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Items: 1 to 20 of 49

1.

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. 2018 Jun 15. doi: 10.1038/s41436-018-0044-2. [Epub ahead of print]

PMID:
29907797
2.

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.

Tikkanen E, Gustafsson S, Amar D, Shcherbina A, Waggott D, Ashley EA, Ingelsson E.

Sci Rep. 2018 Apr 24;8(1):6451. doi: 10.1038/s41598-018-24735-y.

3.

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.

4.

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.

5.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA.

Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22.

6.

Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort.

Shcherbina A, Mattsson CM, Waggott D, Salisbury H, Christle JW, Hastie T, Wheeler MT, Ashley EA.

J Pers Med. 2017 May 24;7(2). pii: E3. doi: 10.3390/jpm7020003.

7.

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.

8.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.

Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V.

Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.

9.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

10.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.

11.

Erratum to: A bedr way of genomic interval processing.

Haider S, Waggott D, Lalonde E, Fung C, Liu FF, Boutros PC.

Source Code Biol Med. 2017 Jan 9;12:1. doi: 10.1186/s13029-016-0061-y. eCollection 2017.

12.

Genomic hallmarks of localized, non-indolent prostate cancer.

Fraser M, Sabelnykova VY, Yamaguchi TN, Heisler LE, Livingstone J, Huang V, Shiah YJ, Yousif F, Lin X, Masella AP, Fox NS, Xie M, Prokopec SD, Berlin A, Lalonde E, Ahmed M, Trudel D, Luo X, Beck TA, Meng A, Zhang J, D'Costa A, Denroche RE, Kong H, Espiritu SM, Chua ML, Wong A, Chong T, Sam M, Johns J, Timms L, Buchner NB, Orain M, Picard V, Hovington H, Murison A, Kron K, Harding NJ, P'ng C, Houlahan KE, Chu KC, Lo B, Nguyen F, Li CH, Sun RX, de Borja R, Cooper CI, Hopkins JF, Govind SK, Fung C, Waggott D, Green J, Haider S, Chan-Seng-Yue MA, Jung E, Wang Z, Bergeron A, Dal Pra A, Lacombe L, Collins CC, Sahinalp C, Lupien M, Fleshner NE, He HH, Fradet Y, Tetu B, van der Kwast T, McPherson JD, Bristow RG, Boutros PC.

Nature. 2017 Jan 19;541(7637):359-364. doi: 10.1038/nature20788. Epub 2017 Jan 9.

PMID:
28068672
13.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E; Undiagnosed Diseases Network, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001388. doi: 10.1101/mcs.a001388.

14.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV.

Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.

15.

A bedr way of genomic interval processing.

Haider S, Waggott D, Lalonde E, Fung C, Liu FF, Boutros PC.

Source Code Biol Med. 2016 Dec 15;11:14. doi: 10.1186/s13029-016-0059-5. eCollection 2016. Erratum in: Source Code Biol Med. 2017 Jan 9;12 :1.

16.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

17.

A genome-wide association study of non-HPV-related head and neck squamous cell carcinoma identifies prognostic genetic sequence variants in the MAP-kinase and hormone pathways.

Azad AK, Bairati I, Qiu X, Girgis H, Cheng L, Waggott D, Cheng D, Mirshams M, Ho J, Fortin A, Vigneault E, Huang SH, O'Sullivan B, Waldron J, Boutros PC, Goldstein D, Meyer F, Xu W, Liu G.

Cancer Epidemiol. 2016 Jun;42:173-80. doi: 10.1016/j.canep.2016.05.001. Epub 2016 May 9.

PMID:
27173062
18.

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S, Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA.

PLoS Genet. 2016 Apr 8;12(4):e1005963. doi: 10.1371/journal.pgen.1005963. eCollection 2016 Apr.

19.

Medical implications of technical accuracy in genome sequencing.

Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.

Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.

20.

Sports genetics moving forward: lessons learned from medical research.

Mattsson CM, Wheeler MT, Waggott D, Caleshu C, Ashley EA.

Physiol Genomics. 2016 Mar;48(3):175-82. doi: 10.1152/physiolgenomics.00109.2015. Epub 2016 Jan 12. Review.

PMID:
26757801

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