Maternal smoking and congenital birth defects

Mouse models of patent ductus arteriosus (PDA) and their relevance for human PDA.

Developmental dynamics : an official publication of the American Association of Anatomists·2021

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·2021

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics·2019

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

American journal of human genetics·2017

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

Molecular cell·2015