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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Among authors: grynspan d. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C; FORGE Canada Consortium; Majewski J, Boycott KM, Graham G, Bromwich M. Liu H, et al. Among authors: grynspan d. Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899773
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape.
Lu C, Jain SU, Hoelper D, Bechet D, Molden RC, Ran L, Murphy D, Venneti S, Hameed M, Pawel BR, Wunder JS, Dickson BC, Lundgren SM, Jani KS, De Jay N, Papillon-Cavanagh S, Andrulis IL, Sawyer SL, Grynspan D, Turcotte RE, Nadaf J, Fahiminiyah S, Muir TW, Majewski J, Thompson CB, Chi P, Garcia BA, Allis CD, Jabado N, Lewis PW. Lu C, et al. Among authors: grynspan d. Science. 2016 May 13;352(6287):844-9. doi: 10.1126/science.aac7272. Science. 2016. PMID: 27174990 Free PMC article.
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E; Care4Rare Canada Consortium; Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL. Kernohan KD, et al. Among authors: grynspan d. Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26633. Epub 2017 May 16. Pediatr Blood Cancer. 2017. PMID: 28509377
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium; Boycott KM, Bastin P, Sheridan EG. Bonnefoy S, et al. Among authors: grynspan d. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003. Am J Hum Genet. 2018. PMID: 30388400 Free PMC article.
A 16-Year-Old Boy With Colonic Adenocarcinoma.
Huth K, Davila J, Ramphal R, Grynspan D, Barkey J. Huth K, et al. Among authors: grynspan d. J Pediatr Gastroenterol Nutr. 2016 Aug;63(2):e22. doi: 10.1097/MPG.0000000000000524. J Pediatr Gastroenterol Nutr. 2016. PMID: 25111223 No abstract available.
72 results