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Items: 1 to 20 of 406

1.

Fine-Tuning of PGC1α Expression Regulates Cardiac Function and Longevity.

Zhu X, Shen W, Yao K, Wang H, Liu B, Li T, Song L, Diao D, Mao G, Huang P, Li C, Zhang H, Zou Y, Qiu Y, Zhao Y, Wang W, Yang Y, Hu Z, Auwerx J, Loscalzo J, Zhou Y, Ju Z.

Circ Res. 2019 Aug 15. doi: 10.1161/CIRCRESAHA.119.315529. [Epub ahead of print]

PMID:
31412728
2.

Network medicine and type 2 diabetes mellitus: insights into disease mechanism and guide to precision medicine.

Loscalzo J.

Endocrine. 2019 Aug 13. doi: 10.1007/s12020-019-02042-4. [Epub ahead of print] Review.

PMID:
31410748
3.

A genome-wide positioning systems network algorithm for in silico drug repurposing.

Cheng F, Lu W, Liu C, Fang J, Hou Y, Handy DE, Wang R, Zhao Y, Yang Y, Huang J, Hill DE, Vidal M, Eng C, Loscalzo J.

Nat Commun. 2019 Aug 2;10(1):3476. doi: 10.1038/s41467-019-10744-6.

4.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18.

PMID:
31327508
5.

The Undiagnosed Diseases Network as a tool for graduate medical education.

Aday AW, Krier JB, MMSc, Pallais JC, Fieg EL, MacRae CA, Loscalzo J; Members of the UDN.

Am J Med. 2019 Jul 10. pii: S0002-9343(19)30569-8. doi: 10.1016/j.amjmed.2019.06.034. [Epub ahead of print] No abstract available.

PMID:
31301294
6.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A.

Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.

PMID:
31264822
7.

Metabolic Responses to Reductive Stress.

Xiao W, Loscalzo J.

Antioxid Redox Signal. 2019 Jul 18. doi: 10.1089/ars.2019.7803. [Epub ahead of print]

PMID:
31218894
8.

A Disturbing Decline.

Braun DA, Henderson GV, Sax PE, Miller AL, Loscalzo J.

N Engl J Med. 2019 Jun 6;380(23):2257-2262. doi: 10.1056/NEJMcps1807619. No abstract available.

PMID:
31167056
9.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
10.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.

PMID:
31155284
11.

Systems pharmacogenomics - gene, disease, drug and placebo interactions: a case study in COMT.

Hall KT, Loscalzo J, Kaptchuk TJ.

Pharmacogenomics. 2019 May;20(7):529-551. doi: 10.2217/pgs-2019-0001.

PMID:
31124409
12.

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.

Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25.

13.

Network Medicine in Pathobiology.

Lee LY, Loscalzo J.

Am J Pathol. 2019 Jul;189(7):1311-1326. doi: 10.1016/j.ajpath.2019.03.009. Epub 2019 Apr 20. Review.

PMID:
31014954
14.

Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week.

Maron BJ, Maron MS, Maron BA, Loscalzo J.

J Am Coll Cardiol. 2019 Apr 23;73(15):1978-1986. doi: 10.1016/j.jacc.2019.01.061. Review.

PMID:
31000001
15.

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 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.

16.

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.

J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119. Erratum in: J Genet Couns. 2019 May 21;:.

PMID:
30964584
17.

A Dangerous Detour.

Berg DD, Kirshenbaum JM, Gay E, Miller AL, Loscalzo J.

N Engl J Med. 2019 Apr 4;380(14):1360-1365. doi: 10.1056/NEJMcps1803916. No abstract available.

PMID:
30943341
18.

Precision Medicine.

Loscalzo J.

Circ Res. 2019 Mar 29;124(7):987-989. doi: 10.1161/CIRCRESAHA.119.314403. No abstract available.

PMID:
30920923
19.

A Dangerous Detour.

Berg DD, Kirshenbaum J, Gay E, Vaidya A, Loscalzo J.

N Engl J Med. 2019 Mar 28;380(13):e18. doi: 10.1056/NEJMimc1804660. No abstract available.

PMID:
30917263
20.

Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.

Silverman EK, Allard P, Loscalzo J, Mulvihill JJ, Korrick SA; Undiagnosed Diseases Network.

Am J Med Genet A. 2019 Jun;179(6):958-965. doi: 10.1002/ajmg.a.61132. Epub 2019 Mar 23.

PMID:
30903737

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