Publications by authors named "Jay W Ellison"

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PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Raida Khalil, Connor Kenny, R Sean Hill, Ganeshwaran H Mochida, Ramzi Nasir, Jay W Ellison

Am J Med Genet B Neuropsychiatr Genet· December 2018

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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, Jay W Ellison

Eur J Hum Genet· December 2015

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Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.
Jill A Rosenfeld, S Anne Morton, Cathryn Hummel, Scott G Sulpizio, Lisa D McDaniel, Jay W Ellison

Fetal Diagn Ther· June 2015

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Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Shimul Chowdhury, Anne M Bandholz, Sandhya Parkash, Sarah Dyack, Andrea L Rideout, Jay W Ellison

Am J Med Genet A· January 2014

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Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
Justin Overhoff, Marina M Rabideau, Lynne M Bird, Daniela N Schweitzer, Karla Haynes, Jay W Ellison

Am J Med Genet A· January 2014

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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, Nicholas J Neill, Martin G Bialer, Jay W Ellison

Hum Mutat· October 2013

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Ian S Goldlust, Karen E Hermetz, Lisa M Catalano, Richard T Barfield, Rebecca Cozad, Jay W Ellison

Proc Natl Acad Sci U S A· September 2013

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Genetic basis of intellectual disability.
Jay W Ellison, Jill A Rosenfeld, Lisa G Shaffer

Annu Rev Med· July 2013

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Investigation of NRXN1 deletions: clinical and molecular characterization.
Mindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, Luis F Escobar, Dima El-Khechen, Jay W Ellison

Am J Med Genet A· April 2013

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Retinal mosaicism in a girl with an X-Y translocation.
Carole G Cherfan, Thomas P Link, Dusica Babovic-Vuksanovic, Jay W Ellison, Michael C Brodsky

Br J Ophthalmol· February 2013

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Clinical utility of chromosomal microarray analysis.
Jay W Ellison, J Britt Ravnan, Jill A Rosenfeld, S Annie Morton, Nicholas J Neill

Pediatrics· November 2012

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Lisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, Justine Coppinger, Anne M Bandholz, Jay W Ellison

Prenat Diagn· October 2012

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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Lisa G Shaffer, Mindy P Dabell, Allan J Fisher, Justine Coppinger, Anne M Bandholz, Jay W Ellison

Prenat Diagn· October 2012

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Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Jill A Rosenfeld, Dina Amrom, Eva Andermann, Frederick Andermann, Martin Veilleux, Jay W Ellison

Neurogenetics· February 2012

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Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
Salman Kirmani, Peter J Tebben, Aida N Lteif, David Gordon, Bart L Clarke, Jay W Ellison

Am J Med Genet A· April 2010

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A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.
Elisabeth P Aponte, Jose S Pulido, Jay W Ellison, Polly A Quiram, Brian G Mohney

Ophthalmic Genet· June 2009

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Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Barbara Pasini, Sarah R McWhinney, Thalia Bei, Ludmila Matyakhina, Sotirios Stergiopoulos, Jay W Ellison

Eur J Hum Genet· January 2008

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Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.
Jay W Ellison, Marineh Yagubyan, Ramanath Majumdar, Gobinda Sarkar, Mark E Bolander

J Surg Res· September 2007

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Lisa G Shaffer, Aaron Theisen, Bassem A Bejjani, Blake C Ballif, Arthur S Aylsworth, Jay W Ellison

Genet Med· September 2007

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Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems.
Ying S Zou, Daniel L Van Dyke, Jay W Ellison

Am J Med Genet A· April 2007

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Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
Jennifer J Johnston, Robert L Walker, Sean Davis, Flavia Facio, Joyce T Turner, Jay W Ellison

J Med Genet· January 2007

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Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias.
Jonathan H Lee, Jay W Ellison, Gregory J Schears, Dana M Thompson

Int J Pediatr Otorhinolaryngol· January 2006

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Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.
Regina E Ensenauer, William J Shaughnessy, Syed M Jalal, D Brian Dawson, Laura K Courteau, Jay W Ellison

Am J Med Genet A· April 2005

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Molecular characterization of a ring X chromosome in a male with short stature.
Jay W Ellison, Mustafa Tekin, Karen Salvasen Sikes, Jerry Yankowitz, Larry Shapiro

Hum Genet· April 2002

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