Concepedia

Author

Kristin D. Kernohan

University of Ottawa

Also Known As

Kristin D Kernohan, Kristin D. Kernohan, Kristin Kernohan

13

Publications

495

Citations

8

H-Index

23

Concepts

All Affiliations

University of OttawaChildren's Hospital of Eastern OntarioWestern UniversityNewborn Screening OntarioOttawa Hospital
KD

About

Kristin D. Kernohan is an author at University of Ottawa specializing in medicine, neurology, and rare diseases.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

252

2

Neurology

2

2

88

3

Social Sciences

1

1

76

4

Neuroscience

1

1

76

5

Rehabilitation

1

1

12

Kristin D. Kernohan

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8

Publications

495

Citations

8

H-Index

YearCitations

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais,

Neuromuscular Disorders

2021

164

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang,

Clinical Epigenetics

2016

79

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey,

Human Mutation

2022

76

<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon,

Annals of Neurology

2019

72

Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice

Elena N. Fazio, Gabriel E. DiMattia, Sami A. Chadi,

BMC Cell Biology

2011

42

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

Kristin D. Kernohan, Laure Frésard, Zachary Zappala,

Human Mutation

2017

35

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

Meredith Gillespie, Hugh J. McMillan, Kristin D. Kernohan,

Journal of Neuromuscular Diseases

2019

15

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Sandra Whalen, Marie Shaw, Cyril Mignot,

European Journal of Human Genetics

2021

12

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