Author details

Full Name

Corinne Boehm

Affiliation

Johns Hopkins University School of Medicine

ORCID

Career Start Year

1980

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
27759031	Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.	Eur J Hum Genet	2017
28905880	Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.	Eur J Hum Genet	2017
25684268	New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.	Hum Mutat	2015
26166479	The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.	Am J Hum Genet	2015
23378291	PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.	Hum Mutat	2013
18330858	Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.	Prenat Diagn	2008
17947463	Genome-wide allelotypes of familial pancreatic adenocarcinomas and familial and sporadic intraductal papillary mucinous neoplasms.	Clin Cancer Res	2007
15060121	Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.	J Med Genet	2004
12618379	The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.	Genome Res	2003
11748843	ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.	Hum Mutat	2001
11279660	A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans.	Am J Hematol	2001
10607725	Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.	Blood	2000
11017952	Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia.	Clin Chem	2000
10068516	Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.	Mol Genet Metab	1999
8659530	Cystic fibrosis carrier population screening in the primary care setting.	Am J Hum Genet	1996
8876210	Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis.	Proc Natl Acad Sci U S A	1996
8779321	Practical guide to the diagnosis of thalassemia. Council of Regional Networks for Genetic Services (CORN).	Am J Med Genet	1996
7599641	Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T.	Hum Mutat	1995
7920631	A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion.	Nat Genet	1994
8012350	Frequency and stability of the fragile X premutation.	Hum Mol Genet	1994
8411328	Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis.	J Ultrasound Med	1993
8517687	The effects of X monosomy on brain development: monozygotic twins discordant for Turner's syndrome.	Ann Neurol	1993
8488838	Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.	Am J Hum Genet	1993
1347082	Familial neurofibromatosis type 1: clinical experience with DNA testing.	J Pediatr	1992
1573747	Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.	JAMA	1992
1442890	Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy.	Am J Med Genet	1992
1679746	242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.	Genomics	1991
1892202	In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.	Am J Obstet Gynecol	1991
1367855	The molecular basis of genetic disease.	Curr Opin Biotechnol	1990
2222628	Alpha-thalassemia: prenatal diagnosis and neonatal implications.	Am J Perinatol	1990
1705403	Gene defects in beta-thalassemia and their prenatal diagnosis.	Ann N Y Acad Sci	1990
1967905	Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.	Am J Phys Anthropol	1990
1976985	Ethnic distribution of beta-thalassaemia in Indian subcontinent.	Lancet	1990
2615649	Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.	Mol Biol Med	1989
2570652	Use of polymerase chain reaction for diagnosis of inherited disorders.	Clin Chem	1989
2774428	Prenatal diagnosis of sickle cell anemia--1988.	Ann N Y Acad Sci	1989
2563349	A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.	Genomics	1989
2456798	Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.	Blood	1988
3405266	Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.	N Engl J Med	1988
3277252	Prenatal diagnosis and carrier detection by DNA analysis.	Prog Med Genet	1988
2906525	Identification of carriers of Duchenne muscular dystrophy: value of molecular analysis.	Am J Med Genet	1988
3048433	Molecular basis and prenatal diagnosis of beta-thalassemia.	Blood	1988
3006832	Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.	Blood	1986
17948565	Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill.	Am J Hum Genet	1986
3462712	On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.	Proc Natl Acad Sci U S A	1986
2873362	Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.	Lancet	1986
3107876	Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene.	Cold Spring Harb Symp Quant Biol	1986
3014870	Characterization of a spontaneous mutation to a beta-thalassemia allele.	Am J Hum Genet	1986
3014348	Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.	Nature	1986
2990302	Prenatal diagnosis of hemoglobinopathies by DNA analysis.	Ann N Y Acad Sci	1985

1 - 50 of 71

Laura M Kasch

Johns Hopkins School of Medicine

Career Start Year 1989

Number of shared co-authors 6

Lawrence C Brody

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1988

Number of shared co-authors 17

Sylvie Langlois

Research Center, Centre Hospitalier Universitaire Sainte-Justine

Career Start Year 1987

Number of shared co-authors 1

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 8

Hubert J M Smeets

Maastricht University Medical Centre+

Career Start Year 1987

Number of shared co-authors 1

Scott Grist

Australia College of Medicine and Public Health, Flinders University

Career Start Year 1987

Number of shared co-authors 1

Gert Matthijs

Center for Human Genetics, KU Leuven and University Hospitals Leuven

Career Start Year 1986

Number of shared co-authors 10

Fran??ois Rousseau

Universite Laval

Career Start Year 1986

Number of shared co-authors 0

Frances Flinter

Guys' and St Thomas' NHS Foundation Trust

Career Start Year 1986

Number of shared co-authors 1

Farid F Chehab

University of California san francisco

Career Start Year 1984

Number of shared co-authors 1

Nancy B Spinner

The Perelman School of Medicine at the University of Pennsylvania

Career Start Year 1984

Number of shared co-authors 9

David N Cooper

Institute of Medical Genetics, Cardiff University

Career Start Year 1983

Number of shared co-authors 13

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 11

Mario Pirastu

Institute of Genetic and Biomedical Research, National Research Council of Italy

Career Start Year 1981

Number of shared co-authors 4

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 7

Tom Vulliamy

Blizard Institute, Queen Mary University of London

Career Start Year 1981

Number of shared co-authors 1

Wayne W Grody

David Geffen School of Medicine, university of california los angeles

Career Start Year 1980

Number of shared co-authors 15

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 18

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 6

Vickie Hannig

Vanderbilt University Medical Center

Career Start Year 1978

Number of shared co-authors 3

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 1

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Career Start Year 1976

Number of shared co-authors 13

Mary-Claire King

University of Washington

Career Start Year 1975

Number of shared co-authors 15

Marco A Zago

Center for Cell-Based Therapy (CTC)

Career Start Year 1973

Number of shared co-authors 0

Norio Niikawa

Health Sciences University of Hokkaido

Career Start Year 1972

Number of shared co-authors 14

Jacques S Beckmann

University of Lausanne

Career Start Year 1970

Number of shared co-authors 10

Mark F Leppert

University of Utah

Career Start Year 1968

Number of shared co-authors 12

Arthur L Beaudet

Baylor College of Medicine

Career Start Year 1968

Number of shared co-authors 21

Robert Williamson

Murdoch Children's Research Institute

Career Start Year 1963

Number of shared co-authors 3

Laird G Jackson

The Children's Hospital of Philadelphia

Career Start Year 1961

Number of shared co-authors 4

row(s) 1 - 30 of 30

Stylianos E Antonarakis

Co-authored papers 18

Stuart H Orkin

Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School

Co-authored papers 7

Garry R Cutting

Johns Hopkins University School of Medicine

Co-authored papers 6

John A Phillips

Vanderbilt University Medical Center

Co-authored papers 5

Aravinda Chakravarti

New York University Grossman School of Medicine

Co-authored papers 5

Nara Sobreira

Johns Hopkins University

Co-authored papers 5

David Valle

Johns Hopkins School of Medicine

Co-authored papers 4

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 3

Alan F Scott

Johns Hopkins University School of Medicine

Co-authored papers 3

Louis M Kunkel

Boston Children's Hospital and Harvard Medical School

Co-authored papers 3

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Co-authored papers 2

Anthony P Monaco

Monash University

Co-authored papers 2

Fran??ois Schiettecatte

FS Consulting LLC

Co-authored papers 2

Gert-Jan B van Ommen

Co-authored papers 2

Philip D Witmer

Johns Hopkins Genomics, Johns Hopkins University

Co-authored papers 2

Julie Hoover-Fong

Johns Hopkins University

Co-authored papers 2

Vernon R Sutton

Baylor College of Medicine

Co-authored papers 2

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Co-authored papers 2

Johan T den Dunnen

Leiden University Medical Center

Co-authored papers 1

Tanya M Harrell

University of Washington.

Co-authored papers 1

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Co-authored papers 1

Holly K Tabor

Stanford Center for Biomedical Ethics (SCBE), Stanford University

Co-authored papers 1

Zeynep Coban Akdemir

Baylor College of Medicine

Co-authored papers 1

Deborah A Nickerson

University of Washington

Co-authored papers 1

Joshua D Smith

University of Washington

Co-authored papers 1

Wojciech Wiszniewski

Oregon Health & Sciences University

Co-authored papers 1

Margaret A Pericak-Vance

Co-authored papers 1

Francis S Collins

University of Michigan ann arbor

Co-authored papers 1

Richard P Lifton

The Rockefeller University

Co-authored papers 1

Randall K Saiki

Co-authored papers 1

1 - 30

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