Kym M Boykott

53PUBLICATIONS
143CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (53)

|Jun 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

|May 05, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

|Oct 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.

Matthew Osmond, E Magda Price, Orion J Buske

|Jun 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence

|Mar 12, 2025
A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus.

Leanne de Kock, Macarena Nougues, Madeline Couse

|Feb 03, 2025
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.

Giulia F Del Gobbo, Kym M Boycott

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Frequent Collaborators

11 joint publications

David A Dyment

7 joint publications

Gabrielle Lemire

6 joint publications

A Micheil Innes

6 joint publications

Hugh J McMillan