Roxanne Fischer

Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance

Christine E. Jackson, Roxanne Fischer, Amy P. Hsu et al. · The American Journal of Human Genetics · 1999 · 206 citations · Full text

Genotype Influences Penetrance, Autoimmune Disease, Autoantibody Production +7

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

Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose et al. · Gastroenterology · 2012 · 173 citations · Full text

Fibrosis, Hepatology, Medicine +9

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

Jennifer M. Puck, Amy E. Pepper, Paula S. Henthorn et al. · PubMed · 1997 · 160 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, Linda Lukose et al. · Clinical Journal of the American Society of Nephrology · 2010 · 127 citations · Full text

Hermansky–Pudlak syndrome: Mutation update

Marjan Huizing, May Christine V. Malicdan, Jennifer A. Wang et al. · Human Mutation · 2020 · 109 citations · Full text

Engineering, Genetics, Pathology +16