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American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
HGG Advances|March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.
Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
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