Shrikant Mane, PhD
Professor of GeneticsDownloadHi-Res Photo
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Genetics
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Director, MBB Keck Biotech laboratory
Director, Yale Center for Genome Analysis
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Appointments
Genetics
Primary
Additional Titles
Director, MBB Keck Biotech laboratory
Director, Yale Center for Genome Analysis
Contact Info
Appointments
Genetics
Primary
Additional Titles
Director, MBB Keck Biotech laboratory
Director, Yale Center for Genome Analysis
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Titles
Professor of Genetics
Director, MBB Keck Biotech laboratory; Director, Yale Center for Genome Analysis
Biography
Dr. Mane brings expertise for genomic and proteomic analyses using both microarray and high-throughput DNA sequencing technologies. He received his Ph.D. in Cancer Biology in 1985 and did his Postdoc at the Johns Hopkins University School of Medicine. He is the Director of the Yale Center for Genome Analysis (YCGA) Shared Resource and the Director of The Keck Biotechnology Resource Laboratory at Yale. He has published more than 125 articles, holds 2 patents, and has amassed over 25 years of research experience in both academic and private industry. He has attracted significant funding from NIH and other sources to maintain cutting edge genomic technologies at Yale. Currently, Dr. Mane is one of four PIs of the Yale Center for Mendelian Genomics established in 2012 through an $11.2 million-dollar grant from NHGRI. Besides directing the YCGA, he pursues research in the field of neuroscience. Dr. Mane has a demonstrated record of establishing a successful and productive genomic facility that has provided over 58,000 sequence analyses (library prep, sequencing and analyses) to 225 Yale and 124 non-Yale principal investigators from 72 national and 16 international institutions.
Last Updated on April 19, 2025.
Appointments
Genetics
ProfessorPrimary
Other Departments & Organizations
Education & Training
- PhD
- University of Bombay (1985)
Research
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Overview
Medical Research Interests
Genetics; Sequence Analysis, DNA
ORCID
0000-0002-3267-5139- View Lab Website
Yale Center for Genome Analysis
Research at a Glance
Yale Co-Authors
Frequent collaborators of Shrikant Mane's published research.
Publications Timeline
A big-picture view of Shrikant Mane's research output by year.
Research Interests
Research topics Shrikant Mane is interested in exploring.
Kaya Bilguvar, MD, PhD
Francesc Lopez-Giraldez, PhD
Richard Lifton, MD, PhD
Hongyu Zhao, PhD
Murat Günel, MD, FACS, FAHA, FAANS
James Knight, PhD
57Publications
7,712Citations
Sequence Analysis, DNA
Publications
2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Milo Rasouly H, Krishna Murthy S, Vena N, Povysil G, Beenken A, Verbitsky M, Shril S, Lekkerkerker I, Yang S, Khan A, Fasel D, Wongboonsin J, Martino J, Ke J, Elefant N, Tomar N, Harnof O, Kisselev S, Bheda S, Reytan-Miron S, Lim T, Jamry-Dziurla A, Lugani F, Zhang J, Marasa M, Kolupaeva V, Groopman E, Jin G, Ghavami I, Stevens K, Coughlin A, Kil B, Chatterjee D, Bradbury D, Zheng J, Mehl K, Morban M, Reingold R, Piva S, Mu X, Mitrotti A, Szmigielska A, Gliwińska A, Ranghino A, Bomback A, Badenski A, Latos-Bielenska A, Capone V, Materna-Kiryluk A, Amoroso A, Izzi C, La Scola C, Cohen D, Santoro D, Drozdz D, Fiaccadori E, Lin F, Scolari F, Tondolo F, La Manna G, Appel G, Ghiggeri G, Zaza G, Montini G, Masnata G, Krzemien G, Pisani I, Radhakrishnan J, Zachwieja K, Gesualdo L, Biancone L, Meneghesso D, Mizerska-Wasiak M, Tkaczyk M, Zaniew M, Borszewska-Kornacka M, Szczepanska M, Saraga M, Rao M, Bodria M, Miklaszewska M, Uy N, Baraldi O, Bjanid O, Esposito P, Zamboli P, Marzuillo P, Canetta P, Sikora P, Westland R, Crew R, Alam S, Guarino S, Negrisolo S, Hays T, Mane S, Grandinetti V, Tasic V, Lozanovski V, Caliskan Y, Goldstein D, Lifton R, Ionita-Laza I, Kiryluk K, van Eerde A, Hildebrandt F, Sanna-Cherchi S, Gharavi A. Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Nature Communications 2025, 16: 7290. PMID: 40774958, PMCID: PMC12332173, DOI: 10.1038/s41467-025-62319-3.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPhenotypic spectrumDiagnostic variantsPediatric chronic kidney diseaseSpectrum of developmental disordersCross-phenotype analysesDevelopmental disordersChronic kidney diseaseCAKUT casesCAKUT genesCongenital anomaliesCardiac phenotypeUrinary tractPhenotypic expansionCAKUT patientsCAKUTCausal genesKidney diseaseCandidate genesCoding variantsKidney developmentGenesDisordersNR6A1KidneyVariantsTrio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families
Merz L, Kolvenbach C, Wang C, Mertens N, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton D, Mann N, Wu C, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken G, Lomjansook K, Braun A, Bauer S, Rodig N, Somers M, Traum A, Stein D, Daga A, Baum M, Daouk G, Awad H, Eid L, El Desoky S, Shalaby M, Kari J, Ooda S, Fathy H, Soliman N, Nabhan M, Abdelrahman S, Hilger A, Mane S, Ferguson M, Tasic V, Shril S, Hildebrandt F. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. Genetics In Medicine 2025, 27: 101432. PMID: 40223730, PMCID: PMC12229778, DOI: 10.1016/j.gim.2025.101432.Peer-Reviewed Original ResearchCitationsAltmetricConceptsCandidate genesExome sequencingDisease genesPotential novel candidate genesCandidate disease genesTrio-based exome sequencingDe novo variantsTrio exome sequencingDisease etiologyPathogenesis of CAKUTPotential novel causeTrio familiesTrio analysisMonogenic genesGenesNovel causeCHD1LSOX13VariantsTriosSequenceCongenital anomaliesHeterogeneous malformationUrinary tractCAKUTGenomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalitiesRecessive genetic contribution to congenital heart disease in 5,424 probands
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, Morton S, Zhang J, López-Giráldez F, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, Cnota J, Wagner M, Srivastava D, Bernstein D, Porter G, Newburger J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Seidman J, Chung W, Gelb B, Seidman C, Lifton R, Brueckner M. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419992122. PMID: 40030011, PMCID: PMC11912448, DOI: 10.1073/pnas.2419992122.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsRecessive genotypeCHD probandsCongenital heart diseaseAssociated with laterality defectsGene-based analysisAnalyzed whole-exome sequencingLeft-sided congenital heart diseaseWhole-exome sequencingCongenital heart disease phenotypeAshkenazi Jewish probandsOffspring of consanguineous unionsSingle-cell transcriptomicsCHD geneExome sequencingMouse notochordSecreted proteinsConsanguineous familyFounder variantGenesSignificant enrichmentLaterality phenotypesHeart diseaseProbandsAbnormal contractile functionConsanguineous unionsThe human and non-human primate developmental GTEx projects
Bell T, Blanchard T, Hernandez R, Linn R, Taylor D, VonDran M, Ahooyi T, Beitra D, Bernieh A, Delaney M, Faith M, Fattahi E, Footer D, Gilbert M, Guambaña S, Gulino S, Hanson J, Hattrell E, Heinemann C, Kreeb J, Leino D, Mcdevitt L, Palmieri A, Pfeiffer M, Pryhuber G, Rossi C, Rasool I, Roberts R, Salehi A, Savannah E, Stachowicz K, Stokes D, Suplee L, Van Hoose P, Wilkins B, Williams-Taylor S, Zhang S, Ardlie K, Getz G, Lappalainen T, Montgomery S, Aguet F, Anderson L, Bernstein B, Choudhary A, Domenech L, Gaskell E, Johnson M, Liu Q, Marderstein A, Nedzel J, Okonda J, Padhi E, Rosano M, Russell A, Walker B, Sestan N, Gerstein M, Milosavljevic A, Borsari B, Cho H, Clarke D, Deveau A, Galeev T, Gobeske K, Hameed I, Huttner A, Jensen M, Jiang Y, Li J, Liu J, Liu Y, Ma J, Mane S, Meng R, Nadkarni A, Ni P, Park S, Petrosyan V, Pochareddy S, Salamon I, Xia Y, Yates C, Zhang M, Zhao H, Conrad D, Feng G, Brady F, Boucher M, Carbone L, Castro J, del Rosario R, Held M, Hennebold J, Lacey A, Lewis A, Lima A, Mahyari E, Moore S, Okhovat M, Roberts V, de Castro S, Wessel B, Zaniewski H, Zhang Q, Arguello A, Baroch J, Dayal J, Felsenfeld A, Ilekis J, Jose S, Lockhart N, Miller D, Minear M, Parisi M, Price A, Ramos E, Zou S. The human and non-human primate developmental GTEx projects. Nature 2025, 637: 557-564. PMID: 39815096, PMCID: PMC12013525, DOI: 10.1038/s41586-024-08244-9.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsAltmetricMeSH Keywords and ConceptsConceptsChromatin accessibility dataFunctional genomic studiesWhole-genome sequencingEffects of genetic variationSpatial gene expression profilesNon-human primatesGenotype-Tissue ExpressionGene expression profilesGenomic studiesGene regulationGenetic dataGenetic variationGenomic researchDonor diversityCommunity engagementHuman evolutionEarly developmental defectsGene expressionCell statesDevelopmental programmeHuman diseasesExpression profilesAdult tissuesDevelopmental defectsSingle-cellDysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchCitationsAltmetricConceptsP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsyGenomic alterations in normal breast tissues preceding breast cancer diagnosis
Dai J, Rozenblit M, Li X, Shan N, Wang Y, Mane S, Marczyk M, Pusztai L. Genomic alterations in normal breast tissues preceding breast cancer diagnosis. Breast Cancer Research 2025, 27: 60. PMID: 40264151, PMCID: PMC12013151, DOI: 10.1186/s13058-025-02018-5.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsHistologically normal breast tissueSomatic mutationsNormal breast tissueGenomic alterationsBreast tissuePre-DiagnosisMethodsWhole exome sequencingCancer diagnosisCancer predisposition genesCOSMIC signature 3Breast cancerCancer hallmark genesBreast tissue of womenBreast cancer diagnosisEvading growth suppressorsVariant burdenMutational signature analysisRegulatory genesAffected genesExome sequencingGermline variantsTissue of womenTissues adjacent to cancerDNA repairGenomic instability
2024
Improved Survival With Adjuvant Cyclooxygenase 2 Inhibition in PIK3CA-Activated Stage III Colon Cancer: CALGB/SWOG 80702 (Alliance)
Nowak J, Twombly T, Ma C, Shi Q, Haruki K, Fujiyoshi K, Väyrynen J, Zhao M, Knight J, Mane S, Shergill A, Kumar P, Couture F, Kuebler P, Krishnamurthi S, Tan B, Philip P, O'Reilly E, Shields A, Ogino S, Fuchs C, Meyerhardt J. Improved Survival With Adjuvant Cyclooxygenase 2 Inhibition in PIK3CA-Activated Stage III Colon Cancer: CALGB/SWOG 80702 (Alliance). Journal Of Clinical Oncology 2024, 42: 2853-2859. PMID: 38889377, PMCID: PMC11392453, DOI: 10.1200/jco.23.01680.Peer-Reviewed Original ResearchCitationsAltmetricConceptsDisease-free survivalStage III colon cancerIII colon cancerRisk of recurrenceGain-of-function mutationsColon cancerWildtype patientsMutation statusImproved survivalUsage of COX-2 inhibitorsGain-of-functionStandard adjuvant chemotherapyCOX-2Primary end pointCyclooxygenase 2 inhibitionCOX-2 inhibitorsColorectal cancer diagnosisCOX-2 inhibitionWhole-exome sequencing dataNational Cancer InstitutePIK3CA statusOverall survivalAdjuvant chemotherapyStatistically significant improvementClinical trial updateDevelopment, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda V, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi R, Prajapati A, Godbole K, Patel H, Luhar Z, Shah R, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha C, Sheth F, Joshi C, Joshi M, Sheth J. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. Human Genomics 2024, 18: 46. PMID: 38730490, PMCID: PMC11088154, DOI: 10.1186/s40246-024-00613-9.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSingle-molecule molecular inversion probesSingle nucleotide variantsCopy number variantsExon-intron boundariesMolecular inversion probesLysosomal storage disorderLow clinical suspicionCausative single nucleotide variantsDiagnostic yieldClinical suspicionMultiple variant typesHigh-throughput sequencing assaysGenetic screening methodBiochemical diagnosisSingle molecule molecular inversion probesSequencing librariesNucleotide variantsNiemann-Pick disease type CDNA sequencesStorage disorderDiagnosis of lysosomal storage disordersSequencing assayGenetic causeDried Blood SpotsBiochemical testsExpanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank C, Onuchic-Whitford A, Kitzler T, Mao Y, Klämbt V, Zahoor M, Lemberg K, Majmundar A, Mansour B, Saida K, Seltzsam S, Kolvenbach C, Merz L, Mertens N, Hermle T, Mann N, Pantel D, Halawi A, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov I, Sagiv I, Eid L, Awad H, Al Saffar M, Soliman N, Nabhan M, Kari J, Desoky S, Shalaby M, Ooda S, Fathy H, Mane S, Lifton R, Somers M, Hildebrandt F. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes & Diseases 2024, 12: 101280. PMID: 39584075, PMCID: PMC11582537, DOI: 10.1016/j.gendis.2024.101280.Peer-Reviewed Original ResearchCitations
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