Jakob Ek
Copenhagen, Denmark
Last Updated: 09/26/2026
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Found 30 publications
Diagnostic yield of whole exome sequencing in a cohort of 825 patients.
Journal: European journal of medical genetics
Published: April 30, 2025
Viral infection and brain inflammation with seizures in PARK7 deficiency.
Journal: Journal of human immunity
Published: March 20, 2025
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.
Journal: JIMD reports
Published: March 12, 2025
Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Journal: Clinical genetics
Published: November 12, 2024
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 11, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
Journal: Clinical genetics
Published: March 05, 2024
DNA methylation signature classification of rare disorders using publicly available methylation data.
Journal: Clinical genetics
Published: December 07, 2022
Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.
Journal: Frontiers in neurology
Published: May 31, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Journal: Brain : a journal of neurology
Published: February 14, 2022
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Journal: Human molecular genetics
Published: June 23, 2021
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.
Journal: European journal of medical genetics
Published: March 25, 2021
Last Updated: 09/26/2026