Publications by authors named "Gordon Gowans"

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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Jennifer M Bain, Megan T Cho, Aida Telegrafi, Ashley Wilson, Susan Brooks, Gordon Gowans

Am J Hum Genet· September 2016

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Julián Nevado, Jill A Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, Gordon Gowans

Eur J Hum Genet· December 2015

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Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.
Ted Kalbfleisch, Pamela Brock, Angela Snow, Deborah Neklason, Gordon Gowans

F1000Res· July 2015

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Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
Monika Thapa, Alexander Asamoah, Gordon C Gowans, Kathryn C Platky, Margaret J Barch

Am J Med Genet A· April 2014

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Gordon C Gowans

N Engl J Med· October 2012

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Neurotransmitter abnormalities and response to supplementation in SPG11.
Adeline Vanderver, Davide Tonduti, Sarah Auerbach, Johanna L Schmidt, Sumit Parikh, Gordon C Gowans

Mol Genet Metab· September 2012

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NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
Kimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, David Beversdorf, Arthur Yu

Genet Med· May 2012

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A two-month-old infant with respiratory distress and left ventricular hypertrophy.
Ilana L Kayrouz, Bibhuti B Das, Gordon C Gowans, Christopher L Johnsrude

J Pediatr· January 2011

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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Stephen R Williams, Micheala A Aldred, Vazken M Der Kaloustian, Fahed Halal, Gordon Gowans

Am J Hum Genet· August 2010

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Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.
Ariel M Pani, Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Patricia Bray-Ward, Gordon C Gowans

PLoS One· August 2010

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Gordon C Gowans

Nat Genet· March 2010

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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Blake C Ballif, Aaron Theisen, Jill A Rosenfeld, Ryan N Traylor, Julie Gastier-Foster, Gordon C Gowans

Am J Hum Genet· March 2010

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Cornelia de Lange Syndrome: a case report with clinical review and recommended anticipatory guidance for the general practitioner.
Anthony R Theile, Gordon Gowans

J Ky Med Assoc· September 2009

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Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
Roland Haj, Kelly Jackson, Beth A Torchia, Lisa G Shaffer, Bassem A Bejjani, Gordon C Gowans

Mol Cytogenet· January 2009

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh

Mol Cytogenet· April 2008

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Gordon C Gowans

Nat Genet· September 2007

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Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
Brad Angle, Frank Yen, Joseph H Hersh, Gordon Gowans

Am J Med Genet A· February 2003

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Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.
Brad Angle, Frank Yen, Joseph H Hersh, Gordon Gowans, Margaret Barch

Am J Med Genet· August 2002

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Developmental field defects: coming together of associations and sequences during blastogenesis.
Joseph H Hersh, Brad Angle, Terry L Fox, Rolf F Barth, Robert W Bendon, Gordon Gowans

Am J Med Genet· July 2002

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