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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
American Journal of Human Genetics|August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in <i>PLAA</i>-related neurodevelopmental disordersMichele Iacomino, Nadia Houerbi, Sara Fortuna, et al.
Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
American Journal of Human Genetics|October 5, 2019
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsAndrea Accogli, Sara Calabretta, Judith St-Onge, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
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