Publications by authors named "Nicole Bain"

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A familial rearrangement resulting in pure duplication of distal 19p13.3.
Nicole L Bain, Nicholas Koulouris, Rodney Scott, Melissa Buckman, Himanshu Goel

Clin Dysmorphol· October 2023

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Nicole Bain

Am J Med Genet A· December 2022

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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
Melanie Leffler, Sanna Puusepp, Olga Žilina, Ying Zhu, Kati Kuuse, Nicole Bain

Eur J Med Genet· April 2016

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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
Minaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, Monika Krecsmarik, Thomas A Hawkins, Nicole L Bain

Hum Genet· November 2015

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Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Benjamin Kamien, M Cristina Digilio, Antonio Novelli, Sheridan O'Donnell, Nicole Bain

Eur J Med Genet· November 2015

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A familial 7q36.3 duplication associated with agenesis of the corpus callosum.
Keith Wong, Randal Moldrich, Matthew Hunter, Matthew Edwards, David Finlay, Nicole Bain

Am J Med Genet A· September 2015

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Nicolas Chatron, Véronique Haddad, Joris Andrieux, Julie Désir, Odile Boute, Nicole Bain

Am J Med Genet A· May 2015

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16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.
Christina I Miteff, Robert L Smith, Nicole L Bain, Gopinath Subramanian, Janis E Brown

J Child Neurol· January 2015

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Outfoxed by RBFOX1-a caution about ascertainment bias.
Benjamin Kamien, Anath C Lionel, Nicole Bain, Stephen W Scherer, Matthew Hunter

Am J Med Genet A· June 2014

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An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Anupam Rao, Sheridan O'Donnell, Nicole Bain, Cliff Meldrum, Damon Shorter

Eur J Med Genet· February 2014

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Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow.
Nadine Kaye Berry, Nicole L Bain, Anoop K Enjeti, Philip Rowlings

J Clin Pathol· January 2014

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FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Anna K Le Fevre, Sharelle Taylor, Neva H Malek, Denise Horn, Christopher W Carr, Nicole Bain

Am J Med Genet A· December 2013

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Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus.
Hanis S Sharaidin, Stephen Knipe, Nicole Bain, Himanshu Goel

Clin Dysmorphol· April 2013

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Weight and muscularity concerns as longitudinal predictors of body image among early adolescent boys: a test of the dual pathways model.
Diane Carlson Jones, Nicole Bain, Stephanie King

Body Image· June 2008

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