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American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
The Lancet. Infectious Diseases|March 19, 2013
Sofosbuvir in combination with peginterferon alfa-2a and ribavirin for non-cirrhotic, treatment-naive patients with genotypes 1, 2, and 3 hepatitis C infection: a randomised, double-blind, phase 2 trialEric Lawitz, Jay P Lalezari, Tarek Hassanein, et al.
JHEP Reports : Innovation in Hepatology|March 21, 2024
Long-term open-label vebicorvir for chronic HBV infection: Safety and off-treatment responsesMan-Fung Yuen, Scott Fung, Xiaoli Ma, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
Nature Methods|July 13, 2023
Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precisionMarieke Vromman, Jasper Anckaert, Stefania Bortoluzzi, et al.
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
European Heart Journal|October 14, 2017
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathyFarbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, et al.
American Journal of Human Genetics|July 25, 2020
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal ArthrogryposisJessica X Chong, Jared C Talbot, Emily M Teets, et al.
The Journal of Clinical Investigation|April 1, 2024
OCaR1 endows exocytic vesicles with autoregulatory competence by preventing uncontrolled Ca2+ release, exocytosis, and pancreatic tissue damageVolodymyr Tsvilovskyy, Roger Ottenheijm, Ulrich Kriebs, et al.
Brain : a Journal of Neurology|March 22, 2019
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's diseaseJonathan Vöglein, Katrina Paumier, Mathias Jucker, et al.
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