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European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
The Journal of Clinical Investigation|June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
American Journal of Human Genetics|April 17, 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar DysgenesisHeather E Olson, Nolwenn Jean-Marçais, Edward Yang, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
American Journal of Human Genetics|August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Marialetizia Motta, Thierry Gautier, et al.
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