Author details

Full Name

Marjorie Withers

Affiliation

Baylor College of Medicine

ORCID

Career Start Year

1998

Papers

H Index

Expertise

CM4AI Collaborator

Nevan J Krogan (CM4AI)

PMID	Paper Title	Journal Title	Published Year
37711075	Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.	J Inherit Metab Dis	2023
33105479	NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.	Hum Mol Genet	2021
30827684	Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.	Cell	2019
31735666	Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.	Dev Cell	2019
28235197	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.	Cell	2017
26924530	DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.	Am J Hum Genet	2016
26378787	The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.	Genet Med	2016
27640307	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.	Am J Hum Genet	2016
25322266	Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.	J Clin Endocrinol Metab	2015
26641089	Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.	PLoS Genet	2015
26257172	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.	Cell Rep	2015
25672962	Bridging the gaps: An early integrated support collaborative for at risk mothers in rural Maine.	Work	2015
24766809	Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.	Cell	2014
25065914	The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.	Am J Hum Genet	2014
23161748	Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.	Hum Mol Genet	2013
23693093	Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor.	Biosens Bioelectron	2013
21514638	Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.	J Allergy Clin Immunol	2011
21964572	Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.	Nat Genet	2011
21901111	Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.	PLoS Genet	2011
21981782	Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.	Am J Hum Genet	2011
21925314	Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.	Cell	2011
20188345	Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.	Am J Hum Genet	2010
19236432	Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?	Clin Genet	2009
19136950	Increased LIS1 expression affects human and mouse brain development.	Nat Genet	2009
17357070	Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.	Am J Hum Genet	2007
17658953	Population bottlenecks as a potential major shaping force of human genome architecture.	PLoS Genet	2007
16770807	Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.	Am J Med Genet A	2006
15726498	Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.	Am J Hum Genet	2005
15148657	Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.	Am J Hum Genet	2004
15520286	Serial segmental duplications during primate evolution result in complex human genome architecture.	Genome Res	2004
12649807	Genome architecture catalyzes nonrecurrent chromosomal rearrangements.	Am J Hum Genet	2003
14639526	Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.	Am J Hum Genet	2003
10615134	Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.	Nat Genet	2000
10220471	Use of videophones and low-cost standard telephone lines to provide a social presence in telepsychiatry.	Telemed J	1998

1 - 34 of 34

Aren E Marshall

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2014

Number of shared co-authors 7

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 19

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 17

Malte Spielmann

Max Planck Institute for Molecular Genetics

Career Start Year 2005

Number of shared co-authors 6

Minjie Luo

Children's Hospital of Philadelphia

Career Start Year 2004

Number of shared co-authors 1

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 1

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Career Start Year 2003

Number of shared co-authors 7

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 8

Jan O Korbel

European Bioinformatics Institute (EMBL-EBI)

Career Start Year 2001

Number of shared co-authors 11

Caroline Astbury

Pathology and Laboratory Medicine Institute, Cleveland Clinic

Career Start Year 2001

Number of shared co-authors 2

Melanie Babcock

University of Pittsburgh School of Medicine.

Career Start Year 2000

Number of shared co-authors 2

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 8

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 10

Nicole de Leeuw

Radboud University Medical Center

Career Start Year 1996

Number of shared co-authors 6

Carl Baker

University of Washington School of Medicine

Career Start Year 1996

Number of shared co-authors 6

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 20

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 13

Christa Lese Martin

Autism and Developmental Medicine Institute

Career Start Year 1995

Number of shared co-authors 9

Andrew P Jackson

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 1994

Number of shared co-authors 12

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 15

Patrick S Tarpey

Wellcome Trust Sanger Institute

Career Start Year 1992

Number of shared co-authors 0

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 13

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 8

Laura K Conlin

Children's Hospital of Philadelphia

Career Start Year 1989

Number of shared co-authors 5

Michael J Bamshad

University of Washington

Career Start Year 1989

Number of shared co-authors 32

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 12

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 13

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 8

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Career Start Year 1976

Number of shared co-authors 12

Evan E Eichler

University of Washington

Career Start Year 1964

Number of shared co-authors 30

row(s) 1 - 30 of 30

James R Lupski

Baylor College of Medicine

Co-authored papers 32

Richard A Gibbs

Baylor College of Medicine

Co-authored papers 10

Shalini N Jhangiani

Baylor College of Medicine

Co-authored papers 9

Pengfei Liu

Co-authored papers 8

Donna M Muzny

Baylor College of Medicine

Co-authored papers 8

Feng Zhang

Obstetrics and Gynecology Hospital, Human Phenome Institute, Fudan University

Co-authored papers 6

Weimin Bi

Co-authored papers 5

Zeynep Coban Akdemir

Baylor College of Medicine

Co-authored papers 5

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Co-authored papers 5

Christine R Beck

University of Connecticut Health Center

Co-authored papers 4

Wojciech Wiszniewski

Oregon Health & Sciences University

Co-authored papers 3

Eric Boerwinkle

Baylor College of Medicine

Co-authored papers 3

Ken Chen

University of Texas MD Anderson Cancer Center

Co-authored papers 2

Zechen Chong

Heersink School of Medicine, University of Alabama at Birmingham

Co-authored papers 2

Hugo J Bellen

Baylor College of Medicine

Co-authored papers 2

Jennifer E Posey

Baylor College of Medicine

Co-authored papers 2

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 2

Nicholas Katsanis

Northwestern University

Co-authored papers 2

Sedat I????kay

Gaziantep University

Co-authored papers 2

Laurie B Griffin

University of Michigan ann arbor

Co-authored papers 1

Hatip Aydin

Zeynep Kamil Maternity and Children's Training and Research Hospital

Co-authored papers 1

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 1

Adam C English

Baylor College of Medicine Human Genome Sequencing Center

Co-authored papers 1

Markus Hafner

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Co-authored papers 1

Yaping Yang

Baylor College of Medicine

Co-authored papers 1

Nevan J Krogan (CM4AI)

University of California San Francisco

Co-authored papers 1

Donna M Martin

University of Michigan ann arbor

Co-authored papers 1

Harshavardhan Doddapaneni

Baylor College of Medicine

Co-authored papers 1

David C Schwartz

University of Wisconsin-Madison

Co-authored papers 1

Arthur L Beaudet

Baylor College of Medicine

Co-authored papers 1

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