My Bibliography

select

Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Martínez-Cerdeño V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct;42(10):1606-1614. doi: 10.1038/s41587-023-02057-3. Epub 2024 Jan 2. PubMed PMID: 38168995; NIHMSID:NIHMS1960939.

select

Findley BL, Holeman TA, Brooke BS. Sex Differences in Patient-Reported Depression Following Vascular Surgery Procedures. J Surg Res. 2024 Sep;301:54-61. doi: 10.1016/j.jss.2024.05.038. Epub 2024 Jun 24. PubMed PMID: 38917574; PubMed Central PMCID: PMC11427159.

select

Benck KN, Nesbitt K, Dranow E, Glotzbach JP, Tandar A, Pereira SJ. Transcatheter Aortic Valve Replacement Improves Quality of Life and Ventricular Function With Low-Flow/Low-Gradient Aortic Stenosis. J Soc Cardiovasc Angiogr Interv. 2024 Mar;3(3 Pt A). doi: 10.1016/j.jscai.2023.101266. Epub 2024 Feb 5. PubMed PMID: 38699658; PubMed Central PMCID: PMC11065317.

select

Hooper GA, Butler AM, Guidry D, Kumar N, Brown K, Beninati W, Brown SM, Peltan ID. Relationship Between Resuscitation Team Members' Self-Efficacy and Team Competence During In-Hospital Cardiac Arrest. Crit Care Explor. 2024 Jan;6(1):e1029. doi: 10.1097/CCE.0000000000001029. eCollection 2024 Jan. PubMed PMID: 38259865; PubMed Central PMCID: PMC10803034.

select

Miller TA, Hernandez EJ, Gaynor JW, Russell MW, Newburger JW, Chung W, Goldmuntz E, Cnota JF, Zyblewski SC, Mahle WT, Zak V, Ravishankar C, Kaltman JR, McCrindle BW, Clarke S, Votava-Smith JK, Graham EM, Seed M, Rudd N, Bernstein D, Lee TM, Yandell M, Tristani-Firouzi M. Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. Commun Med (Lond). 2023 Sep 27;3(1):127. doi: 10.1038/s43856-023-00361-2. PubMed PMID: 37758840; PubMed Central PMCID: PMC10533527.

select

Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR. Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ Genom Precis Med. 2023 Jun;16(3):258-266. doi: 10.1161/CIRCGEN.122.003968. Epub 2023 Apr 7. PubMed PMID: 37026454; PubMed Central PMCID: PMC10330096.

select

Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11. PubMed PMID: 37165897; PubMed Central PMCID: PMC10404383.

select

Albertine KH, Dahl MJ, Rebentisch A, Dawson E, Nabi A, Bowen S, Miers C, Wang Z, Yang H, Yu B, Null DM, Keefe D, Chung JK, Zhou Z, Barton N, Carey G, Ward R. Pilot dose-ranging of rhIGF-1/rhIGFBP-3 in a preterm lamb model of evolving bronchopulmonary dysplasia. Pediatr Res. 2023 May;93(6):1528-1538. doi: 10.1038/s41390-022-02272-9. Epub 2022 Aug 27. PubMed PMID: 36030318; PubMed Central PMCID: PMC9968819.

select

Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. PubMed PMID: 36803080; PubMed Central PMCID: PMC10121846.

select

DeAngelo MM, Holeman TA, Peacock JB, Smith BK, Kraiss LW, Hales JB, Maloney M, Brooke BS. Impact of frailty on risk of long-term functional decline following vascular surgery. J Vasc Surg. 2023 Feb;77(2):515-522. doi: 10.1016/j.jvs.2022.08.011. Epub 2022 Aug 22. PubMed PMID: 36007843; PubMed Central PMCID: PMC9868047.

select

Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3. PubMed PMID: 35115709; PubMed Central PMCID: PMC10024604.

select

Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. Am J Hum Genet. 2022 May 5;109(5):961-966. doi: 10.1016/j.ajhg.2022.03.011. Epub 2022 Apr 8. PubMed PMID: 35397206; PubMed Central PMCID: PMC9118105.

select

Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth G. Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. Sci Rep. 2022 Apr 6;12(1):5800. doi: 10.1038/s41598-022-09959-3. PubMed PMID: 35388139; PubMed Central PMCID: PMC8986806.

select

Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Yandell M, Tristani-Firouzi M, Etheridge SP, Webster G, George AL, McNally EM, MacLeod H, Burns KM. Family Screening After Sudden Death in a Population-Based Study of Children. Pediatrics. 2022 Apr 1;149(4). doi: 10.1542/peds.2021-054432. PubMed PMID: 35284934; PubMed Central PMCID: PMC9153292.

select

Wesołowski S, Lemmon G, Hernandez EJ, Henrie A, Miller TA, Weyhrauch D, Puchalski MD, Bray BE, Shah RU, Deshmukh VG, Delaney R, Yost HJ, Eilbeck K, Tristani-Firouzi M, Yandell M. An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records. PLOS Digit Health. 2022;1(1). doi: 10.1371/journal.pdig.0000004. Epub 2022 Jan 18. PubMed PMID: 35373216; PubMed Central PMCID: PMC8975108.

select

Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST, Mak AC, Loos RJ, Kumar R, Kooperberg C, Konkle BA, Kelly S, Kardia SL, Kaplan R, He J, Gui H, Gilliland FD, Gelb BD, Fornage M, Ellinor PT, de Andrade M, Correa A, Chen YI, Boerwinkle E, Barnes KC, Ashley-Koch AE, Arnett DK, Laurie CC, Abecasis G, Nickerson DA, Wilson JG, Rich SS, Levy D, Ruczinski I, Aviv A, Blackwell TW, Thornton T, O'Connell J, Cox NJ, Perry JA, Armanios M, Battle A, Pankratz N, Reiner AP, Mathias RA. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom. 2022 Jan 12;2(1). doi: 10.1016/j.xgen.2021.100084. Epub 2022 Jan 13. PubMed PMID: 35530816; PubMed Central PMCID: PMC9075703.

select

Ward A, Velinder M, Di Sera T, Ekawade A, Malone Jenkins S, Moore B, Mao R, Bayrak-Toydemir P, Marth G. Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. J Pers Med. 2022 Jan 8;12(1). doi: 10.3390/jpm12010073. PubMed PMID: 35055388; PubMed Central PMCID: PMC8780189.

select

Son SL, Hosek LL, Stein MC, Allshouse AA, Catino AB, Hoskoppal AK, Cox DA, Whitehead KJ, Lindsay IM, Esplin S, Metz TD. Association between pregnancy and long-term cardiac outcomes in individuals with congenital heart disease. Am J Obstet Gynecol. 2022 Jan;226(1):124.e1-124.e8. doi: 10.1016/j.ajog.2021.07.015. Epub 2021 Jul 28. PubMed PMID: 34331895; PubMed Central PMCID: PMC8748281.

select

Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth G. Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. Sci Rep. 2021 Oct 13;11(1):20307. doi: 10.1038/s41598-021-99752-5. PubMed PMID: 34645894; PubMed Central PMCID: PMC8514592.

select

DeAngelo MM, Peacock JB, Holeman TA, Maloney M, Beckstrom J, Brooke BS. Long-Term Functional Decline Following Vascular Surgery Among Vulnerable Adults. Ann Vasc Surg. 2021 Oct;76:87-94. doi: 10.1016/j.avsg.2021.04.002. Epub 2021 Apr 22. PubMed PMID: 33895257; PubMed Central PMCID: PMC8531166.

select

Velinder M, Lee D, Marth G. ped_draw: pedigree drawing with ease. BMC Bioinformatics. 2020 Dec 9;21(1):569. doi: 10.1186/s12859-020-03917-4. PubMed PMID: 33297934; PubMed Central PMCID: PMC7727153.

select

Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 Nov;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PubMed PMID: 33216750; PubMed Central PMCID: PMC7679001.

select

Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth G. gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. medRxiv. 2020 Nov 6;. doi: 10.1101/2020.11.05.20224865. PubMed PMID: 33173897; PubMed Central PMCID: PMC7654889.

select

Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 Oct 15;9. doi: 10.7554/eLife.53278. PubMed PMID: 33054971; PubMed Central PMCID: PMC7593088.

select

Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. PubMed PMID: 32601476; PubMed Central PMCID: PMC7415662.

select

Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA Jr, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE Jr, Newburger JW, Seidman CE. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 Aug;13(4):e002836. doi: 10.1161/CIRCGEN.119.002836. Epub 2020 Jun 30. PubMed PMID: 32812804; PubMed Central PMCID: PMC7439931.

select

Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1. PubMed PMID: 32349777; PubMed Central PMCID: PMC7189690.

select

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. PubMed PMID: 31388190; PubMed Central PMCID: PMC8900827.

select

Sevim Bayrak C, Zhang P, Tristani-Firouzi M, Gelb BD, Itan Y. De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. Genome Med. 2020 Jan 15;12(1):9. doi: 10.1186/s13073-019-0709-8. PubMed PMID: 31941532; PubMed Central PMCID: PMC6961332.

select

Ekawade A, Velinder M, Ward A, DiSera T, Miller C, Qiao Y, Marth G. Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists. BMC Med Genomics. 2019 Dec 11;12(1):190. doi: 10.1186/s12920-019-0641-1. PubMed PMID: 31829207; PubMed Central PMCID: PMC6907284.

select

Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y. PubMed PMID: 31624253; PubMed Central PMCID: PMC6797711.

select

Hirschi R, Hawryluk GWJ, Nielson JL, Huie JR, Zimmermann LL, Saigal R, Ding Q, Ferguson AR, Manley G. Analysis of high-frequency PbtO2 measures in traumatic brain injury: insights into the treatment threshold. J Neurosurg. 2019 Oct 1;131(4):1216-1226. doi: 10.3171/2018.4.JNS172604. Print 2019 Oct 1. PubMed PMID: 30497191; PubMed Central PMCID: PMC8979548.

select

Salazar-Fajardo PD, Aréchiga-Figueroa IA, López-Serrano AL, Rodriguez-Elias JC, Alamilla J, Sánchez-Chapula JA, Tristani-Firouzi M, Navarro-Polanco RA, Moreno-Galindo EG. The voltage-sensitive cardiac M(2) muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K(+) current. Pflugers Arch. 2018 Dec;470(12):1765-1776. doi: 10.1007/s00424-018-2196-y. Epub 2018 Aug 28. PubMed PMID: 30155776.

select

Moss R, Sachse FB, Moreno-Galindo EG, Navarro-Polanco RA, Tristani-Firouzi M, Seemann G. Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function. PLoS Comput Biol. 2018 Oct;14(10):e1006438. doi: 10.1371/journal.pcbi.1006438. eCollection 2018 Oct. PubMed PMID: 30303952; PubMed Central PMCID: PMC6197694.

select

Nourian MM, Schwartz AL, Stevens A, Scaife ER, Bucher BT. Clearance of tunneled central venous catheter associated blood stream infections in children. J Pediatr Surg. 2018 Sep;53(9):1839-1842. doi: 10.1016/j.jpedsurg.2017.12.010. Epub 2017 Dec 24. PubMed PMID: 29397962; PubMed Central PMCID: PMC6015769.

select

Biber J, Ose D, Reese J, Gardiner A, Facelli J, Spuhl J, Brodke D, Lee VS, Hess R, Weeks H. Patient reported outcomes - experiences with implementation in a University Health Care setting. J Patient Rep Outcomes. 2017;2:34. doi: 10.1186/s41687-018-0059-0. eCollection 2017. PubMed PMID: 30175316; PubMed Central PMCID: PMC6097980.

select

Skarsfeldt MA, Bomholtz SH, Lundegaard PR, Lopez-Izquierdo A, Tristani-Firouzi M, Bentzen BH. Atrium-specific ion channels in the zebrafish-A role of I(KACh) in atrial repolarization. Acta Physiol (Oxf). 2018 Jul;223(3):e13049. doi: 10.1111/apha.13049. Epub 2018 Feb 27. PubMed PMID: 29412518.

select

Saarel EV, Granger S, Kaltman JR, Minich LL, Tristani-Firouzi M, Kim JJ, Ash K, Tsao SS, Berul CI, Stephenson EA, Gamboa DG, Trachtenberg F, Fischbach P, Vetter VL, Czosek RJ, Johnson TR, Salerno JC, Cain NB, Pass RH, Zeltser I, Silver ES, Kovach JR, Alexander ME. Electrocardiograms in Healthy North American Children in the Digital Age. Circ Arrhythm Electrophysiol. 2018 Jul;11(7):e005808. doi: 10.1161/CIRCEP.117.005808. PubMed PMID: 29930156; PubMed Central PMCID: PMC6034977.

select

Yamashita K, Quang C, Schroeder JD, DiBella E, Han F, MacLeod R, Dosdall DJ, Ranjan R. Distance between the left atrium and the vertebral body is predictive of esophageal movement in serial MR imaging. J Interv Card Electrophysiol. 2018 Jul;52(2):149-156. doi: 10.1007/s10840-018-0348-9. Epub 2018 Mar 12. PubMed PMID: 29532276; PubMed Central PMCID: PMC6033656.

select

Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22. PubMed PMID: 29527824; PubMed Central PMCID: PMC6022753.

select

Villatoro-Gómez K, Pacheco-Rojas DO, Moreno-Galindo EG, Navarro-Polanco RA, Tristani-Firouzi M, Gazgalis D, Cui M, Sánchez-Chapula JA, Ferrer T. Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline. Biochem Pharmacol. 2018 Jun;152:264-271. doi: 10.1016/j.bcp.2018.03.016. Epub 2018 Apr 3. PubMed PMID: 29621539.

select

Weber LM, McDonald J, Whitehead K. Vitamin D levels are associated with epistaxis severity and bleeding duration in hereditary hemorrhagic telangiectasia. Biomark Med. 2018 Apr;12(4):365-371. doi: 10.2217/bmm-2017-0229. Epub 2018 Mar 14. PubMed PMID: 29537299; PubMed Central PMCID: PMC6367804.

select

Ramroop R, Manase G, Lu D, Manase D, Chen S, Kim R, Lee T, Mahle WT, McHugh K, Mitchell M, Tristani-Firouzi M, Wechsler SB, Wilder NS, Zak V, Lafreniere-Roula M, Newburger JW, Gaynor JW, Russell MW, Mital S. Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial. J Thorac Cardiovasc Surg. 2017 Nov;154(5):1703-1710.e3. doi: 10.1016/j.jtcvs.2017.06.041. Epub 2017 Jun 24. PubMed PMID: 28734628; PubMed Central PMCID: PMC5647218.

select

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. PubMed PMID: 28991257; PubMed Central PMCID: PMC5675000.

select

Letsinger J, Rommel C, Hirschi R, Nirula R, Hawryluk GWJ. The aggressiveness of neurotrauma practitioners and the influence of the IMPACT prognostic calculator. PLoS One. 2017;12(8):e0183552. doi: 10.1371/journal.pone.0183552. eCollection 2017. PubMed PMID: 28832674; PubMed Central PMCID: PMC5568296.

select

Jou CJ, Arrington CB, Barnett S, Shen J, Cho S, Sheng X, McCullagh PC, Bowles NE, Pribble CM, Saarel EV, Pilcher TA, Etheridge SP, Tristani-Firouzi M. A Functional Assay for Sick Sinus Syndrome Genetic Variants. Cell Physiol Biochem. 2017;42(5):2021-2029. doi: 10.1159/000479897. Epub 2017 Aug 11. PubMed PMID: 28803248.

select

Shankaran SS, Dahlem TJ, Bisgrove BW, Yost HJ, Tristani-Firouzi M. CRISPR/Cas9-Directed Gene Editing for the Generation of Loss-of-Function Mutants in High-Throughput Zebrafish F(0) Screens. Curr Protoc Mol Biol. 2017 Jul 5;119:31.9.1-31.9.22. doi: 10.1002/cpmb.42. PubMed PMID: 28678442; PubMed Central PMCID: PMC7194136.

select

Seidel T, Navankasattusas S, Ahmad A, Diakos NA, Xu WD, Tristani-Firouzi M, Bonios MJ, Taleb I, Li DY, Selzman CH, Drakos SG, Sachse FB. Sheet-Like Remodeling of the Transverse Tubular System in Human Heart Failure Impairs Excitation-Contraction Coupling and Functional Recovery by Mechanical Unloading. Circulation. 2017 Apr 25;135(17):1632-1645. doi: 10.1161/CIRCULATIONAHA.116.024470. Epub 2017 Jan 10. PubMed PMID: 28073805; PubMed Central PMCID: PMC5404964.

select

Mitzelfelt KA, McDermott-Roe C, Grzybowski MN, Marquez M, Kuo CT, Riedel M, Lai S, Choi MJ, Kolander KD, Helbling D, Dimmock DP, Battle MA, Jou CJ, Tristani-Firouzi M, Verbsky JW, Benjamin IJ, Geurts AM. Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection. Stem Cell Reports. 2017 Mar 14;8(3):491-499. doi: 10.1016/j.stemcr.2017.01.021. Epub 2017 Feb 24. PubMed PMID: 28238794; PubMed Central PMCID: PMC5355643.

select

Lesniewski LA, Seals DR, Walker AE, Henson GD, Blimline MW, Trott DW, Bosshardt GC, LaRocca TJ, Lawson BR, Zigler MC, Donato AJ. Dietary rapamycin supplementation reverses age-related vascular dysfunction and oxidative stress, while modulating nutrient-sensing, cell cycle, and senescence pathways. Aging Cell. 2017 Feb;16(1):17-26. doi: 10.1111/acel.12524. Epub 2016 Sep 22. PubMed PMID: 27660040; PubMed Central PMCID: PMC5242306.