Maries Joseph

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock, Sara Caylor, Bryce Waldman et al. · The American Journal of Human Genetics · 2021 · 238 citations · Full text

Project Baby Bear, Neonatology, Preventive Pediatrics +8

Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.

Maries Joseph, E S Cantú, G. Shashidhar Pai et al. · Journal of Medical Genetics · 1996 · 88 citations · Full text

Chromosome Xp22, Short Stature, Cytogenetics +19

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton, Cyril Mignot, Ashley Sigafoos et al. · Genetics in Medicine · 2019 · 35 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +9

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

G. Shashidhar Pai, Bernhard Häne, Maries Joseph et al. · Journal of Medical Genetics · 1997 · 30 citations · Full text

X‐linked myotubular myopathy: Clinical observations in ten additional cases

Maries Joseph, G. Shashidhar Pai, Kenton R. Holden et al. · American Journal of Medical Genetics · 1995 · 29 citations