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Items: 1 to 20 of 417

1.

Facing Uncertainty.

Thomas C, Vleugels RA, Kwiatkowski DJ, Levy B, Loscalzo J.

N Engl J Med. 2019 Dec 5;381(23):2253-2259. doi: 10.1056/NEJMcps1906037. No abstract available.

PMID:
31800992
2.

Identification of Racial Inequities in Access to Specialized Inpatient Heart Failure Care at an Academic Medical Center.

Eberly LA, Richterman A, Beckett AG, Wispelwey B, Marsh RH, Cleveland Manchanda EC, Chang CY, Glynn RJ, Brooks KC, Boxer R, Kakoza R, Goldsmith J, Loscalzo J, Morse M, Lewis EF, Abel S, Adams A, Anaya J, Andrews EH, Atkinson B, Avutu V, Bachorik A, Badri O, Bailey M, Baird K, Bakshi S, Balaban D, Barshop K, Baumrin E, Bayomy O, Beamesderfer J, Becker N, Berg DD, Berman AN, Blum SM, Boardman AP, Boden K, Bonacci RA, Brown S, Campbell K, Case S, Cetrone E, Charrow A, Chiang D, Clark D, Cohen AJ, Cooper A, Cordova T, Cuneo CN, de Feria AA, Deffenbacher K, DeFilippis EM, DeGregorio G, Deutsch AJ, Diephuis B, Divakaran S, Dorschner P, Downing N, Drescher C, D'Silva KM, Dunbar P, Duong D, Earp S, Eckhardt C, Elman SA, England R, Everett K, Fedotova N, Feingold-Link T, Ferreira M, Fisher H, Foo P, Foote M, Franco I, Gilliland T, Greb J, Greco K, Grewal S, Grin B, Growdon ME, Guercio B, Hahn CK, Hasselfeld B, Haydu EJ, Hermes Z, Hildick-Smith G, Holcomb Z, Holroyd K, Horton L, Huang G, Jablonski S, Jacobs D, Jain N, Japa S, Joseph R, Kalashnikova M, Kalwani N, Kang D, Karan A, Katz JT, Kellner D, Kidia K, Kim JH, Knowles SM, Kolbe L, Kore I, Koullias Y, Kuye I, Lang J, Lawlor M, Lechner MG, Lee K, Lee S, Lee Z, Limaye N, Lin-Beckford S, Lipsyc M, Little J, Loewenthal J, Logaraj R, Lopez DM, Loriaux D, Lu Y, Ma K, Marukian N, Matias W, Mayers JR, McConnell I, McLaughlin M, Meade C, Meador C, Mehta A, Messenger E, Michaelidis C, Mirsky J, Mitten E, Mueller A, Mullur J, Munir A, Murphy E, Nagami E, Natarajan A, Nsahlai M, Nze C, Okwara N, Olds P, Paez R, Pardo M, Patel S, Petersen A, Phelan L, Pimenta E, Pipilas D, Plovanich M, Pong D, Powers BW, Rao A, Ramirez Batlle H, Ramsis M, Reichardt A, Reiger S, Rengarajan M, Rico S, Rome BN, Rosales R, Rotenstein L, Roy A, Royston S, Rozansky H, Rudder M, Ryan CE, Salgado S, Sanchez P, Schulte J, Sekar A, Semenkovich N, Shannon E, Shaw N, Shorten AB, Shrauner W, Sinnenberg L, Smithy JW, Snyder G, Sreekrishnan A, Stabenau H, Stavrou E, Stergachis A, Stern R, Stone A, Tabrizi S, Tanyos S, Thomas C, Thun H, Torres-Lockhart K, Tran A, Treasure C, Tsai FD, Tsaur S, Tschirhart E, Tuwatananurak J, Venkateswaran RV, Vishnevetsky A, Wahl L, Wall A, Wallace F, Walsh E, Wang P, Ward HB, Warner LN, Weeks LD, Weiskopf K, Wengrod J, Williams JN, Winkler M, Wong JL, Worster D, Wright A, Wunsch C, Wynter JS, Yarbrough C, Yau WY, Yazdi D, Yeh J, Yialamas MA, Yozamp N, Zambrotta M, Zon R.

Circ Heart Fail. 2019 Nov;12(11):e006214. doi: 10.1161/CIRCHEARTFAILURE.119.006214. Epub 2019 Oct 29.

PMID:
31658831
3.

VarSight: prioritizing clinically reported variants with binary classification algorithms.

Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network, Worthey EA.

BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8.

4.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
5.

The Element of Surprise.

Vallurupalli M, Divakaran S, Parnes A, Levy BD, Loscalzo J.

N Engl J Med. 2019 Oct 3;381(14):1365-1371. doi: 10.1056/NEJMcps1811547. No abstract available.

PMID:
31577880
6.

Visualizing RNA dynamics in live cells with bright and stable fluorescent RNAs.

Chen X, Zhang D, Su N, Bao B, Xie X, Zuo F, Yang L, Wang H, Jiang L, Lin Q, Fang M, Li N, Hua X, Chen Z, Bao C, Xu J, Du W, Zhang L, Zhao Y, Zhu L, Loscalzo J, Yang Y.

Nat Biotechnol. 2019 Nov;37(11):1287-1293. doi: 10.1038/s41587-019-0249-1. Epub 2019 Sep 23.

PMID:
31548726
7.

Drug-Placebo Additivity in Randomized Clinical Trials.

Hall KT, Loscalzo J.

Clin Pharmacol Ther. 2019 Dec;106(6):1191-1197. doi: 10.1002/cpt.1626. Epub 2019 Oct 26.

PMID:
31502253
8.

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 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

9.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT.

J Genet Couns. 2019 Dec;28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3.

PMID:
31478310
10.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
11.

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.

Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.

PMID:
31439813
12.

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 Sep 13;125(7):707-719. doi: 10.1161/CIRCRESAHA.119.315529. Epub 2019 Aug 15.

PMID:
31412728
13.

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

Loscalzo J.

Endocrine. 2019 Dec;66(3):456-459. doi: 10.1007/s12020-019-02042-4. Epub 2019 Aug 13. Review.

PMID:
31410748
14.

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.

15.

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. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
16.

The Undiagnosed Diseases Network as a Tool for Graduate Medical Education.

Aday AW, Krier JB, 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
17.

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
18.

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
19.

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
20.

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.

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