Publications by authors named "Kristin Kernohan"

44Publications

Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Authors:
Laura Bryant Dong Li Samuel G Cox Dylan Marchione Evan F Joiner Khadija Wilson Kevin Janssen Pearl Lee Michael E March Divya Nair Elliott Sherr Brieana Fregeau Klaas J Wierenga Alexandrea Wadley Grazia M S Mancini Nina Powell-Hamilton Jiddeke van de Kamp Theresa Grebe John Dean Alison Ross Heather P Crawford Zoe Powis Megan T Cho Marcia C Willing Linda Manwaring Rachel Schot Caroline Nava Alexandra Afenjar Davor Lessel Matias Wagner Thomas Klopstock Juliane Winkelmann Claudia B Catarino Kyle Retterer Jane L Schuette Jeffrey W Innis Amy Pizzino Sabine Lüttgen Jonas Denecke Tim M Strom Kristin G Monaghan Zuo-Fei Yuan Holly Dubbs Renee Bend Jennifer A Lee Michael J Lyons Julia Hoefele Roman Günthner Heiko Reutter Boris Keren Kelly Radtke Omar Sherbini Cameron Mrokse Katherine L Helbig Sylvie Odent Benjamin Cogne Sandra Mercier Stephane Bezieau Thomas Besnard Sebastien Kury Richard Redon Karit Reinson Monica H Wojcik Katrin Õunap Pilvi Ilves A Micheil Innes Kristin D Kernohan Gregory Costain M Stephen Meyn David Chitayat Elaine Zackai Anna Lehman Hilary Kitson Martin G Martin Julian A Martinez-Agosto Stan F Nelson Christina G S Palmer Jeanette C Papp Neil H Parker Janet S Sinsheimer Eric Vilain Jijun Wan Amanda J Yoon Allison Zheng Elise Brimble Giovanni Battista Ferrero Francesca Clementina Radio Diana Carli Sabina Barresi Alfredo Brusco Marco Tartaglia Jennifer Muncy Thomas Luis Umana Marjan M Weiss Garrett Gotway K E Stuurman Michelle L Thompson Kirsty McWalter Constance T R M Stumpel Servi J C Stevens Alexander P A Stegmann Kristian Tveten Arve Vøllo Trine Prescott Christina Fagerberg Lone Walentin Laulund Martin J Larsen Melissa Byler Robert Roger Lebel Anna C Hurst Joy Dean Samantha A Schrier Vergano Jennifer Norman Saadet Mercimek-Andrews Juanita Neira Margot I Van Allen Nicola Longo Elizabeth Sellars Raymond J Louie Sara S Cathey Elly Brokamp Delphine Heron Molly Snyder Adeline Vanderver Celeste Simon Xavier de la Cruz Natália Padilla J Gage Crump Wendy Chung Benjamin Garcia Hakon H Hakonarson Elizabeth J Bhoj

Sci Adv 2020 Dec 2;6(49). Epub 2020 Dec 2.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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December 2020

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

Am J Med Genet A 2021 01 24;185(1):119-133. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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January 2021

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.

Can J Neurol Sci 2020 Oct 16:1-8. Epub 2020 Oct 16.

Children's Hospital of Eastern Ontario Research Institute, Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.

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October 2020

A splice variant in expands the clinical and genetic spectrum of Harel-Yoon syndrome.

Neurol Genet 2020 Aug 3;6(4):e452. Epub 2020 Jun 3.

Division of Neurology (I.H., H.J.M.), Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute (H.J.M., Y.I., D.A.D.), University of Ottawa; Newborn Screen Ontario (K.D.K.), Ottawa; Department of Clinical Genetics (J.L., D.A.D.), and Division of Metabolics (M.A.L.), Children's Hospital of Eastern Ontario, University of Ottawa.

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August 2020

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

Annu Rev Genomics Hum Genet 2020 08 13;21:351-372. Epub 2020 Apr 13.

CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email:

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August 2020

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

Clin Genet 2020 06 30;97(6):835-843. Epub 2020 Mar 30.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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June 2020

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Clin Genet 2019 11 13;96(5):449-455. Epub 2019 Aug 13.

Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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November 2019

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

Am J Med Genet A 2019 05 17;179(5):837-841. Epub 2019 Feb 17.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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May 2019

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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December 2018

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Am J Hum Genet 2018 10 13;103(4):474-483. Epub 2018 Sep 13.

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

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October 2018

Periodic breathing in patients with NALCN mutations.

J Hum Genet 2018 Oct 3;63(10):1093-1096. Epub 2018 Jul 3.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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October 2018