Author details

Full Name

Catherine Groden

Affiliation

National Institutes of Health Intramural Research Program

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36181424	Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.	Brain	2023
32753397	A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.	Br J Ophthalmol	2021
34277935	PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.	Neurol Genet	2021
34089226	Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.	Am J Med Genet A	2021
33097395	Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.	Mol Genet Metab	2020
32030791	Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.	Ann Neurol	2020
31785030	Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.	Mov Disord	2020
30385646	Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.	J Med Genet	2019
31500578	Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.	BMC Nephrol	2019
30824121	Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.	Am J Hum Genet	2019
29789193	Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.	Mol Genet Metab	2018
29892709	Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.	Neurol Genet	2018
27429304	Peripheral nervous system manifestations of Chediak-Higashi disease.	Muscle Nerve	2017
28193763	Neurologic involvement in patients with atypical Chediak-Higashi disease.	Neurology	2017
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
26944273	Neurologic involvement in patients with atypical Chediak-Higashi disease.	Neurology	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27123476	Clinical course and prognosis in patients with Gaucher disease and parkinsonism.	Neurol Genet	2016
26857895	Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.	Am J Med Genet A	2016
25435509	The clinical management of Type 2 Gaucher disease.	Mol Genet Metab	2015
24784157	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.	Genet Med	2014
23968566	Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.	Pediatr Neurol	2013
22237431	The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.	Genet Med	2012
22843412	The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.	Brain	2012
20971977	Suppression of inflammation in ulcerative colitis by interferon-Î²-1a is accompanied by inhibition of IL-13 production.	Gut	2011
21935720	Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.	Skeletal Radiol	2011
21288095	NT5E mutations and arterial calcifications.	N Engl J Med	2011
19094118	Successful granulocyte-colony stimulating factor treatment of Crohn's disease is associated with the appearance of circulating interleukin-10-producing T cells and increased lamina propria plasmacytoid dendritic cells.	Clin Exp Immunol	2009
19136110	Multiple endoscopic biopsies in research subjects: safety results from a National Institutes of Health series.	Gastrointest Endosc	2009
16374252	Both IL-12p70 and IL-23 are synthesized during active Crohn's disease and are down-regulated by treatment with anti-IL-12 p40 monoclonal antibody.	Inflamm Bowel Dis	2006
16952544	Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency.	Gastroenterology	2006
15537905	Anti-interleukin-12 antibody for active Crohn's disease.	N Engl J Med	2004

1 - 32 of 32

Susan Byrne

Royal College of Surgeons in Ireland

Career Start Year 2010

Number of shared co-authors 0

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 6

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 2

Tawfeg Ben-Omran

Hamad Medical Corporation.

Career Start Year 2005

Number of shared co-authors 5

Saskia Biskup

Center for Genomics and Transcriptomics (CeGaT)

Career Start Year 2004

Number of shared co-authors 4

B??lent Kara

Kocaeli University Faculty of Medicine

Career Start Year 2003

Number of shared co-authors 0

Jennifer L Goldstein

University of North Carolina at Chapel Hill

Career Start Year 2003

Number of shared co-authors 1

John A Bernat

University of Iowa Hospitals and Clinics

Career Start Year 2002

Number of shared co-authors 0

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 0

Francisco A Perez

Seattle Children's Hospital

Career Start Year 2000

Number of shared co-authors 0

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 6

Mary Kay Koenig

The University of Texas McGovern Medical School

Career Start Year 1999

Number of shared co-authors 3

Hugh J McMillan

Montreal Children's Hospital, McGill University

Career Start Year 1997

Number of shared co-authors 3

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 1

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 18

Andrea H N??meth

University of Oxford

Career Start Year 1993

Number of shared co-authors 4

Peter Hedera

University of Louisville

Career Start Year 1992

Number of shared co-authors 1

Henry Houlden

Institute of Neurology, University College London (UCL)

Career Start Year 1991

Number of shared co-authors 8

Annette Feigenbaum

Rady Children's Hospital and The University of California

Career Start Year 1990

Number of shared co-authors 2

Dina J Zand

Center for Drug Evaluation and Research

Career Start Year 1989

Number of shared co-authors 2

Gregory M Enns

Lucile Packard Children's Hospital and Stanford University

Career Start Year 1988

Number of shared co-authors 6

Dong-Hui Chen

University of Washington School of Medicine

Career Start Year 1988

Number of shared co-authors 0

Nicholas W Wood

UCL Queen Square Institute of Neurology

Career Start Year 1988

Number of shared co-authors 7

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 6

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 6

Enrico Bertini

IRCCS Bambino Gesu Children's Research Hospital

Career Start Year 1978

Number of shared co-authors 3

David J Burn

Population Health Sciences Institute, Newcastle University

Career Start Year 1975

Number of shared co-authors 5

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 10

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 7

Thomas D Bird

University of Washington School of Medicine

Career Start Year 1965

Number of shared co-authors 0

row(s) 1 - 30 of 30

William A Gahl