Selected Publications

The roots of (in)equity in precision medicine: gaps in the discourse. Green S, Prainsack B, Sabatello M. Future Medicine. 13 December 2023.

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel. Kong XF, Bogyo K, Kapoor S, Shea PR, Groopman EE, Thomas-Wilson A, Cocchi E, Milo Rasouly H, Zheng B, Sun S, Zhang J, Martinez M, Vittorio JM, Dove LM, Marasa M, Wang TC, Verna EC, Worman HJ, Gharavi AG, Goldstein DB, Wattacheril J. Scientific Reports. 6 December 2023.

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease. Dahl NK, Bloom MS, Chebib FT, Clark D, Westemeyer M, Jandeska S, Zhang Z, Milo-Rasouly H, Kolupaeva V, Marasa M, Broumand V, Fatica RA, Raj DS, Demko ZP, Marshall K, Punj S, Tabriziani H, Bhorade S, Gharavi AG. Journal of the American Society of Nephrology. 1 December 2023.

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Nature Communications. 30 November 2023.

Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. Casillan A, Florido ME, Galarza-Cornejo J, Bakken S, Lynch JA, Chung WK, Mittendorf KF, Berner ES, Connolly JJ, Weng C, Holm IA, Khan A, Kiryluk K, Limdi NA, Petukhova L, Sabatello M, Wynn J. Journal of the American Medical Informatics Association. 19 October 2023.

The need for an intersectionality framework in precision medicine research. Sabatello, M, Diggs-Yang, G., Santiago, A., Easter, C., Jacoby Morris, K., Hollister, B.M., Hahn, M., Baker, K. McCorimick, A., Greene-Moton, E., Daulton, C., Goto, G. Am J Hum Genet. 5 October 2023.

Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Martino J, Liu Q, Vukojevic K, Ke J, Lim TY, Khan A, Gupta Y, Perez A, Yan Z, Milo Rasouly H, Vena N, Lippa N, Giordano JL, Saraga M, Saraga-Babic M, Westland R, Bodria M, Piaggio G, Bendapudi PK, Iglesias AD, Wapner RJ, Tasic V, Wang F, Ionita-Laza I, Ghiggeri GM, Kiryluk K, Sampogna RV, Mendelsohn CL, D'Agati VD, Gharavi AG, Sanna-Cherchi S. Genetics in Medicine. 21 September 2023.

Underrepresentation of blind and deaf participants in the All of Us Research Program. Lewis V C, Huebner J, Hripcsak G, Sabatello M. Nature Medicine. 21 September 2023.

Social and behavioral genomics: What does it mean for Pediatrics? Martschenko, D.O., Matthews, L.J., Sabatello, M. J Pediatr. 16 September 2023.

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Gupta Y, Friedman DJ, McNulty M, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. medRxiv. 4 August 2023.

Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. Jungels, A., Demers, L., Ford, E., Stevens, B.K., Sabatello, M., Dasgupta, S. HGG Adv. 1 August 2023.

Studying the impact of translational genomic research: Lessons from eMERGE. Clayton EW, Smith ME, Anderson KC, Chung WK, Connolly JJ, Fullerton SM, McGowan ML, Peterson JF, Prows CA, Sabatello M, Holm IA. AM J Hum Genet. 6 July 2023.

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, Trimarchi H, Sprangers B, Cattran DC, Reich H, Pei Y, Ravani P, Galesic K, Maixnerova D, Tesar V, Stengel B, Metzger M, Canaud G, Maillard N, Berthoux F, Berthelot L, Pillebout E, Monteiro R, Nelson R, Wyatt RJ, Smoyer W, Mahan J, Samhar AA, Hidalgo G, Quiroga A, Weng P, Sreedharan R, Selewski D, Davis K, Kallash M, Vasylyeva TL, Rheault M, Chishti A, Ranch D, Wenderfer SE, Samsonov D, Claes DJ, Akchurin O, Goumenos D, Stangou M, Nagy J, Kovacs T, Fiaccadori E, Amoroso A, Barlassina C, Cusi D, Del Vecchio L, Battaglia GG, Bodria M, Boer E, Bono L, Boscutti G, Caridi G, Lugani F, Ghiggeri G, Coppo R, Peruzzi L, Esposito V, Esposito C, Feriozzi S, Polci R, Frasca G, Galliani M, Garozzo M, Mitrotti A, Gesualdo L, Granata S, Zaza G, Londrino F, Magistroni R, Pisani I, Magnano A, Marcantoni C, Messa P, Mignani R, Pani A, Ponticelli C, Roccatello D, Salvadori M, Salvi E, Santoro D, Gembillo G, Savoldi S, Spotti D, Zamboli P, Izzi C, Alberici F, Delbarba E, Florczak M, Krata N, Mucha K, Pączek L, Niemczyk S, Moszczuk B, Pańczyk-Tomaszewska M, Mizerska-Wasiak M, Perkowska-Ptasińska A, Bączkowska T, Durlik M, Pawlaczyk K, Sikora P, Zaniew M, Kaminska D, Krajewska M, Kuzmiuk-Glembin I, Heleniak Z, Bullo-Piontecka B, Liberek T, Dębska-Slizien A, Hryszko T, Materna-Kiryluk A, Miklaszewska M, Szczepańska M, Dyga K, Machura E, Siniewicz-Luzeńczyk K, Pawlak-Bratkowska M, Tkaczyk M, Runowski D, Kwella N, Drożdż D, Habura I, Kronenberg F, Prikhodina L, van Heel D, Fontaine B, Cotsapas C, Wijmenga C, Franke A, Annese V, Gregersen PK, Parameswaran S, Weirauch M, Kottyan L, Harley JB, Suzuki H, Narita I, Goto S, Lee H, Kim DK, Kim YS, Park JH, Cho B, Choi M, Van Wijk A, Huerta A, Ars E, Ballarin J, Lundberg S, Vogt B, Mani LY, Caliskan Y, Barratt J, Abeygunaratne T, Kalra PA, Gale DP, Panzer U, Rauen T, Floege J, Schlosser P, Ekici AB, Eckardt KU, Chen N, Xie J, Lifton RP, Loos RJF, Kenny EE, Ionita-Laza I, Köttgen A, Julian BA, Novak J, Scolari F, Zhang H, Gharavi AG. Nature Genetics. 19 June 2023.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Ahram DF, Lim TY, Ke J, Jin G, Verbitsky M, Bodria M, Kil BH, Chatterjee D, Piva SE, Marasa M, Zhang JY, Cocchi E, Caridi G, Gucev Z, Lozanovski VJ, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone VP, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel GB, Uy NS, Rao MK, Canetta PA, Bomback AS, Nestor JG, Hays T, Cohen DJ, Finale C, Wijk JAEV, La Scola C, Baraldi O, Tondolo F, Di Renzo D, Jamry-Dziurla A, Pezzutto A, Manca V, Mitrotti A, Santoro D, Conti G, Martino M, Giordano M, Gesualdo L, Zibar L, Masnata G, Bonomini M, Alberti D, La Manna G, Caliskan Y, Ranghino A, Marzuillo P, Kiryluk K, Krzemień G, Miklaszewska M, Lin F, Montini G, Scolari F, Fiaccadori E, Arapović A, Saraga M, McKiernan J, Alam S, Zaniew M, Szczepańska M, Szmigielska A, Sikora P, Drożdż D, Mizerska-Wasiak M, Mane S, Lifton RP, Tasic V, Latos-Bielenska A, Gharavi AG, Ghiggeri GM, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Journal of the American Society of Nephrology. 1 June 2023.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease. Marasa M, Ahram DF, Rehman AU, Mitrotti A, Abhyankar A, Jain NG, Weng PL, Piva SE, Fernandez HE, Uy NS, Chatterjee D, Kil BH, Nestor JG, Felice V, Robinson D, Whyte D, Gharavi AG, Appel GB, Radhakrishnan J, Santoriello D, Bomback A, Lin F, D'Agati VD, Jobanputra V, Sanna-Cherchi S. Kidney International Reports. 26 May 2023.

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Connolly, J.J., Berner, E.S., Smith, M., Levy, S., Terek, S., Harr, M., Karavite, D., Suckiel, S., Holm, I.A., Dufendach, K., Nelson, C., Khan, A., Chisholm, R.L., Allworth, A., Wei, W-Q., Bland, S.T., Clayton, E.W., Soper, E.R., Linder, J.E., Limdi, N.A., Miller, A., Nigbur, S., Bangash, H., Hamed, M., Sherafati, A., Lewis, A., Perez, E., Orlando, L.A., Rakhra-Burris, T.K., Al-Dulaimi, M., Cifric, S., Scherr, C.L., Wynn, J., Hakonarson, H., Sabatello, M. Genet. Med. 26 May 2023.

Precision medicine and the problem of structural injustice. Green S, Prainsack B, Sabatello M. Med Health Care Philos. 25 May 2023.

Polygenic risk affects the penetrance of monogenic kidney disease. Khan A, Shang N, Nestor JG, Weng C, Hripcsak G, Harris PC, Gharavi AG, Kiryluk K. medRxiv. 10 May 2023.

How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? Moorthy T, Nguyen H, Chen Y, Austin J, Smoller JW, Hercher L, Sabatello M. Am J Med Genet B Neuropsychiatr Genet. 9 May 2023.

Emerging Genetic Insight into ATIN. Khan A, Gharavi AG. Journal of the American Society of Nephrology. 1 May 2023.

Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes. Elliott MD, Marasa M, Cocchi E, Vena N, Zhang JY, Khan A, Krishna Murthy S, Bheda S, Milo Rasouly H, Povysil G, Kiryluk K, Gharavi AG. Journal of the American Society of Nephrology. 1 May 2023.

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Milo Rasouly H, Balderes O, Marasa M, Fernandez H, Lipton M, Lin F, Gharavi AG, Sabatello M. Genet Med. May 2023.

The value of intersectionality for genomic research on human behavior. Matthews LJ, Martschenko DO, Sabatello M. Genet Med. 20 April 2023.

Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices. Thomas CP, Daloul R, Lentine KL, Gohh R, Anand PM, Rasouly HM, Sharfuddin AA, Schlondorff JS, Rodig NM, Freese ME, Garg N, Lee BK, Caliskan Y. AM J Transplant. 1 March 2023.

Genetics of Kidney Disease: The Unexpected Role of Rare Disorders. Elliott MD, Rasouly HM, Gharavi AG. Annual Review of Medicine. 27 January 2023.

People with disability and privacy in precision medicine research: what's at stake? Kapur SL, Sabatello M. Trends Genet. 25 January 2023.

Returning integrated genomic risk and clinical recommendations: The eMERGE study. Linder JE, Allworth A, Bland ST, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K Genet Med. 6 January 2023.

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis. Zhang D, Newton CA, Wang B, Povysil G, Noth I, Martinez FJ, Raghu G, Goldstein D, Garcia CK. Eur Respir J. 22 December 2022.

GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies. He Z, Liu L, Belloy ME, Le Guen Y, Sossin A, Liu X, Qi X, Ma S, Gyawali PK, Wyss-Coray T, Tang H, Sabatti C, Candès E, Greicius MD, Ionita-Laza I. Nat Commun. 23 November 2022.

Genetics of Kidney Disease: The Unexpected Role of Rare Disorders. Elliott MD, Rasouly HM, Gharavi AG. Annu Rev Med. 14 November 2022.

Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits. Liu L, Khan A, Sanchez-Rodriguez E, Zanoni F, Li Y, Steers N, Balderes O, Zhang J, Krithivasan P, LeDesma RA, Fischman C, Hebbring SJ, Harley JB, Moncrieffe H, Kottyan LC, Namjou-Khales B, Walunas TL, Knevel R, Raychaudhuri S, Karlson EW, Denny JC, Stanaway IB, Crosslin D, Rauen T, Floege J, Eitner F, Moldoveanu Z, Reily C, Knoppova B, Hall S, Sheff JT, Julian BA, Wyatt RJ, Suzuki H, Xie J, Chen N, Zhou X, Zhang H, Hammarström L, Viktorin A, Magnusson PKE, Shang N, Hripcsak G, Weng C, Rundek T, Elkind MSV, Oelsner EC, Barr RG, Ionita-Laza I, Novak J, Gharavi AG, Kiryluk K. Nat Commun. 11 November 2022.

Genomic Disorders in CKD across the Lifespan. Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. J Am Soc Nephrol. 27 October 2022.

Data sharing and community-engaged research. Sabatello M, Martschenko DO, Cho MK, Brothers KB. Science. 14 October 2022.

Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry. Zhang D, Povysil G, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Platt A, Petrovski S, Goldstein DB, Garcia CK. Am J Respir Crit Care Med. 1 October 2022.

KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design. Yang Y, Wang C, Liu L, Buxbaum J, He Z, Ionita-Laza I. Am J Hum Genet. 22 September 2022.

The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants. Hays T, Thompson MV, Bateman DA, Sahni R, Tolia VN, Clark RH, Gharavi AG. JAMA Netw Open. 1 September 2022.

Addressing underrepresentation in genomics research through community engagement. Lemke AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, Hanchard NA, Harris-Wai J, Ideozu JE, Isasi R, Landstrom AP, Prince AER, Turbitt E, Sabatello M, Schrier Vergano SA, Taylor MRG, Yu JH, Brothers KB, Garrison NA. Am J Hum Genet. 1 September 2022.

Eligibility criteria in NIH-funded clinical trials: Can adults with intellectual disability get in? McDonald, K, Schwartz, A, Sabatello, M. Disabil Health J. 20 August 2022.

Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits Lencz T, Sabatello M, Docherty A, Peterson RE, Soda T, Austin J, Bierut L, Crepaz-Keay D, Curtis D, Degenhardt F, Huckins L, Lazaro-Munoz G, Mattheisen M, Meiser B, Peay H, Rietschel M, Walss-Bass C, Davis LK. Lancet Psychiatry. 2 August 2022.

Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis Zhang D, Povysil G, Kobeissy PH, Li Q, Wang B, Amelotte M, Jaouadi H, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Haefliger C, Platt A, Petrovski S, Garcia JA, Goldstein DB, Garcia CK. Am J Respir Crit Care Med. 1 July 2022.

Wrongful Birth: AI-Tools for Moral Decisions in Clinical Care in the Absence of Disability Ethics Sabatello M. Am J Bioeth. 23 June 2022.

Genome-wide polygenic score to predict chronic kidney disease across ancestries. Khan A, Turchin MC, Patki A, Srinivasasainagendra V, Shang N, Nadukuru R, Jones AC, Malolepsza E, Dikilitas O, Kullo IJ, Schaid DJ, Karlson E, Ge T, Meigs JB, Smoller JW, Lange C, Crosslin DR, Jarvik GP, Bhatraju PK, Hellwege JN, Chandler P, Torvik LR, Fedotov A, Liu C, Kachulis C, Lennon N, Abul-Husn NS, Cho JH, Ionita-Laza I, Gharavi AG, Chung WK, Hripcsak G, Weng C, Nadkarni G, Irvin MR, Tiwari HK, Kenny EE, Limdi NA, Kiryluk K. Nat Med. 16 June 2022.

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Monga I, Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM. Nat Commun. 10 February 2022.

Increasing Inclusivity in Precision Medicine Research: Views of Deaf and Hard of Hearing Individuals. Garofalo DC, Rosenblum HA, Zhang Y, Chen Y, Appelbaum PS, Sabatello M. Genet Med. 20 December 2021.

GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2 Locus. Steers NJ, Gupta Y, D'Agati VD, Lim TY, DeMaria N, Mo A, Liang J, Stevens KO, Ahram DF, Lam WY, Gagea M, Nagarajan L, Sanna-Cherchi S, Gharavi AG. J Am Soc Nephrol. 10 December 2021.

Nature vs. Nurture in Precision Education: Insights of Parents and the Public. Sabatello M, Martin B, Corbeil T, Lee S, Link BG, Appelbaum PS. AJOB Empir Bioeth. 13 October 2021.

Psychiatric genetic essentialism and stigma in child custody proceedings: public views. Sabatello M, Chao A, Insel BJ, Corbeil T, Link BG, Appelbaum PS. J Law Biosci. 26 August 2021.

Project Inclusive Genetics: Exploring the impact of patient-centered counseling training on physical disability bias in the prenatal setting. Vaimberg E, Demers L, Ford E, Sabatello M, Stevens B, Dasgupta S. PLOS One. 5 August 2021.

A semisupervised model to predict regulatory effects of genetic variants at single nucleotide resolution using massively parallel reporter assays. Zikun Yang, Chen Wang, Stephanie Erjavec, Lynn Petukhova, Angela Christiano, Iuliana Ionita-Laza. Bioinformatics. 15 July 2021.

The Impact of Genetic Testing for Cardiomyopathy on Emotional Well-being and Family Dynamics: A Study of Parents and Adolescents. Ahimaz P, Sabatello M, Qian M, Wang A, Miller EM, Parrott A, Lal AK, Chatfield KC, Rossano JW, Ware SM, Parent JJ, Kantor P, Yue L, Wynn J, Lee TM, Addonizio LJ, Appelbaum PS, Chung WK. Circ Genom Precis Med. 13 July 2021.

Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply. Gundula Povysil, Guillaume Butler-Laporte, Ali G. Gharavi, J. Brent Richards, David B. Goldstein and Krzysztof Kiryluk. Journal of Clinical Investigation. 22 June 2021.

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi,Sirui Zhou, Vincenzo Forgetta, Robert J.M. Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J.M. Jones, Bartha Knoppers, Stephen W. Scherer, Lisa J. Strug, Pierre Lepage, Jiannis Ragoussis, Guillaume Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani M. Al-Afghani, Bader Alghamdi, Mansour S. Almutairi, Ebrahim Sabri Mahmoud, Leen Abu-Safieh, Hadeel El Bardisy, Fawz S. Al Harthi, Abdulraheem Alshareef, Bandar Ali Suliman, Saleh A. Alqahtani, Abdulaziz Almalik, May M. Alrashed, Salam Massadeh, Vincent Mooser, Mark Lathrop, Mohamed Fawzy, Yaseen M. Arabi, Hamdi Mbarek, Chadi Saad, Wadha Al-Muftah, Junghyun Jung, Serghei Mangul, Radja Badji, Asma Al Thani, Said I. Ismail, Ali G. Gharavi, Malak S. Abedalthagafi, J. Brent Richards, David B. Goldstein, and Krzysztof Kiryluk. Journal of Clinical Investigation. 27 May 2021.

Identification of putative causal loci in whole-genome sequencing data via knockoff statistics. Zihuai He, Linxi Liu, Chen Wang, Yann Le Guen, Justin Lee, Stephanie Gogarten, Fred Lu, Stephen Montgomery, Hua Tang, Edwin K. Silverman, Michael H. Cho, Michael Greicius & Iuliana Ionita-Laza. Nature Communications. 25 May 2021.

Pulmonary fibrosis 4 months after COVID-19 is associated with severity of illness and blood leucocyte telomere length Claire F McGroder, David Zhang, Mohammad A Choudhury, Mary M Salvatore, Belinda M D'Souza, Eric A Hoffman, Ying Wei, Matthew R Baldwin, Christine Kim Garcia BMJ Thorax. 29 April 2021.

The double helix at school: Behavioral genetics, disability, and precision education. Sabatello M, Insel BJ, Corbeil T, Link BG, Appelbaum PS. Soc Sci Med. 20 April 2021.

Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies. Ning Shang, Atlas Khan, Fernanda Polubriaginof, Francesca Zanoni, Karla Mehl, David Fasel, Paul E. Drawz, Robert J. Carrol, Joshua C. Denny, Matthew A. Hathcock, Adelaide M. Arruda-Olson, Peggy L. Peissig, Richard A. Dart, Murray H. Brilliant, Eric B. Larson, David S. Carrell, Sarah Pendergrass, Shefali Setia Verma, Marylyn D. Ritchie, Barbara Benoit, Vivian S. Gainer, Elizabeth W. Karlson, Adam S. Gordon, Gail P. Jarvik, Ian B. Stanaway, David R. Crosslin, Sumit Mohan, Iuliana Ionita-Laza, Nicholas P. Tatonetti, Ali G. Gharavi, George Hripcsak, Chunhua Weng & Krzysztof Kiryluk. NPJ Digit. Med. 13 April 2021.

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, Atlas Khan, Sarah E. Graham, Maddalena Marasà, Hyunwoo Kim, Tze Y. Lim, Patricia L. Weng, Elena Sánchez-Rodríguez, Adele Mitrotti, Dina F. Ahram, Francesca Zanoni, David A. Fasel, Rik Westland, Matthew G. Sampson, Jun Y. Zhang, Monica Bodria, Byum Hee Kil, Shirlee Shril, Loreto Gesualdo, Fabio Torri, Francesco Scolari, Claudia Izzi, Joanna A.E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, David E. Barton, Mark G. Dobson, Prem Puri, Susan L. Furth, Bradley A. Warady, Isabella Pisani, Enrico Fiaccadori, Landino Allegri, Maria Ludovica Degl'Innocenti, Giorgio Piaggio, Shumyle Alam, Maddalena Gigante, Gianluigi Zaza, Pasquale Esposito, Fangming Lin, Ana Cristina Simões-e-Silva, Andrzej Brodkiewicz, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Maria Szczepanska, Piotr Adamczyk, Marcin Tkaczyk, Daria Tomczyk, Przemyslaw Sikora, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Vladimir J. Lozanovski, Zoran Gucev, Iuliana Ionita-Laza, Ian B. Stanaway, David R. Crosslin, Craig S. Wong, Friedhelm Hildebrandt, Jonathan Barasch, Eimear E. Kenny, Ruth J.F. Loos, Brynn Levy, Gian Marco Ghiggeri, Hakon Hakonarson, Anna Latos-Bieleńska, Anna Materna-Kiryluk, John M. Darlow, Velibor Tasic, Cristen Willer, Krzysztof Kiryluk, Simone Sanna-Cherchi, Cathy L. Mendelsohn and Ali G. Gharavi. JASN. 01 April 2021.

An Open Dialogue on Health Disparities and Structural Racism: Response to Open Peer Commentaries. Sabatello M, Jackson Scroggins M, Goto G, Santiago A, McCormick A, Jacoby Morris K, Daulton CR, Easter CL, Darien G. Am J Bioeth. 22 March 2021.

Children’s Psychiatric Genetic Data in Proceedings to Terminate Parental Rights. Sabatello M, Insel BJ, Link BG, Phelan JC, Appelbaum PS. J Am Acad Psychiatry Law. 12 February 2021.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Patricia L Weng, Amar J Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina F Ahram, Vimla S Aggarwal, Louise E Bier, Erin L Heinzen, Ana C Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M Kitzler, Verena Klämbt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B Beck, Janine Altmüller, Marcus R Benz, Shoji Yano, Mohamad A Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Undiagnosed Diseases Network; Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S AbuMaziad, Julian A Martinez-Agosto, Ora Yadin, Jonathan Zuckerman, Arang Kim, UCLA Clinical Genomics Center; Ulrike John-Kroegel, Amanda V Tyndall, Jillian S Parboosingh, A Micheil Innes, Agnieszka Bierzynska, Ania B Koziell, Mordi Muorah, Moin A Saleem, Julia Hoefele, Korbinian M Riedhammer, Ali G Gharavi, Vaidehi Jobanputra, Emma Pierce-Hoffman, Eleanor G Seaby, Anne O'Donnell-Luria, Heidi L Rehm, Shrikant Mane, Vivette D D'Agati, Martin R Pollak, Gian Marco Ghiggeri, Richard P Lifton, David B Goldstein, Erica E Davis, Friedhelm Hildebrandt, Simone Sanna-Cherchi. AJHG. 27 Jan 2021.

Teenagers and Precision Psychiatry: A Window of Opportunity. Sabatello M, Chen Y, Herrera CF, Brockhoff E, Austin J, Appelbaum PS. Public Health Genomics. 27 January 2021.

Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient. Rasouly HM, Aggarwal V, Bier L, Goldstein DB, Gharavi AG. Ann Intern Med. 19 January 2021.

Is precision medicine relevant in the age of COVID-19? Zhou A, Sabatello M, Eyal G, Lee SS, Rowe JW, Stiles DF, Swanson A, Appelbaum PS. Genet Med. 13 January 2021.

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. Milo Rasouly H, Cuneo N, Marasa M, DeMaria N, Chatterjee D, Thompson JJ, Fasel DA, Wynn J, Chung WK, Appelbaum P, Weng C, Bakken S, Gharavi AG. J Genetic Counseling. 2020 December 26.

Structural Racism in the COVID-19 Pandemic: Moving Forward. Sabatello M, Jackson Scroggins M, Goto G, Santiago A, McCormick A, Morris KJ, Daulton CR, Easter CL, Darien G. Am J Bioeth. 2020 December 19.

Clinical Genetic Screening in Adult Patients with Kidney Disease. Cocchi E, Nestor JG, Gharavi AG. Clin J Am Soc Nephrol. 2020 Oct 7.

Disability, Ethics, and Health Care in the COVID-19 Pandemic. Sabatello, M., Blankmayer-Burke, T., McDonald, K., Appelbaum, P.S. Am J Public Health. 2020 October.

Causal Genetic Variants in Stillbirth. Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. N Engl J Med. 2020 Sep 17.

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels? Ahram DF, Aggarwal VS, Sanna-Cherchi S. Am J Kidney Dis. 2020 Aug 15.

Natural Selection Shapes Codon Usage in the Human Genome. Dhindsa RS, Copeland BR, Mustoe AM, Goldstein DB. Am J Hum Genet. 2020 Jul 2.

People With Disabilities in COVID-19: Fixing Our Priorities. Sabatello, M., Landes, S., McDonald, K. Am J Bioeth. 2020 July.

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology. Nestor JG, Marasa M, Milo-Rasouly H, Groopman EE, Husain SA, Mohan S, Fernandez H, Aggarwal VS, Ahram DF, Vena N, Bogyo K, Bomback AS, Radhakrishnan J, Appel GB, Ahn W, Cohen DJ, Canetta PA, Dube GK, Rao MK, Morris HK, Crew RJ, Sanna-Cherchi S, Kiryluk K, Gharavi AG. Clin J Am Soc Nephrol. 2020 May 7.

The Ethics of Genetic Testing for Kidney Diseases. Sabatello, M., Milo Rasouly, H. Nat Rev Nephrol. 2020 1 May.

Type IV Collagen Mutations in Familial IgA Nephropathy. Li Y, Groopman EE, D'Agati V, Prakash S, Zhang J, Mizerska-Wasiak M, Caliskan Y, Fasel D, Karnib HH, Bono L, Omran SA, Sabban EA, Kiryluk K, Caridi G, Ghiggeri GM, Sanna-Cherchi S, Scolari F, Gharavi AG. Kidney Int Rep. 2020 Apr 24.

Patient Perspectives and Experiences with IVF and Genetic Testing Options. Rothwell, E., Lamb, B., Johnson, E., Gurtcheff, S., Riches, N. O, Fagan, M. B., Frances, L., Sabatello, M.,Johnstone, E. B. Ther Adv Reprod Health. 2020 16 April.

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research. Sabatello, M., Zhang, Y., Chen, Y., Appelbaum, P. Public Health Genomics. 2020 15 April.

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data. Xu D, Wang C, Kiryluk K, Buxbaum JD, Ionita-Laza I. Am J Hum Genet. 2020 Apr 2.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, Scolari F, Zhao MH, Gharavi AG, Kleta R, Chen N, Kiryluk K. Nat Commun. 2020 Mar 30.

2019

International Society of Psychiatric Genetics Ethics Committee: Issues facing us. Lázaro-Muñoz G., Sabatello M., Huckins L., Peay H., Degenhardt F., Meiser B., Lencz T., Soda T., Docherty A., Crepaz-Keay D., Austin J., Peterson RE., and Davis LK. Am J Med Genet B Neuropsychiatr Genet. 2019 December.

Including the Blind Community in Precision Medicine Research: Findings from a National Survey and Recommendations. Sabatello, M., Blake LA., Chao A., Zhang, Y., Chen, Y., Silverman, A., Appelbaum, P. Genet Med. 2019 November.

Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant. Neugut YD, Mohan S, Gharavi AG, Kiryluk K. Ann Intern Med. 2019 Oct 8.

Disability inclusion in precision medicine research: a first national survey. Sabatello M, Chen Y, Zhang Y, Appelbaum PS. Genet Med. 2019 Oct.

“Genomic Essentialism”: It’s Provenance and Trajectory as an Anticipatory Ethical Concern. Sabatello, M., Juengst, E. T. Hastings Center Report 2019 May.

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Milo Rasouly H, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Genet Med. 2019 Apr 1.

The “All of Us” Research Program. All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. N Engl J Med. 2019 Aug 15.

Cultivating Inclusivity in Precision Medicine Research: Disability, Diversity, and Cultural Competence. Sabatello, M. J Community Genet. 2019 July.

Exome-Based Rare-Variant Analyses in CKD. Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. J Am Soc Nephrol. 2019 May 13.

Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. Steers NJ, Li Y, Drace Z, D’Addario JA, Fischman C, Liu L, Xu K, Na YJ, Y. Neugut D, Zhang JY, Sterken R, Balderes O, Bradbury D, Ozturk N, Ozay F, Goswami S, Mehl K, Wold J, Jelloul FZ, Rohanizadegan M, Gillies CE,. Vasilescu ER, Vlad G, Ko YA, Mohan S, Radhakrishnan J, CohenDJ, Rattner L, Francesco Scolari F, Susztak K, Sampson MG, Deaglio S, Caliskan Y, Barasch JM,. Courtney AE, Maxwell AP, McKnight AJ, Ionita-Laza I, Bakker SJ, Snieder H, de Borst MH, D’Agati VD, Amoroso A, Gharavi AG* and Kiryluk K*. N Engl J Med. 2019 May 16.

Precision Medicine in Internal Medicine. Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK1. Ann Intern Med. 2019 May 7.

Diagnostic Utility of Exome Sequencing for Kidney Disease. Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. N Engl J Med. 2019 Jan 10.

2018

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C, Ren Z, Copeland B, Krithivasan P, Chung WK, Sanna-Cherchi S, Goldstein DB, Gharavi AG. Ann Intern Med. 2018 Nov 27.

2017

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. Lata S; Marasa M, Li Y, Fasel D, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater L, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton C, Rao M, Radhakrishnan J, Ahn W, Canetta P, Bomback A, Appel G, Antignac C, Markowitz G, Garcia C, Kiryluk K, Sanna-Cherchi S, Gharavi A. Annals of Internal Medicine. 2017 Dec 5.

2016

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Petrovski S, Goldstein DB. Genome Biol. 2016 Jul 14.