Publications by authors named "Catherine L Mercer"

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Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in -Related LQTS.
Susan Clasper, Gunjan Trivedi, Kate L Thomson, Claire L S Turner, Smrithi Devaiah, Catherine L Mercer

Circ Genom Precis Med· April 2025

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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Gerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, Christopher Learn, John C Dykes, Catherine L Mercer

Am J Med Genet A· May 2022

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Catherine L Mercer

Am J Hum Genet· February 2019

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Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With .
Catherine L Mercer, Gaia Andreoletti, Aisling Carroll, Anthony P Salmon, I Karen Temple

Circ Cardiovasc Genet· December 2017

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Chromosome 5q33 deletions associated with congenital heart defects.
Molly Starkovich, Seema R Lalani, Catherine L Mercer, Daryl A Scott

Am J Med Genet A· December 2016

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Saeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, Sebastian S Gerety, Marc-Phillip Hitz

Am J Hum Genet· March 2016

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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Jessica X Chong, Margaret J McMillin, Kathryn M Shively, Anita E Beck, Colby T Marvin, Catherine L Mercer

Am J Hum Genet· March 2015

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Rare variants in NR2F2 cause congenital heart defects in humans.
Saeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, Sebastian S Gerety, Marc-Phillip Hitz

Am J Hum Genet· April 2014

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Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
Catherine L Mercer, Katherine Lachlan, Alexandra Karcanias, Nabeel Affara, Shuwen Huang

Eur J Med Genet· January 2013

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OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, Dominique Martin-Coignard, Anthony Iacovelli, Catherine L Mercer

J Med Genet· June 2012

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Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
Catherine L Mercer, Barry Keeton, Nicolas R Dennis

Clin Dysmorphol· April 2008

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