Kamilla Bartusiak-Schlade

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 11 publications

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Journal: Journal of medical genetics

Published: July 19, 2024

Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.

Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.

Journal: F&S reports

Published: March 07, 2022

Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.

Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.

Journal: American journal of medical genetics. Part A

Published: October 07, 2021

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

Journal: Clinical dysmorphology

Published: August 21, 2021

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

Journal: American journal of medical genetics. Part A

Published: December 17, 2020

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Journal: Human genetics

Published: January 08, 2016

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Journal: Clinical dysmorphology

Published: December 05, 2015

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Journal: American journal of medical genetics. Part A

Published: November 28, 2013

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Journal: European journal of medical genetics

Published: October 09, 2012

Uniparental disomy: can SNP array data be used for diagnosis?

Uniparental disomy: can SNP array data be used for diagnosis?

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

Published: April 28, 2012

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Journal: American journal of medical genetics. Part A

Published: March 13, 2012

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Last Updated: 09/26/2026