Jacques C. Giltay
Utrecht, UT 3584CX, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 33 publications
A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.
Journal: Brain : a journal of neurology
Published: October 19, 2024
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
Journal: American journal of medical genetics. Part A
Published: July 13, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Journal: Cell death & disease
Published: July 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Journal: Journal of medical genetics
Published: November 14, 2022
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 27, 2022
Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development.
Journal: HemaSphere
Published: January 06, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 22, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Journal: NPJ genomic medicine
Published: January 20, 2021
Last Updated: 09/26/2026