Alma Kuechler
Essen, NW, Germany
Last Updated: 09/26/2026
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Found 104 publications
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
Journal: American journal of medical genetics. Part A
Published: April 14, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Journal: The Journal of clinical investigation
Published: January 28, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Last Updated: 09/26/2026