Abeltje M. Polstra

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 15 publications

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Journal: Journal of human genetics

Published: March 14, 2022

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.

Journal: Neuropediatrics

Published: April 14, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 05, 2021

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report.

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report.

Journal: Bone reports

Published: February 01, 2021

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

Journal: Brain : a journal of neurology

Published: September 21, 2020

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 11, 2020

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.

Journal: American journal of medical genetics. Part A

Published: March 09, 2020

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.

Journal: Clinical genetics

Published: November 09, 2019

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Journal: Epigenomics

Published: March 16, 2019

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Journal: The Journal of clinical investigation

Published: March 01, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026