Catherine L Mercer

Catherine L Mercer

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Catherine L Mercer

Catherine L Mercer

Publications by authors named "Catherine L Mercer"

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With .

Circ Cardiovasc Genet 2017 Dec;10(6)

From the Wessex Clinical Genetics Service (C.L.M., I.K.T.) and Wessex Cardiac Unit (A.C., A.P.S.), University Hospital Southampton National Health Service Foundation Trust, United Kingdom; and Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, United Kingdom (G.A., I.K.T., S.E.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001683DOI Listing
December 2017

Chromosome 5q33 deletions associated with congenital heart defects.

Am J Med Genet A 2016 12 2;170(12):3338-3342. Epub 2016 Sep 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37957DOI Listing
December 2016

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Eur J Med Genet 2013 Jan 8;56(1):1-6. Epub 2012 Oct 8.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120025
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http://dx.doi.org/10.1016/j.ejmg.2012.08.012DOI Listing
January 2013

Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?

Clin Dysmorphol 2008 Apr;17(2):91-3

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282efefc9DOI Listing
April 2008