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Items: 1 to 20 of 27

1.

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.

Mol Genet Genomic Med. 2019 Apr 16:e686. doi: 10.1002/mgg3.686. [Epub ahead of print]

2.

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT 3rd.

J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119.

PMID:
30964584
3.

Proximity-dependent proteomics of the Chlamydia trachomatis inclusion membrane reveals functional interactions with endoplasmic reticulum exit sites.

Dickinson MS, Anderson LN, Webb-Robertson BM, Hansen JR, Smith RD, Wright AT, Hybiske K.

PLoS Pathog. 2019 Apr 3;15(4):e1007698. doi: 10.1371/journal.ppat.1007698. eCollection 2019 Apr.

4.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

5.

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.

J Genet Couns. 2019 Apr;28(2):466-476. doi: 10.1002/jgc4.1094. Epub 2019 Feb 1.

PMID:
30706981
6.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.

Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.

PMID:
30682224
7.

P-Mart: Interactive Analysis of Ion Abundance Global Proteomics Data.

Bramer LM, Stratton KG, White AM, Bleeker AH, Kobold MA, Waters KM, Metz TO, Rodland KD, Webb-Robertson BM.

J Proteome Res. 2019 Mar 1;18(3):1426-1432. doi: 10.1021/acs.jproteome.8b00840. Epub 2019 Feb 6.

PMID:
30667224
8.

pmartR: Quality Control and Statistics for Mass Spectrometry-Based Biological Data.

Stratton KG, Webb-Robertson BM, McCue LA, Stanfill B, Claborne D, Godinez I, Johansen T, Thompson AM, Burnum-Johnson KE, Waters KM, Bramer LM.

J Proteome Res. 2019 Mar 1;18(3):1418-1425. doi: 10.1021/acs.jproteome.8b00760. Epub 2019 Jan 28.

PMID:
30638385
9.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

PMID:
30304647
10.

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.

BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.

11.

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.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.

12.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network.

Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.

13.

High-Fat Diets Alter the Modulatory Effects of Xenobiotics on Cytochrome P450 Activities.

Sadler NC, Webb-Robertson BM, Clauss TR, Pounds JG, Corley R, Wright AT.

Chem Res Toxicol. 2018 May 21;31(5):308-318. doi: 10.1021/acs.chemrestox.8b00008. Epub 2018 May 4.

PMID:
29688711
14.

Quality Control Analysis in Real-time (QC-ART): A Tool for Real-time Quality Control Assessment of Mass Spectrometry-based Proteomics Data.

Stanfill BA, Nakayasu ES, Bramer LM, Thompson AM, Ansong CK, Clauss TR, Gritsenko MA, Monroe ME, Moore RJ, Orton DJ, Piehowski PD, Schepmoes AA, Smith RD, Webb-Robertson BM, Metz TO; TEDDY Study Group.

Mol Cell Proteomics. 2018 Sep;17(9):1824-1836. doi: 10.1074/mcp.RA118.000648. Epub 2018 Apr 17.

PMID:
29666158
15.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

16.

MERS-CoV and H5N1 influenza virus antagonize antigen presentation by altering the epigenetic landscape.

Menachery VD, Schäfer A, Burnum-Johnson KE, Mitchell HD, Eisfeld AJ, Walters KB, Nicora CD, Purvine SO, Casey CP, Monroe ME, Weitz KK, Stratton KG, Webb-Robertson BM, Gralinski LE, Metz TO, Smith RD, Waters KM, Sims AC, Kawaoka Y, Baric RS.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E1012-E1021. doi: 10.1073/pnas.1706928115. Epub 2018 Jan 16.

17.

Multi-platform 'Omics Analysis of Human Ebola Virus Disease Pathogenesis.

Eisfeld AJ, Halfmann PJ, Wendler JP, Kyle JE, Burnum-Johnson KE, Peralta Z, Maemura T, Walters KB, Watanabe T, Fukuyama S, Yamashita M, Jacobs JM, Kim YM, Casey CP, Stratton KG, Webb-Robertson BM, Gritsenko MA, Monroe ME, Weitz KK, Shukla AK, Tian M, Neumann G, Reed JL, van Bakel H, Metz TO, Smith RD, Waters KM, N'jai A, Sahr F, Kawaoka Y.

Cell Host Microbe. 2017 Dec 13;22(6):817-829.e8. doi: 10.1016/j.chom.2017.10.011. Epub 2017 Nov 16.

18.

P-MartCancer-Interactive Online Software to Enable Analysis of Shotgun Cancer Proteomic Datasets.

Webb-Robertson BM, Bramer LM, Jensen JL, Kobold MA, Stratton KG, White AM, Rodland KD.

Cancer Res. 2017 Nov 1;77(21):e47-e50. doi: 10.1158/0008-5472.CAN-17-0335.

19.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.

20.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE; UDN, Perrimon N, Liu Z, Bellen HJ.

Am J Hum Genet. 2017 Jun 1;100(6):843-853. doi: 10.1016/j.ajhg.2017.04.010. Epub 2017 May 11.

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