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Year Number of Results
2010 2
2011 1
2014 4
2015 4
2016 3
2017 11
2018 10
2019 8
2020 7
2021 15
2022 15
2023 12
2024 10
2025 5

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91 results

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Page 1
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: kernohan kd. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. Hum Mutat. 2022. PMID: 35904121
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: kernohan kd. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
Dunn JKE, Chakraborty P, Reuvers E, Gallagher L, Kernohan KD, Lacaria M, Barton M, Leifso K, Pernica JM, Santander E, Pigeon M, Cushing SL, MacCormick J, Gantt S, Weber S, Bitnun A, Brophy J. Dunn JKE, et al. Among authors: kernohan kd. JAMA Pediatr. 2025 Mar 1;179(3):332-339. doi: 10.1001/jamapediatrics.2024.5562. JAMA Pediatr. 2025. PMID: 39836409 Free PMC article.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. Tshering KC, et al. Genet Med. 2025 May;27(5):101392. doi: 10.1016/j.gim.2025.101392. Epub 2025 Feb 19. Genet Med. 2025. PMID: 39987489
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. Hartley T, et al. Among authors: kernohan kd. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:351-372. doi: 10.1146/annurev-genom-083118-015345. Epub 2020 Apr 13. Annu Rev Genomics Hum Genet. 2020. PMID: 32283948 Review.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: kernohan kd. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Venkateswaran S, Michaud J, Ito Y, Geraghty M, Lewis EC, Ellezam B, Boycott KM, Dyment DA, Kernohan KD; Care4Rare Canada Consortium. Venkateswaran S, et al. Among authors: kernohan kd. Mov Disord. 2024 Nov;39(11):2102-2109. doi: 10.1002/mds.29938. Epub 2024 Sep 3. Mov Disord. 2024. PMID: 39224955
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.
Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD. Ito Y, et al. Among authors: kernohan kd. Neurol Genet. 2018 Nov 13;4(6):e288. doi: 10.1212/NXG.0000000000000288. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30643851 Free PMC article. No abstract available.
91 results