Roxanne Fischer

1.8k citations

21 papers · 984 indexed · h-index 17

Co-authors: Jennifer M. Puck William A. Gahl Marjan Huizing Amy P. Hsu May Christine V. Malicdan Meral Gunay‐Aygun Janet K. Dale Joy Bryant
Topics: Genetic and Kidney Cyst Diseases (8 papers)Genetic Syndromes and Imprinting (5 papers)Immunodeficiency and Autoimmune Disorders (4 papers)
Cited by: Immunology Genetics Cell Biology
Journals: Blood American Journal of Respiratory and Critical Care Medicine The American Journal of Human Genetics
Partner nations: United States Germany France

In The Last Decade

Roxanne Fischer

20 papers receiving 954 citations

Peers

Countries citing papers authored by Roxanne Fischer

Since Specialization

Citations

This map shows the geographic impact of Roxanne Fischer's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Roxanne Fischer with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Roxanne Fischer more than expected).

Fields of papers citing papers by Roxanne Fischer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Roxanne Fischer. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Roxanne Fischer. The network helps show where Roxanne Fischer may publish in the future.

Co-authorship network of co-authors of Roxanne Fischer

This figure shows the co-authorship network connecting the top 25 collaborators of Roxanne Fischer. A scholar is included among the top collaborators of Roxanne Fischer based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Roxanne Fischer. Roxanne Fischer is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency 2017 ·Human Genetics ·(unknown),Joshi Stephen,Thierry Vilboux,(unknown),(unknown),(unknown),(unknown),Dawn Maynard,Joy Bryant,Roxanne Fischer,Meghana Vemulapalli,James C. Mullikin,Marjan Huizing,William A. Gahl,May Christine V. Malicdan,Meral Gunay‐Aygun	26
2	Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants 2017 ·Human Genetics ·(unknown),Seth Berger,Carla Ciccone,(unknown),May Christine V. Malicdan,Thierry Vilboux,Charles J. Billington,Roxanne Fischer,Wendy J. Introne,Andrea Gropman,Jan Blancato,James C. Mullikin,William A. Gahl,Marjan Huizing,Ann C. M. Smith	18
3	Prospective Evaluation of Kidney Disease in Joubert Syndrome 2017 ·Clinical Journal of the American Society of Nephrology ·Leah Fleming,Daniel Doherty,Melissa A. Parisi,Ian A. Glass,Joy Bryant,Roxanne Fischer,Barış Türkbey,Peter L. Choyke,Kailash Daryanani,Meghana Vemulapalli,James C. Mullikin,May Christine V. Malicdan,Thierry Vilboux,John A. Sayer,William A. Gahl,Meral Gunay‐Aygun	49
4	CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency 2017 ·American Journal of Medical Genetics Part A ·Thierry Vilboux,May Christine V. Malicdan,Joseph C. Roney,Andrew R. Cullinane,Joshi Stephen,(unknown),Joy Bryant,Roxanne Fischer,Meghana Vemulapalli,James C. Mullikin,(unknown),Peter Steinbach,William A. Gahl,Meral Gunay‐Aygun	24
5	TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family 2016 ·Human Mutation ·(unknown),Joshi Stephen,May Christine V. Malicdan,(unknown),Roxanne Fischer,(unknown),(unknown),James C. Mullikin,William A. Gahl,Thierry Vilboux,Meral Gunay‐Aygun	13
6	Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes 2015 ·Journal of Medical Genetics ·May Christine V. Malicdan,Thierry Vilboux,Joshi Stephen,(unknown),(unknown),(unknown),(unknown),(unknown),Joy Bryant,Roxanne Fischer,Wadih M. Zein,Joseph Snow,Meghana Vemulapalli,James C. Mullikin,Camilo Toro,Benjamin D. Solomon,John E. Niederhuber,(unknown),William A. Gahl,Meral Gunay‐Aygun	35
7	Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome 2014 ·American Journal of Respiratory and Critical Care Medicine ·Aaron Trimble,Bernadette R. Gochuico,Thomas C. Markello,Roxanne Fischer,William A. Gahl,Jae K. Lee,Youngchul Kim,Marie D. Burdick,Robert M. Strieter,Borna Mehrad	28
8	Pregnancy in autosomal recessive polycystic kidney disease 2014 ·Archives of Gynecology and Obstetrics ·Nicole Banks,Joy Bryant,Roxanne Fischer,Marjan Huizing,William A. Gahl,Meral Gunay‐Aygun	9
9	DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics 2013 ·Human Mutation ·Dimitre R. Simeonov,Xinjing Wang,Chen Wang,Yuri V. Sergeev,Monika B. Dolinska,Matthew Bower,Roxanne Fischer,(unknown),Genia Dubrovsky,Joan Z. Balog,Marjan Huizing,(unknown),Wadih M. Zein,William A. Gahl,Brian P. Brooks,David R. Adams	102
10	Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I) 2010 ·American Journal of Medical Genetics Part A ·(unknown),Katie Piwnica–Worms,Joy Bryant,Isa Bernardini,Roxanne Fischer,Theo Heller,William A. Gahl,Meral Gunay‐Aygun	31
11	PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis 2009 ·Molecular Genetics and Metabolism ·Meral Gunay‐Aygun,M. Tuchman,Esperanza Font–Montgomery,(unknown),Hailey Edwards,(unknown),(unknown),Shira G. Ziegler,Katie Piwnica–Worms,Joy Bryant,Isa Bernardini,Roxanne Fischer,Marjan Huizing,Lisa M. Guay‐Woodford,William A. Gahl	66
12	Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria 2009 ·Human Mutation ·Thierry Vilboux,(unknown),Wendy J. Introne,Pim Suwannarat,Isa Bernardini,Roxanne Fischer,Kevin O’Brien,Robert Kleta,Marjan Huizing,William A. Gahl	56
13	Reduced Number of Dense Bodies and Reduced Serotonin Content in Platelets of Patients with Wiskott-Aldrich Syndrome. 2009 ·Blood ·Robert Sokolic,Thomas C. Markello,Marcy Krumwiede,Roxanne Fischer,Elizabeth Garabedian,William A. Gahl,James G. White,Fabio Candotti	0
14	Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome 2006 ·Human Genetics ·(unknown),Amy P. Hsu,(unknown),Lixin Zheng,Alejandro A. Schäffer,Janet K. Dale,Joie Davis,Roxanne Fischer,Stephen E. Straus,Donna Boruchov,Frank T. Saulsbury,Michael J. Lenardo,Jennifer M. Puck	44
15	HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia) 2005 ·Clinical Immunology ·(unknown),Alejandro A. Schäffer,Joie Davis,Roxanne Fischer,Janet K. Dale,Sharon Adams,Stephen E. Straus,Jennifer M. Puck	10
16	Efficient Detection of Thirty-Seven New IL2RG Mutations in Human X-Linked Severe Combined Immunodeficiency 2000 ·Clinical Immunology ·Julie E. Niemela,Jennifer M. Puck,Roxanne Fischer,Thomas A. Fleisher,Amy P. Hsu	24
17	Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation 1999 ·Genetics in Medicine ·Bodo Grimbacher,(unknown),Steven M. Holland,Roxanne Fischer,Maryland Pao,John I. Gallin,Jennifer M. Puck	25
18	Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance 1999 ·The American Journal of Human Genetics ·Christine E. Jackson,Roxanne Fischer,Amy P. Hsu,Stacie M. Anderson,Youngnim Choi,Jin Wang,Janet K. Dale,Thomas A. Fleisher,Lindsay Middelton,Michael C. Sneller,Michael J. Lenardo,Stephen E. Straus,Jennifer M. Puck	169
19	Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 1997 ·Blood ·Jennifer M. Puck,(unknown),Paula S. Henthorn,Fabio Candotti,(unknown),Todd Whitwam,Mary Ellen Conley,Roxanne Fischer,Howard M. Rosenblatt,Trudy N. Small,Rebecca H. Buckley	115
20	IL2RGbase: a database of γc-chain defects causing human X-SCID 1996 ·Immunology Today ·Jennifer M. Puck,Geneviève de Saint Basile,Klaus Schwarz,Sebastian D. Fugmann,Roxanne Fischer	58

About Roxanne Fischer

Roxanne Fischer is a scholar working on Genetics, Immunology and Emergency Medical Services, having authored 21 papers that have together received 984 indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (8 papers), Genetic Syndromes and Imprinting (5 papers) and Immunodeficiency and Autoimmune Disorders (4 papers). The work is most often cited by research in Immunology (368 citations), Genetics (330 citations) and Cell Biology (169 citations). Roxanne Fischer has collaborated with scholars based in United States, Germany and France. Frequent co-authors include Jennifer M. Puck, William A. Gahl, Marjan Huizing, Amy P. Hsu, May Christine V. Malicdan, Meral Gunay‐Aygun, Janet K. Dale, Joy Bryant, Stephen E. Straus and Thierry Vilboux. Their work appears in journals such as Blood, American Journal of Respiratory and Critical Care Medicine and The American Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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