Annemarie E. Welch
Parkville, VIC, Australia
Last Updated: 09/26/2026
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Found 11 publications
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 04, 2024
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Journal: Genes
Published: March 19, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Journal: Med (New York, N.Y.)
Published: February 12, 2021
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
Journal: Nature communications
Published: September 14, 2020
An evolutionary driver of interspersed segmental duplications in primates.
Journal: Genome biology
Published: December 03, 2019
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Journal: Nature communications
Published: October 24, 2018
Long-read sequence and assembly of segmental duplications.
Journal: Nature methods
Published: June 01, 2018
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: April 25, 2018
Characterizing the Major Structural Variant Alleles of the Human Genome.
Journal: Cell
Published: March 27, 2018
High-resolution comparative analysis of great ape genomes.
Journal: Science (New York, N.Y.)
Published: December 07, 2017
Showing 1-11 of 11
Last Updated: 09/26/2026