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Journal of Medical Genetics|January 26, 2017
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.Proceedings of the National Academy of Sciences of the United States of America|November 13, 2024
How to make land use policy decisions: Integrating science and economics to deliver connected climate, biodiversity, and food objectivesIan J Bateman, Amy Binner, Ethan T Addicott, et al.Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.Medrxiv : the Preprint Server for Health Sciences|May 5, 2025
A Translational Neuroscience & Computational Evaluation of a D1R Partial Agonist for Schizophrenia (TRANSCENDS): Rationale and Study Design of a Brain-Based Clinical TrialClara Fonteneau, Zailyn Tamayo, Ally Price, et al.Journal of Psychiatric Research|January 10, 2026
A translational neuroscience & computational evaluation of a D1R partial agonist for schizophrenia (TRANSCENDS): Rationale and study design of a brain-based clinical trialClara Fonteneau, Zailyn Tamayo, Ally Price, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.Pageof 40