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Journal of Medical Genetics|August 1, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsMathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.Pageof 5