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Author/Creator Kernohan, Kristin

1. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

Authors:
Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
119
Record Type:
Journal Article
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2. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022)

Authors:
Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
288
Record Type:
Journal Article
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4. Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Issue 1 (December 2016)

Authors:
Kernohan, Kristin; Cigana Schenkel, Laila; Huang, Lijia; Smith, Amanda; Pare, Guillaume; Ainsworth, Peter; Boycott, Kym; Warman-Chardon, Jodi; Sadikovic, Bekim
Journal:
Clinical epigenetics
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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6. Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. (25th February 2023)

Authors:
Smith, Ian C.; Pileggi, Chantal A.; Wang, Ying; Kernohan, Kristin; Hartley, Taila; McMillan, Hugh J.; Sampaio, Marcos Loreto; Melkus, Gerd; Woulfe, John; Parmar, Gaganvir; Bourque, Pierre R.; Breiner, Ari; Zwicker, Jocelyn; Pringle, C. Elizabeth; Jarinova, Olga; Lochmüller, Hanns; Dyment, David A...
Journal:
Neurology
Issue:
Volume 9:Number 1(2023)
Page Start:
Record Type:
Journal Article
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