Last Updated: 09/26/2026
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Found 9 publications
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Journal: American journal of medical genetics. Part A
Published: December 20, 2024
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Journal: Journal of child neurology
Published: September 15, 2020
Missense variant contribution to USP9X-female syndrome.
Journal: NPJ genomic medicine
Published: August 07, 2020
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
Journal: Molecular genetics and metabolism reports
Published: August 21, 2019
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Journal: Brain : a journal of neurology
Published: April 30, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Journal: American journal of medical genetics. Part A
Published: December 31, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Journal: European journal of human genetics : EJHG
Published: December 05, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Journal: Human mutation
Published: January 08, 2016
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Last Updated: 09/26/2026