Lynne M. Bird

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, Yair Hanani, Omri Bar et al. · Nature Medicine · 2018 · 698 citations

Genetics, Facial Recognition System, Deep Learning

X-linked situs abnormalities result from mutations in ZIC3

Marinella Gebbia, Giovanni Battista Ferrero, Giuseppe Pilia et al. · Nature Genetics · 1997 · 416 citations

Somatic Variant, Genetic Disorder, Medicine +4

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Alan F. Rope, Kai Wang, Rune Evjenth et al. · The American Journal of Human Genetics · 2011 · 256 citations · Full text

Developmental Biology, N-terminal Acetyltransferase Deficiency, Mendelian Disorder +9

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

Kyla Omilusik, J. Adam Best, Bingfei Yu et al. · The Journal of Experimental Medicine · 2015 · 248 citations · Full text

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

David Dimmock, Michelle M. Clark, Mary Gaughran et al. · The American Journal of Human Genetics · 2020 · 180 citations · Full text

Sequencing, Neonatology, Newborn Screening +10