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2002 1
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2006 1
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2018 1
2020 2
2021 1
2024 0

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Page 1
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: howley he. 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.
Nablus syndrome: Easy to diagnose yet difficult to solve.
Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Allanson J, et al. Among authors: howley he. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580486 Review.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, van Karnebeek CD, Lehman A, Cohn RD, MacDonald IM, Rachubinski RA, Frosk P, Vandersteen A, Wozniak RW, Pena IA, Wen XY, Lacaze-Masmonteil T, Rankin C, Hieter P. Boycott KM, et al. Among authors: howley he. Am J Hum Genet. 2020 Feb 6;106(2):143-152. doi: 10.1016/j.ajhg.2020.01.009. Am J Hum Genet. 2020. PMID: 32032513 Free PMC article.
Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation.
Horsman D, Wilson BJ, Avard D, Meschino WS, Kim Sing C, Plante M, Eisen A, Howley HE, Simard J; National Hereditary Cancer Task Force. Horsman D, et al. Among authors: howley he. J Obstet Gynaecol Can. 2007 Jan;29(1):45-60. doi: 10.1016/s1701-2163(16)32349-0. J Obstet Gynaecol Can. 2007. PMID: 17346477