Amit Kawalia
Koeln, NW, Germany
Last Updated: 09/26/2026
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Found 25 publications
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
Journal: American journal of human genetics
Published: April 20, 2026
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Journal: Molecular neurodegeneration
Published: February 20, 2025
Correction: The genomic and clinical landscape of fetal akinesia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2020
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Journal: Acta neuropathologica
Published: January 20, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Journal: Clinical genetics
Published: January 15, 2020
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Journal: Nature genetics
Published: August 17, 2019
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Journal: Cold Spring Harbor molecular case studies
Published: August 05, 2019
The genomic and clinical landscape of fetal akinesia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Journal: Human mutation
Published: April 18, 2019
Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood.
Journal: Clinical epigenetics
Published: April 08, 2019
Last Updated: 09/26/2026