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2019 | 4 |
2024 | 0 |
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Page 1
Genomics in medicine: a novel elective rotation for internal medicine residents.
Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.
Postgrad Med J. 2019.
PMID: 31439813
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D; Undiagnosed Diseases Network; Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK.
Grove ME, et al.
J Genet Couns. 2019 Apr;28(2):466-476. doi: 10.1002/jgc4.1094. Epub 2019 Feb 1.
J Genet Couns. 2019.
PMID: 30706981
Free PMC article.
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Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM.
Tan QK, et al.
Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 29970384
Free PMC article.
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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network.
Newman JH, et al.
Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.
Mol Genet Genomic Med. 2019.
PMID: 30993913
Free PMC article.
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Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network; Wise AL, Shashi V.
Walley NM, et al.
BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.
BMC Health Serv Res. 2018.
PMID: 30134969
Free PMC article.
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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network.
Cassini TA, et al.
Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25.
Mol Genet Genomic Med. 2019.
PMID: 31020813
Free PMC article.
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