 644 citations

Knockout Mouse, Developmental Biology, Genetics +5

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 239 citations · Full text

Recurrent 200-Kb Deletions, Developmental Biology, Sh2b1 Gene +11

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 227 citations · Full text

Long-read Sequencing, Long-read Sequencing Identifies, Next-generation Sequencing +4

Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper et al. · The American Journal of Human Genetics · 2009 · 212 citations · Full text

Overt Cleft Lip, Developmental Biology, Genetic Disorder +12

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan et al. · Nature Genetics · 2008 · 195 citations

Somatic Variant, Cancer Pathology, Mendelian Disorder +9