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Roxanne Fischer | Researchclopedia

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Roxanne Fischer

National Institutes of Health

35

Works

1,842

Citations

22

h-index

25

i10-index

Research Topics

Genetic and Kidney Cyst Diseases Renal and related cancers Genetic Syndromes and Imprinting

Affiliations

National Institutes of Health1996–2020

National Human Genome Research Institute1996–2020

Medical Genetics Center2014–2014

National Institute on Population Medical Genetics2010–2010

National Institute of Allergy and Infectious Diseases1999–1999

Top Works

Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance

Christine E. Jackson,Roxanne Fischer,et al.

1999206 citations

Immune Cell Function and Interaction

melanin and skin pigmentation

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Meral Gunay‐Aygun,Esperanza Font–Montgomery,et al.

2012178 citations

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Jennifer M. Puck,Amy E. Pepper,et al.

1997160 citations

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Dimitre R. Simeonov,Xinjing Wang,et al.

2013132 citations

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Meral Gunay‐Aygun,Esperanza Font–Montgomery,et al.

2010128 citations

Hermansky–Pudlak syndrome: Mutation update

Marjan Huizing,May Christine V. Malicdan,et al.

2020111 citations

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Thomas C. Markello,Dong Chen,et al.

2014107 citations

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay‐Aygun,M. Tuchman,et al.

200998 citations

IL2RGbase: a database of γc-chain defects causing human X-SCID

Jennifer M. Puck,Geneviève de Saint Basile,et al.

199685 citations