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Author/Creator Kernohan, Kristin D.

4. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

Authors:
Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E...
Journal:
Annals of neurology
Issue:
Volume 92:Issue 2(2022)
Page Start:
304
Record Type:
Journal Article
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5. Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature. Issue 5 (19th March 2019)

Authors:
Carter, Melissa T.; Venkateswaran, Sunita; Shapira‐Zaltsberg, Gali; Davila, Jorge; Humphreys, Peter; Kernohan, Kristin D.; Boycott, Kym M.
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
601
Record Type:
Journal Article
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6. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. Issue 7 (16th July 2018)

Authors:
Kernohan, Kristin D.; Hartley, Taila; Naumenko, Sergey; Armour, Christine M.; Graham, Gail E.; Nikkel, Sarah M.; Lines, Matthew; Geraghty, Michael T.; Richer, Julie; Mears, Wendy; Boycott, Kym M.; Dyment, David A.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1688
Record Type:
Journal Article
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7. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

Authors:
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D. M.; Braakman, Hilde M. H.; Gripp, Karen...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1321
Record Type:
Journal Article
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8. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

Authors:
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D. M.; Braakman, Hilde M. H.; Gripp, Karen...
Other Names:
Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1321
Record Type:
Journal Article
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10. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022)

Authors:
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ...
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1609
Record Type:
Journal Article
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