Kristin D. Kernohan

3.4k citations

49 papers · 1.3k indexed · h-index 18

Genetics top 5%
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 10
- Genomics and Rare Diseases 8
- Genetic Syndromes and Imprinting 4
Molecular Biology top 10%
- RNA modifications and cancer 8
- Epigenetics and DNA Methylation 6
- Genomics and Chromatin Dynamics 4
Genetics top 10%
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 10
- Genomics and Rare Diseases 8
- Genetic Syndromes and Imprinting 4
Cancer Research
- Cancer Genomics and Diagnostics 4
Cell Biology

Co-authors: Kym M. Boycott Nathalie G. Bérubé Taila Hartley Jacek MajewskiYan JiangNajmeh Alirezaie Toby Dylan Hocking David A. Dyment
Cited by: Genetics Molecular Biology
Partner nations: Canada United States Australia

In The Last Decade

Kristin D. Kernohan

47 papers receiving 1.3k citations

Peers

Countries citing papers authored by Kristin D. Kernohan

Since Specialization

Citations

This map shows the geographic impact of Kristin D. Kernohan's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Kristin D. Kernohan with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Kristin D. Kernohan more than expected).

Fields of papers citing papers by Kristin D. Kernohan

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Kristin D. Kernohan. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Kristin D. Kernohan. The network helps show where Kristin D. Kernohan may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Kristin D. Kernohan, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Kristin D. Kernohan Line = papers co-authored together Kristin D. Kernohan links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Congenital tremor and myopathy secondary to novel MYBPC1 variant Heather Leduc‐Pessah,Ian C. P. Smith,Kristin D. Kernohan,Marcos Loreto Sampaio,Gerd Melkus,Lauren Strasser,Caitlin Chisholm,Lijia Huang,Ilana Hanes,M. Tran,Sunita Venkateswaran,Katherine Muir,Laurel Charlesworth,Jodi Warman‐Chardon	2024	4
2	Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction Jodi Warman‐Chardon,Taila Hartley,Aren E. Marshall,Arran McBride,Madeline Couse,William MacDonald,Mellissa R.W. Mann,Pierre R. Bourque,Ari Breiner,Hanns Lochmüller,John Woulfe,Marcos Loreto Sampaio,Gerd Melkus,Bernard Brais,David A. Dyment,Kym M. Boycott,Kristin D. Kernohan	2023	2
3	RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31 Aren E. Marshall,Gabrielle Lemire,Yijing Liang,Jorge Dávila,Madeline Couse,Kym M. Boycott,Kristin D. Kernohan	2023	1
4	Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development Giulia Gobbo,Xueqi Wang,Madeline Couse,Layla Mackay,Claire Goldsmith,Aren E. Marshall,Yijing Liang,Christine Lambert,Siyuan Zhang,Harsharan Dhillon,Cairbre Fanslow,William J. Rowell,Christian R. Marshall,Kristin D. Kernohan,Kym M. Boycott	2023	6
5	Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery Kym M. Boycott,Taila Hartley,Kristin D. Kernohan,David A. Dyment,Heather Howley,A. Micheil Innes,François P. Bernier,Michael Brudno	2022	15
6	A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia Keith Backman,Wendy Mears,Androu Waheeb,Mélanie Beaulieu Bergeron,Jeff McClintock,Joseph de Nanassy,Joseph Reisman,Matthew Osmond,Taila Hartley,Alan J. Mears,Kristin D. Kernohan,David A. Dyment	2021	5
7	Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia Gabrielle Lemire,Bixia Zheng,Grace U. Ediae,Ruobing Zou,Priya T. Bhola,Caitlin Chisholm,Joseph de Nanassy,Bernard Lo,Chunyan Wang,Shirlee Shril,Sherif El Desoky,Mohammed Shalaby,Jameela A. Kari,Xueqi Wang,Kristin D. Kernohan,Kym M. Boycott,Friedhelm Hildebrandt,Sarah L. Sawyer	2021	4
8	Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia Sophie Sleiman,Aren E. Marshall,Xiaomin Dong,Aziz Mhanni,Ismaël Alidou-D’Anjou,Patrick Frosk,Samantha Marin,Zornitza Stark,Marc R. Del Bigio,Arran McBride,Simon Sadedin,Lyndon Gallacher,John Christodoulou,Kym M. Boycott,François Dragon,Kristin D. Kernohan	2021	10
9	A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome Francisco Bustos,Carmen Espejo-Serrano,Anna Segarra-Fas,Rachel Toth,Alison Eaton,Kristin D. Kernohan,Meredith Wilson,Lisa G. Riley,Greg M. Findlay	2021	7
10	Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations Hugh J. McMillan,Kristin D. Kernohan,Ed Yeh,K. Amburgey,Jennifer Boyd,Craig Campbell,James J. Dowling,Hernán Gonorazky,Janet Marcadier,Mark A. Tarnopolsky,Jiri Vajsar,Alex MacKenzie,Pranesh Chakraborty	2020	26
11	Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Erfan Aref‐Eshghi,David I. Rodenhiser,Laila C. Schenkel,Hanxin Lin,Cindy Skinner,Peter Ainsworth,Guillaume Paré,Rebecca L. Hood,Dennis E. Bulman,Kristin D. Kernohan,Kym M. Boycott,Philippe M. Campeau,Charles E. Schwartz,Bekim Sadiković	2018	90
12	ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants Najmeh Alirezaie,Kristin D. Kernohan,Taila Hartley,Jacek Majewski,Toby Dylan Hocking	2018	141
13	Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome Laila C. Schenkel,Kristin D. Kernohan,Arran McBride,Reina Ditta,Amanda Hodge,Peter Ainsworth,David I. Rodenhiser,Guillaume Paré,Nathalie G. Bérubé,Cindy Skinner,Kym M. Boycott,Charles E. Schwartz,Bekim Sadiković	2017	42
14	Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy Devon L. Johnstone,Thi-Tuyet-Mai Nguyen,Yoshiko Murakami,Kristin D. Kernohan,Martine Tétreault,Claire Goldsmith,Asif Doja,Justin D. Wagner,Lijia Huang,Taila Hartley,Anik St‐Denis,Françoise Le Deist,Jacek Majewski,Dennis E. Bulman,Taroh Kinoshita,David A. Dyment,Kym M. Boycott,Philippe M. Campeau	2017	33
15	Yunis-Varón syndrome caused by biallelic VAC14 mutations Matthew A. Lines,Yoko Itō,Kristin D. Kernohan,Wendy Mears,Julie Hurteau-Miller,Sunita Venkateswaran,Leanne M. Ward,Karine Khatchadourian,Jeff McClintock,Priya T. Bhola,Philippe M. Campeau,Kym M. Boycott,Jean Michaud,André B. P. Kuilenburg,Sacha Ferdinandusse,David A. Dyment	2017	23
16	H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm Kristin D. Kernohan,David Grynspan,Raveena Ramphal,Eric Bareke,You Chang Wang,Elizabeth Nizalik,Jiannis Ragoussis,Nada Jabado,Kym M. Boycott,Jacek Majewski,Sarah L. Sawyer	2017	6
17	Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly Kristin D. Kernohan,Aaron McBride,Y. Xi,Nicole Martin,Jeremy Schwartzentruber,David A. Dyment,Jacek Majewski,Susan Blasér,Kym M. Boycott,David Chitayat	2016	25
18	Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin Laura M. McDonell,Kristin D. Kernohan,Kym M. Boycott,Sarah L. Sawyer	2015	72
19	Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival L. Ashley Watson,Xu Wang,Adrienne Elbert,Kristin D. Kernohan,Niels Galjart,Nathalie G. Bérubé	2014	64
20	ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain Kristin D. Kernohan,Yan Jiang,Deanna C. Tremblay,Anne C. Bonvissuto,James H. Eubanks,Mellissa R.W. Mann,Nathalie G. Bérubé	2010	136

About Kristin D. Kernohan

Kristin D. Kernohan is a scholar working on Genetics, Molecular Biology and Clinical Biochemistry, having authored 49 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (10 papers), Genomics and Rare Diseases (8 papers), RNA modifications and cancer (8 papers), Epigenetics and DNA Methylation (6 papers), Genetic Syndromes and Imprinting (4 papers), Cancer Genomics and Diagnostics (4 papers) and Genomics and Chromatin Dynamics (4 papers). The work is most often cited by research in Genetics (584 citations), Molecular Biology (887 citations) and Genetics (80 citations). Kristin D. Kernohan has collaborated with scholars based in Canada, United States and Australia. Frequent co-authors include Kym M. Boycott, Nathalie G. Bérubé, Taila Hartley, Jacek Majewski, Yan Jiang, Najmeh Alirezaie, Toby Dylan Hocking, David A. Dyment, Dennis E. Bulman and Mellissa R.W. Mann.

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