Publications by authors named "Laird G Jackson"

35Publications

Prenatal diagnosis: Down syndrome or more?

Authors:
Laird G Jackson

Hum Mutat 2017 07;38(7):749

Drexel University College of Medicine, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23242DOI Listing
July 2017

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 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Am J Med Genet A 2012 Aug 27;158A(8):1848-56. Epub 2012 Jun 27.

Division of Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania 19104-4318, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35410
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http://dx.doi.org/10.1002/ajmg.a.35410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402646PMC
August 2012

Germline mosaicism in Cornelia de Lange syndrome.

Am J Med Genet A 2012 Jun 11;158A(6):1481-5. Epub 2012 May 11.

Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland, Case Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.35381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356507PMC
June 2012

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Am J Med Genet A 2011 Jan 10;155A(1):33-7. Epub 2010 Dec 10.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.

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http://dx.doi.org/10.1002/ajmg.a.33631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058755PMC
January 2011

Prenatal diagnosis of fetal aneuploidies: post-genomic developments.

Genome Med 2010 Aug 5;2(8):50. Epub 2010 Aug 5.

Department of Biomedicine, University Women's Hospital, University Clinics Basel, Hebelstrasse 20, CH-4031, Switzerland.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm1
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http://dx.doi.org/10.1186/gm171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945007PMC
August 2010

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

A CVS start-up.

Authors:
Laird G Jackson

Prenat Diagn 2010 Jul;30(7):611-2

Department of Obstetrics and Gynecology, Drexel University College of Medicine, MS-495, Philadelphia, PA 19102-1192, USA.

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http://dx.doi.org/10.1002/pd.2459DOI Listing
July 2010

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.

Nucleic Acids Res 2010 Sep 6;38(17):5657-71. Epub 2010 May 6.

Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/nar/gkq346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943628PMC
September 2010

Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies.

Expert Rev Mol Diagn 2009 Sep;9(6):613-21

University Women's Hospital/Department of Biomedicine, Hebelstrasse 20, CH 4031 Basel, Switzerland.

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http://dx.doi.org/10.1586/erm.09.43DOI Listing
September 2009

Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

PLoS Biol 2009 May 26;7(5):e1000119. Epub 2009 May 26.

Division of Human Genetics, Abramson Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680332PMC
May 2009

Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?

Prenat Diagn 2008 Dec;28(12):1087-93

Fluidigm Corporation, South San Francisco, USA.

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http://dx.doi.org/10.1002/pd.2150DOI Listing
December 2008

Prenatal diagnosis. Preface.

Methods Mol Biol 2008 ;444:v-vi

Laboratory of Prenatal Medicine and Gynecological Oncology, Department of Biomedicine, University Women's Hospital, Basel, Switzerland

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http://dx.doi.org/10.1007/978-1-59745-066-9DOI Listing
June 2008

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Am J Med Genet A 2007 Jun;143A(12):1287-96

Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA.

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http://dx.doi.org/10.1002/ajmg.a.31757DOI Listing
June 2007

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

Arch Ophthalmol 2006 Apr;124(4):552-7

Division of Ophthalmology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, USA.

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http://dx.doi.org/10.1001/archopht.124.4.552DOI Listing
April 2006

Ophthalmologic findings in the Cornelia de Lange Syndrome.

J AAPOS 2005 Oct;9(5):407-15

Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.jaapos.2005.05.010DOI Listing
October 2005

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Am J Med Genet A 2005 Sep;138(1):27-31

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.30919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766539PMC
September 2005

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 Sep;137A(3):276-82

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, School of Medicine, and The University of Pennsylvania, Philadelphia 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.30857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896149PMC
September 2005

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Am J Hum Genet 2004 Oct 18;75(4):610-23. Epub 2004 Aug 18.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA.

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http://dx.doi.org/10.1086/424698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182048PMC
October 2004

Probing the fetal genome: progress in non-invasive prenatal diagnosis.

Trends Mol Med 2003 Aug;9(8):339-43

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1016/s1471-4914(03)00137-0DOI Listing
August 2003

Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation.

Am J Obstet Gynecol 2002 Jun;186(6):1133-6

Department of Obstetrics and Gynecology, MCP Hahnemann University, Philadelphia, PA 19102, USA.

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http://dx.doi.org/10.1067/mob.2002.122983DOI Listing
June 2002