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Transfusion|May 1, 2007
Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysisCédric Le Maréchal, Christine Guerry, Caroline Benech, et al.
American Journal of Medical Genetics. Part A|January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variationKevin Uguen, Sylvia Redon, Karen Rouault, et al.
Plos One|October 4, 2011
High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathiesMarie-Lise Quillé, Solenne Carat, Sylvia Quéméner-Redon, et al.
Clinical Genetics|June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorderJonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Human Genomics|July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismEvin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature reviewMarie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
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