Last Updated: 09/26/2026
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Found 70 publications
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.
Journal: Bone
Published: May 21, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: May 09, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: March 20, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Journal: Brain : a journal of neurology
Published: October 26, 2023
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: April 06, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Journal: American journal of human genetics
Published: January 05, 2023
Diagnosis of Charcot-Marie-Tooth Disease in a Patient With Decreased Vision From Optic Atrophy and No Other Neurological Symptoms.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: April 15, 2022
Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.
Journal: Journal of personalized medicine
Published: April 12, 2022
Retinal Degeneration Associated With the G1606A Mitochondrial Mutation.
Journal: Ophthalmic surgery, lasers & imaging retina
Published: February 11, 2022
Multidisciplinary Consulting Team for Complicated Cases of Neurodevelopmental and Neurobehavioral Disorders: Assessing the Opportunities and Challenges of Integrating Pharmacogenomics into a Team Setting.
Journal: Journal of personalized medicine
Published: February 03, 2022
Last Updated: 09/26/2026