K. Friend - Concepedia

Concepedia

Author

K. Friend

Women's and Children's Hospital

Also Known As

K Friend, K. FRIEND, K. Friend, Kathie Friend, Kathie L Friend, Kathie L. Friend

13

Publications

1.3K

Citations

8

H-Index

27

Concepts

All Affiliations

Women's and Children's Hospital The University of Adelaide Hunter Genetics

KF

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	921
2	Natural Sciences	1	1	22
3	Social Sciences	1	1	498
4	Molecular Genetics	1	1	186
5	Neuroscience	1	1	498

K. Friend

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8

Publications

1.3K

Citations

8

H-Index

	Year	Citations
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation Linda S. Weaving, John Christodoulou, Sarah Williamson, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyGenetic DisorderGeneticsNeurodevelopment	2004	498
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, The American Journal of Human Genetics Developmental AnomalyGenetic DisorderGeneticsSporadic Imprinting DefectsGynecology	1998	215
Evidence of founder chromosomes in fragile X syndrome Robert I. Richards, Katherine Holman, K. Friend, Nature Genetics ChromatinCytogeneticsGenetic DisorderGeneticsFragile X Spectrum	1992	186
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, Orphanet Journal of Rare Diseases	2012	153
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, Clinical Genetics	2007	112
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus Tracy Dudding, K. Friend, Peter W. Schofield, Neurology	2004	94
CAG Repeat Expansion in Autosomal Dominant Familial Spastic Paraparesis: Novel Expansion in a Subset of Patients Kathleen F. Benson, Marshall S. Horwitz, John Wolff, Human Molecular Genetics	1998	27
Dynamic mutation loci: allele distributions in different populations Robert I. Richards, Joanna Crawford, Kouji Narahara, Annals of Human Genetics Genome InstabilityDynamic Mutation LociFra16a LocusLinkage DisequilibriumMolecular Ecology	1996	22

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