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Impact of integrated translational research on clinical exome sequencing.
Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4.
Genet Med. 2021.
PMID: 33144682
Free article.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA.
Sewani M, et al. Among authors: tarnowski jm.
Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28.
Am J Med Genet A. 2020.
PMID: 31883306
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Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Starosta RT, Tarnowski J, Vairo FPE, Raymond K, Preston G, Morava E.
Starosta RT, et al.
Eur J Med Genet. 2020 Jul;63(7):103941. doi: 10.1016/j.ejmg.2020.103941. Epub 2020 May 11.
Eur J Med Genet. 2020.
PMID: 32407885
Free article.
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M.
Cordeddu V, et al. Among authors: tarnowski jm.
Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3.
Clin Genet. 2020.
PMID: 32415735
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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH; SHMT2 Working Group; Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A.
García-Cazorla À, et al. Among authors: tarnowski jm.
Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5.
Acta Neuropathol. 2020.
PMID: 33015733
Free PMC article.
No abstract available.
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Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN.
Klee EW, et al. Among authors: tarnowski jm.
Genet Med. 2023 Feb;25(2):100359. doi: 10.1016/j.gim.2022.12.006.
Genet Med. 2023.
PMID: 36745126
Free article.
No abstract available.
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Characteristics of Orofacial Clefting in Hawai'i.
Hoffman-Andrews L, Tarnowski JM, Lee S, Hasegawa-Evans L, Lau HL, Meister JC, Ching DL, Wallerstein R.
Hoffman-Andrews L, et al. Among authors: tarnowski jm.
Hawaii J Health Soc Welf. 2019 Aug;78(8):258-261.
Hawaii J Health Soc Welf. 2019.
PMID: 31463475
Free PMC article.
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