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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Published in:
Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0254-x
By:
- Kernohan, Kristin D.;
- Schenkel, Laila Cigana;
- Lijia Huang;
- Smith, Amanda;
- Pare, Guillaume;
- Ainsworth, Peter;
- Boycott, Kym M.;
- Warman-Chardon, Jodi;
- Sadikovic, Bekim
Publication type:
Article
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Published in:
2019
By:
- Johnstone, Devon L;
- Al-Shekaili, Hilal H;
- Tarailo-Graovac, Maja;
- Wolf, Nicole I;
- Ivy, Autumn S;
- Demarest, Scott;
- Roussel, Yann;
- Ciapaite, Jolita;
- Roermund, Carlo W T van;
- Kernohan, Kristin D;
- Kosuta, Ceres;
- Ban, Kevin;
- Ito, Yoko;
- McBride, Skye;
- Al-Thihli, Khalid;
- Abdelrahim, Rana A;
- Koul, Roshan;
- Futaisi, Amna Al;
- Haaxma, Charlotte A;
- Olson, Heather
Publication type:
journal article
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059
By:
- Weiman, Daniel I.;
- Gillespie, Meredith K.;
- Hartley, Taila;
- Osmond, Matthew;
- Ito, Yoko;
- Boycott, Kym M.;
- Kernohan, Kristin D.;
- Lines, Matthew;
- McMillan, Hugh J.
Publication type:
Article
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059
By:
- Weiman, Daniel I.;
- Gillespie, Meredith K.;
- Hartley, Taila;
- Osmond, Matthew;
- Ito, Yoko;
- Boycott, Kym M.;
- Kernohan, Kristin D.;
- Lines, Matthew;
- McMillan, Hugh J.
Publication type:
Article
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247
By:
- Marshall, Aren E.;
- MacDonald, Stella K.;
- Liang, Yijing;
- Couse, Madeline;
- Boycott, Kym M.;
- Richer, Julie;
- Kernohan, Kristin D.
Publication type:
Article
Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping.
Published in:
Nucleic Acids Research, 2014, v. 42, n. 13, p. 8356, doi. 10.1093/nar/gku564
By:
- Kernohan, Kristin D.;
- Vernimmen, Douglas;
- Gloor, Gregory B.;
- Bérubé, Nathalie G.
Publication type:
Article
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63590
By:
- Marshall, Aren E.;
- Brady, Lauren;
- Yeh, Ed;
- Mears, Alan J.;
- Lacaria, Melanie;
- Chakraborty, Pranesh;
- Tarnopolsky, Mark A.;
- Kernohan, Kristin D.
Publication type:
Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
By:
- Del Gobbo, Giulia F.;
- Wang, Xueqi;
- Couse, Madeline;
- Mackay, Layla;
- Goldsmith, Claire;
- Marshall, Aren E.;
- Liang, Yijing;
- Lambert, Christine;
- Zhang, Siyuan;
- Dhillon, Harsharan;
- Fanslow, Cairbre;
- Rowell, William J.;
- Marshall, Christian R.;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63485
By:
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Liang, Yijing;
- Davila, Jorge;
- Couse, Madeline;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63455
By:
- Bhola, Priya T.;
- Mishra, Radha;
- Posey, Jennifer E.;
- Hamilton, Leslie E.;
- Graham, Gail E.;
- Punetha, Jaya;
- Lupski, James R.;
- Boycott, Kym M.;
- D'Amours, Damien;
- Kernohan, Kristin D.
Publication type:
Article
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1664, doi. 10.1002/ajmg.a.63184
By:
- Bhola, Priya T.;
- Marshall, Aren E.;
- Liang, Yijing;
- Couse, Madeline;
- Wang, Xueqi;
- Miller, Elka;
- Morel, Chantal F.;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2493, doi. 10.1002/ajmg.a.62849
By:
- MacDonald, Stella K.;
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Hartley, Taila;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3502, doi. 10.1002/ajmg.a.62457
By:
- McMillan, Hugh J.;
- Davila, Jorge;
- Osmond, Matt;
- Chakraborty, Pranesh;
- Boycott, Kym M.;
- Dyment, David A.;
- Kernohan, Kristin D.
Publication type:
Article
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3005, doi. 10.1002/ajmg.a.62398
By:
- Lemire, Gabrielle;
- Zheng, Bixia;
- Ediae, Grace U.;
- Zou, Ruobing;
- Bhola, Priya T.;
- Chisholm, Caitlin;
- de Nanassy, Joseph;
- Lo, Bryan;
- Wang, Chunyan;
- Shril, Shirlee;
- El Desoky, Sherif;
- Shalaby, Mohammed;
- Kari, Jameela A.;
- Wang, Xueqi;
- Kernohan, Kristin D.;
- Boycott, Kym M.;
- Hildebrandt, Friedhelm;
- Sawyer, Sarah L.
Publication type:
Article
Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 813, doi. 10.1002/ajmg.a.61076
By:
- Bourque, Danielle K.;
- Cloutier, Mireille;
- Kernohan, Kristin D.;
- Bareke, Eric;
- Grynspan, David;
- Michaud, Jean;
- Boycott, Kym M.
Publication type:
Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838
By:
- 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.
Publication type:
Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
Published in:
Epigenetics & Chromatin, 2017, v. 10, p. 1, doi. 10.1186/s13072-017-0118-4
By:
- Schenkel, Laila C.;
- Kernohan, Kristin D.;
- McBride, Arran;
- Reina, Ditta;
- Hodge, Amanda;
- Ainsworth, Peter J.;
- Rodenhiser, David I.;
- Pare, Guillaume;
- Bérubé, Nathalie G.;
- Skinner, Cindy;
- Boycott, Kym M.;
- Schwartz, Charles;
- Sadikovic, Bekim
Publication type:
Article
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935
By:
- McMillan, Hugh J.;
- Marshall, Aren E.;
- Venkateswaran, Sunita;
- Hartley, Taila;
- Warman‐Chardon, Jodi;
- Ramani, Arun K.;
- Marshall, Christian R.;
- Michaud, Jean;
- Boycott, Kym M.;
- Dyment, David A.;
- Kernohan, Kristin D.
Publication type:
Article
p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.
Published in:
Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618
By:
- Kernohan, Kristin D.;
- McBride, Arran;
- Hartley, Taila;
- Rojas, Samantha K.;
- Dyment, David A.;
- Boycott, Kym M.;
- Dyack, Sarah
Publication type:
Article
Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 601, doi. 10.1111/cge.13523
By:
- Carter, Melissa T.;
- Venkateswaran, Sunita;
- Shapira‐Zaltsberg, Gali;
- Davila, Jorge;
- Humphreys, Peter;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Published in:
2019
By:
- Chelban, Viorica;
- Wilson, Matthew P.;
- Warman Chardon, Jodi;
- Vandrovcova, Jana;
- Zanetti, M. Natalia;
- Zamba‐Papanicolaou, Eleni;
- Efthymiou, Stephanie;
- Pope, Simon;
- Conte, Maria R.;
- Abis, Giancarlo;
- Liu, Yo‐Tsen;
- Tribollet, Eloise;
- Haridy, Nourelhoda A.;
- Botía, Juan A.;
- Ryten, Mina;
- Nicolaou, Paschalis;
- Minaidou, Anna;
- Christodoulou, Kyproula;
- Kernohan, Kristin D.;
- Eaton, Alison
Publication type:
journal article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
By:
- 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 W.;
- Edmondson, Andrew C.;
- He, Miao;
- Spillmann, Rebecca C.;
- Eklund, Erik A.
Publication type:
Article
A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88911-3
By:
- Bustos, Francisco;
- Espejo-Serrano, Carmen;
- Segarra-Fas, Anna;
- Toth, Rachel;
- Eaton, Alison J.;
- Kernohan, Kristin D.;
- Wilson, Meredith J.;
- Riley, Lisa G.;
- Findlay, Greg M.
Publication type:
Article
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
By:
- Sleiman, Sophie;
- Marshall, Aren E;
- Dong, Xiaomin;
- Mhanni, Aziz;
- Alidou-D'Anjou, Ismaël;
- Frosk, Patrick;
- Marin, Samantha E;
- Stark, Zornitza;
- Bigio, Marc R Del;
- McBride, Arran;
- Sadedin, Simon;
- Gallacher, Lyndon;
- Consortium, Care4Rare Canada;
- Christodoulou, John;
- Boycott, Kym M;
- Dragon, François;
- Kernohan, Kristin D
Publication type:
Article
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
By:
- Johnstone, Devon L.;
- Nguyen, Thi-Tuyet-Mai;
- Yoshiko Murakami;
- Kernohan, Kristin D.;
- Tétreault, Martine;
- Goldsmith, Claire;
- Doja, Asif;
- Wagner, Justin D.;
- Huang, Lijia;
- Hartley, Taila;
- St-Denis, Anik;
- le Deist, Françoise;
- Majewski, Jacek;
- Bulman, Dennis E.;
- Taroh Kinoshita;
- Dyment, David A.;
- Boycott, Kym M.;
- Campeau, Philippe M.
Publication type:
Article
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337
By:
- Kernohan, Kristin D.;
- Tétreault, Martine;
- Liwak-Muir, Urszula;
- Geraghty, Michael T.;
- Wen Qin;
- Venkateswaran, Sunita;
- Davila, Jorge;
- Holcik, Martin;
- Majewski, Jacek;
- Richer, Julie;
- Boycott, Kym M.
Publication type:
Article
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 20, p. R60, doi. 10.1093/hmg/ddv254
By:
- McDonell, Laura M.;
- Kernohan, Kristin D.;
- Boycott, Kym M.;
- Sawyer, Sarah L.
Publication type:
Article
ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 7, p. 1824, doi. 10.1093/hmg/ddu596
By:
- Levy, Michael A.;
- Kernohan, Kristin D.;
- Yan Jiang;
- Bérubé, Nathalie G.
Publication type:
Article
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Published in:
2017
By:
- Kernohan, Kristin D.;
- Grynspan, David;
- Ramphal, Raveena;
- Bareke, Eric;
- Wang, You Chang;
- Nizalik, Elizabeth;
- Ragoussis, Jiannis;
- Jabado, Nada;
- Boycott, Kym M.;
- Majewski, Jacek;
- Sawyer, Sarah L.
Publication type:
journal article
Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice.
Published in:
BMC Cell Biology, 2011, v. 12, n. 1, p. 17, doi. 10.1186/1471-2121-12-17
By:
- Fazio, Elena N.;
- DiMattia, Gabriel E.;
- Chadi, Sami A.;
- Kernohan, Kristin D.;
- Pin, Christopher L.
Publication type:
Article
Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 800, doi. 10.1002/humu.24354
By:
- Driver, Hannah G.;
- Hartley, Taila;
- Price, E. Magda;
- Turinsky, Andrei L.;
- Buske, Orion J.;
- Osmond, Matthew;
- Ramani, Arun K.;
- Kirby, Emily;
- Kernohan, Kristin D.;
- Couse, Madeline;
- Elrick, Hillary;
- Lu, Kevin;
- Mashouri, Pouria;
- Mohan, Aarthi;
- So, Delvin;
- Klamann, Conor;
- Le, Hannah G. B. H.;
- Herscovich, Andrea;
- Marshall, Christian R.;
- Statia, Andrew
Publication type:
Article
Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 197, doi. 10.1002/humu.23374
By:
- Kernohan, Kristin D.;
- Hartley, Taila;
- Alirezaie, Najmeh;
- Care4Rare Canada Consortium;
- Robinson, Peter N.;
- Dyment, David A.;
- Boycott, Kym M.
Publication type:
Article
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211
By:
- Kernohan, Kristin D.;
- Frésard, Laure;
- Zappala, Zachary;
- Hartley, Taila;
- Smith, Kevin S.;
- Wagner, Justin;
- Xu, Hongbin;
- McBride, Arran;
- Bourque, Pierre R.;
- Consortium, Care4Rare Canada;
- Bennett, Steffany A. L.;
- Dyment, David A.;
- Boycott, Kym M.;
- Montgomery, Stephen B.;
- Warman Chardon, Jodi
Publication type:
Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
By:
- Kernohan, Kristin D.;
- Dyment, David A.;
- Pupavac, Mihaela;
- Cramer, Zvi;
- McBride, Arran;
- Bernard, Genevieve;
- Straub, Isabella;
- Tetreault, Martine;
- Hartley, Taila;
- Huang, Lijia;
- Sell, Erick;
- Majewski, Jacek;
- Rosenblatt, David S.;
- Shoubridge, Eric;
- Mhanni, Aziz;
- Myers, Tara;
- Proud, Virginia;
- Vergano, Samanta;
- Spangler, Brooke;
- Farrow, Emily
Publication type:
Article
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Published in:
2023
By:
- Thulasirajah, Salini;
- Wang, Xueqi;
- Sell, Erick;
- Dávila, Jorge;
- Dyment, David A.;
- Kernohan, Kristin D.
Publication type:
Case Study
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Published in:
2022
By:
- Kernohan, Kristin D.;
- McMillan, Hugh J.;
- Yeh, Ed;
- Lacaria, Melanie;
- Kowalski, Michael;
- Campbell, Craig;
- Dowling, James J.;
- Gonorazky, Hernan;
- Marcadier, Janet;
- Tarnopolsky, Mark A.;
- Vajsar, Jiri;
- Mackenzie, Alex;
- Chakraborty, Pranesh
Publication type:
Letter
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Published in:
Canadian Journal of Neurological Sciences, 2021, v. 48, n. 4, p. 504, doi. 10.1017/cjn.2020.229
By:
- McMillan, Hugh J.;
- Kernohan, Kristin D.;
- Yeh, Ed;
- Amburgey, Kim;
- Boyd, Jennifer;
- Campbell, Craig;
- Dowling, James J.;
- Gonorazky, Hernan;
- Marcadier, Janet;
- Tarnopolsky, Mark A.;
- Vajsar, Jiri;
- MacKenzie, Alex;
- Chakraborty, Pranesh
Publication type:
Article
Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival.
Published in:
Journal of Neuroscience, 2014, v. 34, n. 8, p. 2860, doi. 10.1523/JNEUROSCI.3769-13.2014
By:
- Watson, L. Ashley;
- Xu Wang;
- Elbert, Adrienne;
- Kernohan, Kristin D.;
- Galjart, Niels;
- Bérubé, Nathalie G.
Publication type:
Article

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