Sue M. White

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Karen W. Gripp, Lindsey A. Morse, Marni E. Axelrad et al. · American Journal of Medical Genetics Part A · 2019 · 122 citations · Full text

Autoimmune Disease, Disease Mechanism, Expert Opinion +11

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text

Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds

Jo K. Perry, Sue M. White, Sara Nouri et al. · American Journal of Medical Genetics Part A · 2005 · 70 citations

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Chloe Stutterd, George McGillivray, Zornitza Stark et al. · European Journal of Medical Genetics · 2018 · 20 citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +9

No mutation in genes of the WNT signaling pathway in patients with Zimmermann–Laband syndrome

Benjamin Abo‐Dalo, Melanie Roes, Sonia Canún et al. · Clinical Dysmorphology · 2008 · 13 citations

Literary Theory, Genetics, Pathology +17