Faculty profile

Kristin Kernohan

ResearcherPediatricsUniversity of Ottawa

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Ottawa directory, so their courses and email address may be missing. Find their university profile.

Kristin Kernohan

Researcher

Pediatrics

Health Sciences

University of Ottawa

Ottawa, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
3 publications in the last five years, latest in 2023.
Senior (last) author on 2 recent papers, a sign of leading a research group.
Principal investigator on 1 research grant (1 CIHR), most recently in 2021.
Supervised 1 trainee who won CIHR awards, most recently in 2020.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

Citations

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Collaborators

Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Signals and details

Research

Cohort Study Congenital Infection Cost Effectiveness Cytomegalovirus Diagnostics Hearing Newborn Screening

Latest papers

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.
Neurology. Genetics · 2023 · senior author
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Neurology. Genetics · 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Clinical Genetics · 2023 · senior author

All 9 publications

Latest funding

Congenital CMV ANd HEARing in Ontario: Optimizing Screening to Improve Child Health Outcomes (CAN HEAR ONTARIO)
CIHR · 2021 · Principal investigator
$950,896
Investigation of the utility of transcriptome sequencing for the resolution of unsolved rare genetic diseases
CIHR · 2020 · Supervisor
$135,000

All 2 grants and awards

9 publications.

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Warman-Chardon J, Hartley T, Marshall AE, McBride A, Couse M, Macdonald W, Mann MRW, Bourque PR, Breiner A, Lochmüller H, Woulfe J, Sampaio ML, Melkus G, Brais B, Dyment DA, Boycott KM, Kernohan K

Neurology. Genetics2023Senior author

DOI: 10.1212/nxg.0000000000200088 PMID: 38235364

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Sampaio ML, Melkus G, Woulfe J, Parmar G, Bourque PR, Breiner A, Zwicker J, Pringle CE, Jarinova O, Lochmüller H, Dyment DA, Brais B, Boycott KM, Care4Rare Canada Consortium,, Hekimi S, Harper ME, Warman-Chardon J

Neurology. Genetics2023

DOI: 10.1212/nxg.0000000000200048 PMID: 37077559

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L

Clinical Genetics202315 citationsSenior author

DOI: 10.1111/cge.14262

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Care4Rare Consortium, Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM

American journal of medical genetics. Part A2021

DOI: 10.1002/ajmg.a.61926 PMID: 33098347

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Eaton A, Hartley T, Kernohan K, Ito Y, Lamont R, Parboosingh J, Barrowman N, Care4Rare consortium, Innes AM, Boycott K

Clinical genetics2020

DOI: 10.1111/cge.13736 PMID: 32162313

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

McNiven V, Ito YA, Hartley T, Kernohan K, Miller E, Care4Rare Canada, Armour CM

American journal of medical genetics. Part A2019

DOI: 10.1002/ajmg.a.61095 PMID: 30773799

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ, Care4Rare Consortium, van der Knaap MS, Wolf NI

Brain : a journal of neurology2017

DOI: 10.1093/brain/awx314 PMID: 29186371

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K

Orphanet Journal of Rare Diseases201763 citations

DOI: 10.1186/s13023-017-0672-7

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT, FORGE Canada Consortium, Care4Rare Canada Consortium, Hartley T, Boycott KM

Molecular genetics & genomic medicine2016

DOI: 10.1002/mgg3.223 PMID: 27652278

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Kristin Kernohan

Research

Latest papers

Latest funding

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Congenital CMV ANd HEARing in Ontario: Optimizing Screening to Improve Child Health Outcomes (CAN HEAR ONTARIO)

Investigation of the utility of transcriptome sequencing for the resolution of unsolved rare genetic diseases

Frequent collaborators

Taila Hartley

Jodi Warman Chardon

Bernard Brais

Mark Tarnopolsky

Bernard Brais

John Woulfe

Gerd Melkus

Jagdeep Walia

Gregory Costain

Jocelyn Zwicker

Michael Geraghty

Olga Jarinova

Mary-Ellen Harper

Chumei Li

Ronald Cohn

Nomazulu Dlamini

Pranesh Chakraborty

Gail Graham

Peter Kannu

Lauren Chad

Siegfried Hekimi

David Dyment

David Chitayat