Concepedia

K. Friend

KF

8

Publications

1.3K

Citations

8

H-Index

1992

Active since

Affiliations

Women's and Children's Hospital(Current)

The University of Adelaide

Hunter Genetics

K. Friend is an author at Women's and Children's Hospital specializing in genetics, medicine, and neurogenetics.

Top concepts

Publications per year

1992–2012

8

Publications

8

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 498 citations · Full text

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Karin Buiting, Bärbel Dittrich, Stephanie Groß et al. · The American Journal of Human Genetics · 1998 · 215 citations · Full text

, , +8

Evidence of founder chromosomes in fragile X syndrome

Robert I. Richards, Katherine Holman, K. Friend et al. · Nature Genetics · 1992 · 186 citations

, , +8

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter et al. · Orphanet Journal of Rare Diseases · 2012 · 153 citations · Full text

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication

Shuancang Yu, Kathleen H. Cox, K. Friend et al. · Clinical Genetics · 2007 · 112 citations

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