Last Updated: 09/26/2026
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Found 25 publications
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Journal: Molecular genetics & genomic medicine
Published: October 05, 2020
Renal cystic diseases during the perinatal and neonatal period.
Journal: Journal of neonatal-perinatal medicine
Published: September 28, 2020
Genetics of syndromic and nonsyndromic aortopathies.
Journal: Current opinion in pediatrics
Published: November 07, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 17, 2018
Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.
Journal: Clinical and translational science
Published: June 12, 2017
Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies.
Journal: Current heart failure reports
Published: October 17, 2015
Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.
Journal: American journal of medical genetics. Part A
Published: September 24, 2015
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Journal: Circulation research
Published: July 13, 2015
Systemic connective tissue features in women with fibromuscular dysplasia.
Journal: Vascular medicine (London, England)
Published: July 10, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Journal: Molecular cell
Published: April 17, 2015
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
Journal: American journal of medical genetics. Part A
Published: January 07, 2015
Last Updated: 09/26/2026