Publications by authors named "Laird G Jackson"

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Prenatal diagnosis: Down syndrome or more?
Laird G Jackson

Hum Mutat· July 2017

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Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Frederick R Bieber, Athena M Cherry, Beverly S Emanuel, Uta Francke, H Eugene Hoyme, Laird G Jackson

Genet Med· March 2017

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Laird G Jackson

Hum Mutat· April 2015

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Laird G Jackson

Hum Mol Genet· June 2014

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Sebastian Köhler, Sandra C Doelken, Christopher J Mungall, Sebastian Bauer, Helen V Firth, Andrew P Jackson, Laird G Jackson

Nucleic Acids Res· January 2014

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Matthew A Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Laird G Jackson

Nature· September 2012

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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.
Dinah M Clark, Ilana Sherer, Matthew A Deardorff, Janice L B Byrne, Kathleen M Loomes, Laird G Jackson

Am J Med Genet A· August 2012

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Germline mosaicism in Cornelia de Lange syndrome.
Thomas P Slavin, Noam Lazebnik, Dinah M Clark, Jaime Vengoechea, Leslie Cohen, Laird G Jackson

Am J Med Genet A· June 2012

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Davut Pehlivan, Melanie Hullings, Claudia M B Carvalho, Claudia G Gonzaga-Jauregui, Elizabeth Loy, Laird G Jackson

Genet Med· March 2012

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Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Weimin Bi, Amy Breman, Chad A Shaw, Pawel Stankiewicz, Tomasz Gambin, Laird G Jackson

Prenat Diagn· January 2012

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Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
Samantha A Schrier, Ilana Sherer, Matthew A Deardorff, Dinah Clark, Lynn Audette, Laird G Jackson

Am J Med Genet A· December 2011

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The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.
Michele P Lambert, Laird G Jackson, Dinah Clark, Mani Kaur, Ian D Krantz

Am J Med Genet A· January 2011

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Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Laird G Jackson

Nucleic Acids Res· September 2010

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Prenatal diagnosis of fetal aneuploidies: post-genomic developments.
Sinuhe Hahn, Laird G Jackson, Bernhard G Zimmermann

Genome Med· August 2010

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A CVS start-up.
Laird G Jackson

Prenat Diagn· July 2010

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Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
Sarika Rohatgi, Dinah Clark, Antonie D Kline, Laird G Jackson, Juan Pie

Am J Med Genet A· July 2010

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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A Deardorff, Eden V Haverfield, Laird G Jackson

Hum Mutat· November 2009

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Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies.
Sinuhe Hahn, Laird G Jackson, Varaprasad Kolla, Aniza P Mahyuddin, Mahesh Choolani

Expert Rev Mol Diagn· September 2009

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Laird G Jackson

PLoS Biol· May 2009

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Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
Bernhard G Zimmermann, Simon Grill, Wolfgang Holzgreve, Xiao Yan Zhong, Laird G Jackson

Prenat Diagn· December 2008

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Prenatal diagnosis. Preface.
Sinhue Hahn, Laird G Jackson

Methods Mol Biol· June 2008

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Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
Antonie D Kline, Ian D Krantz, Annemarie Sommer, Mark Kliewer, Laird G Jackson

Am J Med Genet A· June 2007

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Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
Sudha Nallasamy, Femida Kherani, Dinah Yaeger, Jennifer McCallum, Maninder Kaur, Laird G Jackson

Arch Ophthalmol· April 2006

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Ophthalmologic findings in the Cornelia de Lange Syndrome.
Tamara Wygnanski-Jaffe, John Shin, Enza Perruzza, Mohamed Abdolell, Laird G Jackson

J AAPOS· October 2005

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Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G Jackson

Am J Med Genet A· September 2005

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