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Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
European Journal of Human Genetics : EJHG|November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkAnne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, 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.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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