Sohela Shah, PhD

Title(s)Prog Dir Invent/Catalyst Fund, Innovation Ventures
Address490 Illinois Street, #5206
San Francisco CA 94158
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    Collapse Biography 
    Collapse Education and Training
    Tufts Graduate School of Biomedical Sciences, Boston, MAPh.DGenetics
    Rutgers University, New Brunswick, NJBSBiochemistry

    Collapse Overview 
    Collapse Overview
    I am a Human Geneticist with extensive experience in research, product and program management, and technology commercialization. Driven by my dedication to the field of genetics and genomics, I aspire to continue making significant contributions and aim to foster collaboration between academia and industry, working towards driving innovation and improving patient outcomes. With my diverse expertise in research, product management, and technology commercialization, I am excited to make a lasting impact in the field.

    Currently, I oversee and mentor projects in the diagnostic and digital health tracks for the Catalyst Program and InVent Fund, within Innovation Ventures at UCSF. With a strong passion for advancing research projects and promoting technology patenting and commercialization, I am dedicated to bridging the gap between groundbreaking innovations and real-world application. Before joining Innovation Ventures, I worked as the founding product manager for a startup project project at The Production Board

    I started my career journey in academia, earning a Ph.D. in Genetics from Tufts University's School of Biomedical Sciences in Boston. Building upon my expertise, I pursued postdoctoral training in rare disease genetics at the University of California San Francisco, followed by a research fellowship in clinical genetics and genomics at Memorial Sloan Kettering Cancer Center as a Niehaus Scholar. After my academic research and training, I transitioned to the field of technology startups focused on developing software tools and solutions for curating, interpreting, and analyzing complex biological data and played a key role in the development of NGS (Next-Generation Sequencing) data interpretation and reporting software for genetic test results at Ingenuity Systems (acquired by QIAGEN) and Invitae Corp.
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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases. BMC Genomics. 2017 08 11; 18(Suppl 5):551. Krämer A, Shah S, Rebres RA, Tang S, Richards DR. PMID: 28812537; PMCID: PMC5558185.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    2. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Hum Mutat. 2017 09; 38(9):1182-1192. Daneshjou R, Wang Y, Bromberg Y, Bovo S, Martelli PL, Babbi G, Lena PD, Casadio R, Edwards M, Gifford D, Jones DT, Sundaram L, Bhat RR, Li X, Pal LR, Kundu K, Yin Y, Moult J, Jiang Y, Pejaver V, Pagel KA, Li B, Mooney SD, Radivojac P, Shah S, Carraro M, Gasparini A, Leonardi E, Giollo M, Ferrari C, Tosatto SCE, Bachar E, Azaria JR, Ofran Y, Unger R, Niroula A, Vihinen M, Chang B, Wang MH, Franke A, Petersen BS, Pirooznia M, Zandi P, McCombie R, Potash JB, Altman RB, Klein TE, Hoskins RA, Repo S, Brenner SE, Morgan AA. PMID: 28634997; PMCID: PMC5600620.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    3. Lessons from the CAGI-4 Hopkins clinical panel challenge. Hum Mutat. 2017 09; 38(9):1155-1168. Chandonia JM, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, Lam HYK, Leonardi E, Moult J, Pal LR, Searls DB, Shah S, Sunyaev S, Tosatto SCE, Yin Y, Buckley BA. PMID: 28397312; PMCID: PMC5600166.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    4. Evaluating the association of multiple single nucleotide polymorphisms with response to gemcitabine and platinum combination chemotherapy in urothelial carcinoma of the bladder
. Int J Clin Pharmacol Ther. 2017 Mar; 55(3):203-209. Alanee SR, Shah S, Zabor EC, Vijai J, Ostrovnaya I, Garcia-Grossman IR, Pendse DV, Littman J, Regazzi AM, Offit K, Bajorin DF. PMID: 28177276.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    5. Better bioinformatics will help labs manage genetic testing. MLO Med Lab Obs. 2017 02; 49(2):28, 31. Shah S. PMID: 30005479.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Empowered genome community: leveraging a bioinformatics platform as a citizen-scientist collaboration tool. Appl Transl Genom. 2015 Sep; 6:7-10. Wendelsdorf K, Shah S. PMID: 27054071; PMCID: PMC4803769.
      View in: PubMed   Mentions: 2  
    7. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping. PLoS One. 2015; 10(6):e0131211. Bull LN, Hu D, Shah S, Temple L, Silva K, Huntsman S, Melgar J, Geiser MT, Sanford U, Ortiz JA, Lee RH, Kusanovic JP, Ziv E, Vargas JE. PMID: 26126184; PMCID: PMC4488338.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    8. Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant. J Clin Oncol. 2016 Mar 10; 34(8):e61-7. Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, Norton L, Hudis C, Klein RJ, Kauff ND, Robson M, Stadler ZK, Haber DA, Lipkin SM, Friedman E, Foulkes WD, Altshuler D, Vijai J, Offit K. PMID: 24982446.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    9. Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer. Fam Cancer. 2013 Dec; 12(4):597-600. Alanee S, Shah S, Vijai J, Schrader K, Hamilton R, Rau-Murthy R, Sarrel K, Manschreck C, Eastham J, Offit K. PMID: 23475555; PMCID: PMC5073797.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    10. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One. 2013; 8(9):e75770. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. PMID: 24086631; PMCID: PMC3784396.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    11. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231. Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K. PMID: 24013638; PMCID: PMC3919799.
      View in: PubMed   Mentions: 148     Fields:    Translation:Humans
    12. Assessment of SLX4 Mutations in Hereditary Breast Cancers. PLoS One. 2013; 8(6):e66961. Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A. PMID: 23840564; PMCID: PMC3694110.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    13. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013; 9(3):e1003173. Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D, KConFab Investigators, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M, Ontario Cancer Genetics Network, Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'Andrea E, Caldes T, Nevanlinna H, Osorio A, van Rensburg EJ, Arason A, Rennert G, van den Ouweland AM, van der Hout AH, Kets CM, Aalfs CM, Wijnen JT, Ausems MG, HEBON, EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Jacobs C, Adlard J, Tischkowitz M, Porteous ME, Damiola F, GEMO Study Collaborators, Golmard L, Barjhoux L, Longy M, Belotti M, Ferrer SF, Mazoyer S, Spurdle AB, Manoukian S, Barile M, Genuardi M, Arnold N, Meindl A, Sutter C, Wappenschmidt B, Domchek SM, Pfeiler G, Friedman E, Jensen UB, Robson M, Shah S, Lazaro C, Mai PL, Benitez J, Southey MC, Schmidt MK, Fasching PA, Peto J, Humphreys MK, Wang Q, Michailidou K, Sawyer EJ, Burwinkel B, Guénel P, Bojesen SE, Milne RL, Brenner H, Lochmann M, GENICA Network, Aittomäki K, Dörk T, Margolin S, Mannermaa A, Lambrechts D, Chang-Claude J, Radice P, Giles GG, Haiman CA, Winqvist R, Devillee P, García-Closas M, Schoof N, Hooning MJ, Cox A, Pharoah PD, Jakubowska A, Orr N, González-Neira A, Pita G, Alonso MR, Hall P, Couch FJ, Simard J, Altshuler D, Easton DF, Chenevix-Trench G, Antoniou AC, Offit K. PMID: 23544012; PMCID: PMC3609647.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    14. Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier. Fam Cancer. 2013 Mar; 12(1):125-7. Alanee S, Shah S, Murali R, Rau-Murthy R, Schrader KA, Offit K. PMID: 23086583; PMCID: PMC5073794.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    15. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology. 2013 May; 144(5):945-955.e6; quiz e14-5. Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. PMID: 23415802; PMCID: PMC4175397.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    16. Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. PLoS Genet. 2013; 9(1):e1003220. Vijai J, Kirchhoff T, Schrader KA, Brown J, Dutra-Clarke AV, Manschreck C, Hansen N, Rau-Murthy R, Sarrel K, Przybylo J, Shah S, Cheguri S, Stadler Z, Zhang L, Paltiel O, Ben-Yehuda D, Viale A, Portlock C, Straus D, Lipkin SM, Lacher M, Robson M, Klein RJ, Zelenetz A, Offit K. PMID: 23349640; PMCID: PMC3547842.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    17. Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet. 2012 Oct; 49(10):618-20. Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, Radice P, Manoukian S, Feroce I, Capra F, Couch FJ, Wang X, Guidugli L, Offit K, Shah S, Campbell IG, Thompson ER, James PA, Trainer AH, Gracia J, Benitez J, van Asperen CJ, Devilee P. PMID: 23054243.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    18. Rare de novo germline copy-number variation in testicular cancer. Am J Hum Genet. 2012 Aug 10; 91(2):379-83. Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee YH, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K. PMID: 22863192; PMCID: PMC3415553.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    19. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Apr; 21(4):645-57. Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL, OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P, SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB, HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE, EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D, GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G, kConFab investigators, Offit K, Simard J, Consortium of Investigators of Modifiers of BRCA1/2. PMID: 22351618; PMCID: PMC3319317.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    20. Strain background modifies phenotypes in the ATP8B1-deficient mouse. PLoS One. 2010 Feb 01; 5(2):e8984. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. PMID: 20126555; PMCID: PMC2813882.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    21. Babesia microti primarily invades mature erythrocytes in mice. Infect Immun. 2006 Jun; 74(6):3204-12. Borggraefe I, Yuan J, Telford SR, Menon S, Hunter R, Shah S, Spielman A, Gelfand JA, Wortis HH, Vannier E. PMID: 16714547; PMCID: PMC1479280.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
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