Morag N. Collinson

Salisbury, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.

Journal: Clinical and experimental dermatology

Published: July 25, 2022

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.

Journal: Cytogenetic and genome research

Published: December 16, 2019

Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.

Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.

Journal: NPJ genomic medicine

Published: November 08, 2019

Response to Prakash et al.

Response to Prakash et al.

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

Published: November 28, 2018

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Journal: Human mutation

Published: May 01, 2018

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

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

Published: April 20, 2018

Inherited 2q23.1 microdeletions involving the MBD5 locus.

Inherited 2q23.1 microdeletions involving the MBD5 locus.

Journal: Molecular genetics & genomic medicine

Published: February 01, 2017

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Journal: American journal of medical genetics. Part A

Published: October 31, 2016

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Journal: American journal of medical genetics. Part A

Published: March 19, 2015

Pallister-Killian syndrome: a study of 22 British patients.

Pallister-Killian syndrome: a study of 22 British patients.

Journal: Journal of medical genetics

Published: November 06, 2014

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Journal: American journal of medical genetics. Part A

Published: November 02, 2014

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Journal: American journal of medical genetics. Part A

Published: September 14, 2014

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Last Updated: 09/26/2026