May Tassabehji

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

May Tassabehji, Andrew Read, Valerie Newton et al. · Nature Genetics · 1993 · 228 citations

Pax3 Gene, Disease Mechanism, Genetic Disorder +8

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

GTF2IRD1 in Craniofacial Development of Humans and Mice

May Tassabehji, Peter Hammond, Annette Karmiloff‐Smith et al. · Science · 2005 · 201 citations

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji, Zhi Fang, Emma Hilton et al. · Human Mutation · 2008 · 198 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12