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Author Details

Roxanne Fischer
National Human Genome Research Institute, National Institutes of Health
1993
30
21
PMIDPaper TitleJournal TitlePublished Year
28052552CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.Am J Med Genet A2017
28220259Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.Hum Genet2017
28213671Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.Hum Genet2017
29146704Prospective Evaluation of Kidney Disease in Joubert Syndrome.Clin J Am Soc Nephrol2017
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
27095636Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.J Med Genet2016
27449316TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.Hum Mutat2016
25214022Pregnancy in autosomal recessive polycystic kidney disease.Arch Gynecol Obstet2015
26386044Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.J Med Genet2015
25577287York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.Mol Genet Metab2015
25347450Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.Am J Respir Crit Care Med2014
23041322Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.Gastroenterology2013
23504663DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Hum Mutat2013
19914852PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.Mol Genet Metab2010
20818665Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).Am J Med Genet A2010
20413436Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.Clin J Am Soc Nephrol2010
19862842Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.Hum Mutat2009
16257267HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).Clin Immunol2006
16446975Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.Hum Genet2006
11418480The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.Blood2001
10794430Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.Clin Immunol2000
10709781Kinetics of cellular and cytokine responses in a chimeric mouse model for the study of staphylococcal enterotoxin B pathogenesis.Immunol Lett2000
10090885Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.Am J Hum Genet1999
11256675Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.Genet Med1999
9058718Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.Blood1997
9170216Serum-free culture conditions for cells capable of producing long-term survival in lethally irradiated mice.Stem Cells1997
7506673Mast cell growth factor enhances multilineage hematopoietic recovery in vivo following radiation-induced aplasia.Exp Hematol1994
7520725Mast cell growth factor (C-kit ligand) in combination with granulocyte-macrophage colony-stimulating factor and interleukin-3: in vivo hemopoietic effects in irradiated mice compared to in vitro effects.Biotherapy1993
7687891Purification and characterization of heterogeneous pluripotent hematopoietic stem cell populations expressing high levels of c-kit receptor.Blood1993
7678816Effects of combined administration of interleukin-6 and granulocyte colony-stimulating factor on recovery from radiation-induced hemopoietic aplasia.Exp Hematol1993
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Collaborators

National Human Genome Research Institute, National Institutes of Health
Co-authored papers 17
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 8
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
National Institutes of Health
Co-authored papers 3
National Cancer Institute, National Institutes of Health
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
National Cancer Institute, National Institutes of Health
Co-authored papers 3
National Institutes of Health
Co-authored papers 3
National Institute of Diabetes and Digestive and Kidney Diseases
Co-authored papers 2
National Institutes of Health
Co-authored papers 2
University of British Columbia
Co-authored papers 2
National Cancer Institute, National Institutes of Health
Co-authored papers 2
Boston University School of Public Health
Co-authored papers 2
Co-authored papers 2
University of California San Francisco
Co-authored papers 2
University of Pennsylvania - Perelman School of Medicine
Co-authored papers 2
National Institutes of Health
Co-authored papers 2
The Genome Institute, Washington University in St. Louis
Co-authored papers 1
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Center for Cancer Research, National Cancer Institute, National Institutes of Health
Co-authored papers 1
University of Miami Miller School of Medicine
Co-authored papers 1
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Co-authored papers 1
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 1
Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Co-authored papers 1
Co-authored papers 1
University of Pretoria
Co-authored papers 1
NIH and National Human Genome Research Institute
Co-authored papers 1
Co-authored papers 1