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Roxanne E. Fischer

Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance
1999 · Christine E. Jackson, Roxanne E. Fischer, et al. · The American Journal of Human Genetics · 209
Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease
2012 · Meral Gunay–Aygun, Esperanza Font–Montgomery, et al. · Gastroenterology · 182
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
1997 · J M Puck, A E Pepper, et al. · PubMed · 158
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics
2013 · Dimitre R. Simeonov, Xinjing Wang, et al. · Human Mutation · 131
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Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease
2010 · Meral Gunay-Aygun, Esperanza Font-Montgomery, et al. · Clinical Journal of the American Society of Nephrology · 125
Hermansky–Pudlak syndrome: Mutation update
2020 · Marjan Huizing, May C. V. Malicdan, et al. · Human Mutation · 116
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York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
2014 · Thomas Markello, Dong Chen, et al. · Molecular Genetics and Metabolism · 113
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
2009 · Meral Gunay-Aygun, Maya Tuchman, et al. · Molecular Genetics and Metabolism · 101
Mutation spectrum of homogentisic acid oxidase ( HGD ) in alkaptonuria
2009 · Thierry Vilboux, Michael Kayser, et al. · Human Mutation · 88
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IL2RGbase: a database of γc-chain defects causing human X-SCID
1996 · Jennifer M. Puck, Geneviève de Saint Basile, et al. · Immunology Today · 87
Prospective Evaluation of Kidney Disease in Joubert Syndrome
2017 · Leah R. Fleming, Daniel A. Doherty, et al. · Clinical Journal of the American Society of Nephrology · 75
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome
2006 · Shigui Zhu, Amy P. Hsu, et al. · Human Genetics · 70
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
2015 · May Christine V Malicdan, Thierry Vilboux, et al. · Journal of Medical Genetics · 54
Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)
2010 · Shilpa Chetty‐John, Katie Piwnica‐Worms, et al. · American Journal of Medical Genetics Part A · 39
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
2017 · Thierry Vilboux, May Christine V. Malicdan, et al. · American Journal of Medical Genetics Part A · 37
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome
2014 · Aaron Trimble, Bernadette R. Gochuico, et al. · American Journal of Respiratory and Critical Care Medicine · 37
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
2017 · NISC Comparative Sequencing Program, Joshi Stephen, et al. · Human Genetics · 35
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation
1999 · Bodo Grimbacher, Amalia S. Dutra, et al. · Genetics in Medicine · 35
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
2016 · Thierry Vilboux, May Christine V Malicdan, et al. · Journal of Medical Genetics · 33
Efficient Detection of Thirty-Seven New IL2RG Mutations in Human X-Linked Severe Combined Immunodeficiency
2000 · Julie E. Niemela, Jennifer M. Puck, et al. · Clinical Immunology · 31
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
2017 · Timothy Gall, Elise Valkanas, et al. · Frontiers in Medicine · 30
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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
2017 · NISC Comparative Sequencing Program, Seth I. Berger, et al. · Human Genetics · 29
TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family
2016 · Dino Maglic, Joshi Stephen, et al. · Human Mutation · 16
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Pregnancy in autosomal recessive polycystic kidney disease
2014 · Nicole Banks, Joy Bryant, et al. · Archives of Gynecology and Obstetrics · 13
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)
2005 · Marla M. Vacek, Alejandro A. Schäffer, et al. · Clinical Immunology · 13
Works count: 33
Citation count: 1,876
H-index: 22
I10-index: 26
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