William B. Dobyns
Pediatrics | Neurology | Medical Genetics
2450 Riverside Avenue
Floor 12
Minneapolis, MN 55454
Floor 12
Minneapolis, MN 55454
Last Updated: 09/26/2026
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Found 211 publications
Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge.
Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge.
Journal: Diagnostics (Basel, Switzerland)
Published: April 01, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
Response to Kane and Coleman.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 06, 2025
RBMX functional retrocopy safeguards brain development in a species-dependent context.
Journal: Brain : a journal of neurology
Published: September 11, 2025
Beyond hearing loss: exploring neurological and neurodevelopmental sequelae in asymptomatic congenital cytomegalovirus infection.
Journal: Pediatric research
Published: April 17, 2025
P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis.
Journal: Genetics in medicine open
Published: April 07, 2025
Pontocerebellar hypoplasia: a review from 1912 to 2022.
Journal: Brain communications
Published: March 06, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Journal: American journal of human genetics
Published: February 11, 2025
Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: January 11, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Journal: American journal of medical genetics. Part A
Published: December 20, 2024
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Journal: American journal of human genetics
Published: August 27, 2024
Last Updated: 09/26/2026