Last Updated: 09/26/2026
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Found 24 publications
Introduction to Special Issue: Genomic Analysis of Common Disease.
Journal: Current issues in molecular biology
Published: January 28, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Journal: Current issues in molecular biology
Published: January 01, 2024
A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Journal: Current issues in molecular biology
Published: June 05, 2023
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 25, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Journal: Brain : a journal of neurology
Published: May 25, 2020
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Journal: Cold Spring Harbor molecular case studies
Published: May 02, 2017
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Journal: Journal of medical genetics
Published: November 23, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Journal: American journal of medical genetics. Part A
Published: March 09, 2016
Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up.
Journal: American journal of medical genetics. Part A
Published: October 04, 2015
Last Updated: 09/26/2026