Author details

Full Name

Laird G Jackson

Affiliation

The Children's Hospital of Philadelphia

ORCID

Career Start Year

1961

Papers

167

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
30614194	Cornelia de Lange syndrome in diverse populations.	Am J Med Genet A	2019
27854359	Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.	Genet Med	2017
28609576	Prenatal diagnosis: Down syndrome or more?	Hum Mutat	2017
27120260	Characterization of limb differences in children with Cornelia de Lange Syndrome.	Am J Med Genet C Semin Med Genet	2016
27616633	Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.	Prenat Diagn	2016
27761919	Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.	Prenat Diagn	2016
27171546	Recommendations for the integration of genomics into clinical practice.	Genet Med	2016
25655089	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.	Hum Mutat	2015
24217912	The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.	Nucleic Acids Res	2014
24403048	Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.	Hum Mol Genet	2014
22955112	Women's experiences receiving abnormal prenatal chromosomal microarray testing results.	Genet Med	2013
22331816	Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.	Hum Mutat	2012
23215555	Chromosomal microarray versus karyotyping for prenatal diagnosis.	N Engl J Med	2012
22965847	Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.	Am J Med Genet A	2012
22740382	Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.	Am J Med Genet A	2012
22885700	HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.	Nature	2012
22470934	Detection of â¿¥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.	Prenat Diagn	2012
22581668	Germline mosaicism in Cornelia de Lange syndrome.	Am J Med Genet A	2012
22241092	NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.	Genet Med	2012
21228396	Molecular technologies open new clinical genetic vistas.	Sci Transl Med	2011
22069164	Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.	Am J Med Genet A	2011
21284236	Using the latest genome sequencing technologies to develop new carrier and prenatal genetic tests. Interview by Orla Smith.	Sci Transl Med	2011
21204208	The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.	Am J Med Genet A	2011
19884486	Detection of increased amounts of cell-free fetal DNA with short PCR amplicons.	Clin Chem	2010
20687900	Prenatal diagnosis of fetal aneuploidies: post-genomic developments.	Genome Med	2010
20448023	Genome-wide DNA methylation analysis in cohesin mutant human cell lines.	Nucleic Acids Res	2010
20466091	Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.	Am J Hum Genet	2010
20572096	A CVS start-up.	Prenat Diagn	2010
20583156	Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.	Am J Med Genet A	2010
19468298	Transcriptional dysregulation in NIPBL and cohesin mutant human cells.	PLoS Biol	2009
19701948	SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.	Hum Mutat	2009
19732005	Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies.	Expert Rev Mol Diagn	2009
18509949	Prenatal diagnosis. Preface.	Methods Mol Biol	2008
19003785	Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?	Prenat Diagn	2008
17508425	Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.	Am J Med Genet A	2007
17273969	Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.	Am J Hum Genet	2007
16606884	Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.	Arch Ophthalmol	2006
16792517	Psychosocial correlates of pregnant women's attitudes toward prenatal maternal serum screening and invasive diagnostic testing: beyond traditional risk status.	Genet Test	2006
15738029	Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia.	Obstet Gynecol	2005
16213388	Ophthalmologic findings in the Cornelia de Lange Syndrome.	J AAPOS	2005
15830503	[Late first-trimester invasive prenatal diagnosis--secondary publication. An international randomized trial].	Ugeskr Laeger	2005
15902108	Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.	Am J Obstet Gynecol	2005
16075459	Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.	Am J Med Genet A	2005
16100726	Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.	Am J Med Genet A	2005
15172848	Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.	Obstet Gynecol	2004
15284738	Automated detection of rare fetal cells in maternal blood: eliminating the false-positive XY signals in XX pregnancies.	Am J Obstet Gynecol	2004
15318302	NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.	Am J Hum Genet	2004
15458882	Sequential pathways of testing after first-trimester screening for trisomy 21.	Obstet Gynecol	2004
14764639	Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis.	Clin Chem	2004
15051035	The effect of the elapsed time between blood draw and processing on the recovery of fetal cells from maternal blood.	J Soc Gynecol Investig	2004

1 - 50 of 167

Isabel Filges

University Hospital Basel and University of Basel

Career Start Year 2002

Number of shared co-authors 5

Andreas Dufke

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

Career Start Year 2000

Number of shared co-authors 11

Jean Gekas

Laval University

Career Start Year 1997

Number of shared co-authors 0

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 10

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 20

Dominic J McMullan

Birmingham Women's and Children's NHS Foundation Trust

Career Start Year 1995

Number of shared co-authors 19

Anna Newlin

NorthShore University HealthSystem

Career Start Year 1990

Number of shared co-authors 1

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 6

Lyn S Chitty

UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust

Career Start Year 1989

Number of shared co-authors 15

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 37

Isabel K Temple

University of Southampton

Career Start Year 1988

Number of shared co-authors 29

Sylvie Langlois

Research Center, Centre Hospitalier Universitaire Sainte-Justine

Career Start Year 1987

Number of shared co-authors 6

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 16

Angela L Scioscia

University of California San Diego

Career Start Year 1986

Number of shared co-authors 2

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 18

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 9

Mira Irons

Children's Hospital Boston, Harvard Medical School

Career Start Year 1985

Number of shared co-authors 15

Angela E Lin

MassGeneral Hospital for Children

Career Start Year 1982

Number of shared co-authors 19

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 4

Wayne W Grody

David Geffen School of Medicine, university of california los angeles

Career Start Year 1980

Number of shared co-authors 14

Vickie Hannig

Vanderbilt University Medical Center

Career Start Year 1978

Number of shared co-authors 14

E V Davison

University of Newcastle upon Tyne.

Career Start Year 1978

Number of shared co-authors 15

Urvashi Surti

University of Pittsburgh

Career Start Year 1978

Number of shared co-authors 13

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 2

S??gol??ne Aym??

Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite

Career Start Year 1974

Number of shared co-authors 16

John A Phillips

Vanderbilt University Medical Center

Career Start Year 1974

Number of shared co-authors 16

Otto Sanchez

Ontario Tech University

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 8

Kenneth Rosenbaum

Rare Disease Institute, Children's National Hospital

Career Start Year 1971

Number of shared co-authors 12

Albert de la Chapelle

The Ohio State University Comprehensive Cancer Center

Career Start Year 1961

Number of shared co-authors 5

row(s) 1 - 30 of 30

Ronald J Wapner

Columbia University

Co-authored papers 32

Ian D Krantz

Children's Hospital of Philadelphia

Co-authored papers 25

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Co-authored papers 12

Nancy B Spinner

The Perelman School of Medicine at the University of Pennsylvania

Co-authored papers 7

Arthur L Beaudet

Baylor College of Medicine

Co-authored papers 4

David R FitzPatrick

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

Co-authored papers 4

Melanie Hullings

University of Texas Southwestern Medical Center

Co-authored papers 3

Christa Lese Martin

Autism and Developmental Medicine Institute

Co-authored papers 3

Morad Ansari

Western General Hospital

Co-authored papers 2

Cynthia C Morton

Co-authored papers 2

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Co-authored papers 2

James R Lupski

Baylor College of Medicine

Co-authored papers 2

Angelo Selicorni

Co-authored papers 2

Patricia Morgan

American College of Medical Genetics and Genomics

Co-authored papers 2

Maximilian Muenke

National Human Genome Research Institute, The National Institutes of Health

Co-authored papers 2

David T Miller

Boston Children's Hospital

Co-authored papers 2

Fuki M Hisama

University of Washington

Co-authored papers 2

Richard H Scott

Great Ormond Street Hospital

Co-authored papers 2

Rui Chen

Co-authored papers 2

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 2

Erin Rooney Riggs

Geisinger Autism & Developmental Medicine Institute

Co-authored papers 2

Arthur Weiss

University of California san francisco

Co-authored papers 2

Steven Van Vooren

Katholieke Universiteit Leuven

Co-authored papers 2

Barbara A Bernhardt

Thomas Jefferson University

Co-authored papers 2

Zornitza Stark

Murdoch Children's Research Institute

Co-authored papers 2

Sebastian Bauer

Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin

Co-authored papers 1

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Co-authored papers 1

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 1

Andrew D Mumford

University of Bristol

Co-authored papers 1

Caroline F Wright

University of Exeter, Royal Devon and Exeter Hospital

Co-authored papers 1

1 - 30

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