Shrikant Mane, PhD
Professor of GeneticsDownloadHi-Res Photo
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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
Contact Info
Appointments
Genetics
Primary
Additional Titles
Director, MBB Keck Biotech laboratory
Director, Yale Center for Genome Analysis
Contact Info
About
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.
Appointments
Genetics
ProfessorPrimary
Other Departments & Organizations
Education & Training
- PhD
- University of Bombay (1985)
Research
Overview
Medical Subject Headings (MeSH)
Genetics; Sequence Analysis, DNA
- 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
Murat Günel, MD, FACS, FAHA, FAANS
James Knight, PhD
John Persing, MD
Robert Camp, PhD, MD
49Publications
3,720Citations
Sequence Analysis, DNA
Publications
2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsEphrin receptor B4Galen malformationBrain arteriovenous malformationsP120 RasGAPTransmitted variantsArteriovenous malformationsDe novo variantsSingle-cell transcriptomesSignificant burdenCerebrovascular developmentIntegrative genomic analysisEndothelial cellsVenous networkAdditional probandsMalformationsNovo variantsMissense variantsGenomic analysisDevelopmental angiogenesisVascular developmentDamaging variantsVeinRasGAPIntegrated analysisPatientsRecessive Variants in NEK1 and NEK8 Are Associated with Cystic Kidney and Kidney Stone Disease
Gauntner V, Daouk G, Napier M, Besouw M, LaRosa C, Strong A, Mane S, Shril S, Chapman A, Hildebrandt F, Sayer J, Majmundar A. Recessive Variants in NEK1 and NEK8 Are Associated with Cystic Kidney and Kidney Stone Disease. Journal Of The American Society Of Nephrology 2023, 34: 938-938. DOI: 10.1681/asn.20233411s1938c.Peer-Reviewed Original ResearchExome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Deutsch K, Klämbt V, Kitzler T, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, Desoky S, Kari J, Hafeez F, Szczepańska M, Eid L, Awad H, Al-Saffar M, Soliman N, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum L, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane S, Rodig N, Hildebrandt F. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes & Diseases 2023, 11: 101111. PMID: 38868576, PMCID: PMC11167256, DOI: 10.1016/j.gendis.2023.101111.Peer-Reviewed Original ResearchAltmetricRare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Ahram D, Lim T, Ke J, Jin G, Verbitsky M, Bodria M, Kil B, Chatterjee D, Piva S, Marasa M, Zhang J, Cocchi E, Caridi G, Gucev Z, Lozanovski V, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone V, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel G, Uy N, Rao M, Canetta P, Bomback A, Nestor J, Hays T, Cohen D, Finale C, van Wijk J, 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 R, Tasic V, Latos-Bielenska A, Gharavi A, Ghiggeri G, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Journal Of The American Society Of Nephrology 2023, 34: 1105-1119. PMID: 36995132, PMCID: PMC10278788, DOI: 10.1681/asn.0000000000000132.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital obstructive uropathyPathogenic single nucleotide variantsOverall diagnostic yieldHeterogeneous clinical presentationSingle nucleotide variantsObstructive uropathyClinical presentationDiagnostic yieldGenomic disordersDevelopmental defectsUreteropelvic junction obstructionComprehensive genomic screensFirst diagnostic approachSignificant differencesGenetic susceptibility factorsNovel genetic susceptibility factorsCommon molecular basisDosage-sensitive genesVesicoureteral refluxCongenital megaureterUrinary tractJunction obstructionDiagnostic challengeCommon causeHuman developmental defectsMultiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Kundishora A, Allington G, McGee S, Mekbib K, Gainullin V, Timberlake A, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy P, Elsamadicy A, Dong W, Zhao S, Wang Y, Qureshi H, DiLuna M, Mane S, Tikhonova I, Fu P, Castaldi C, López-Giráldez F, Knight J, Furey C, Carter B, Haider S, Moreno-De-Luca A, Alper S, Gunel M, Millan F, Lifton R, Torene R, Jin S, Kahle K. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine 2023, 29: 667-678. PMID: 36879130, DOI: 10.1038/s41591-023-02238-2.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsArachnoid cystCerebral arachnoid cystsDe novo variantsAC pathogenesisDevelopmental brain lesionsStructural brain diseaseAppropriate clinical contextPatients' medical recordsDamaging de novo variantsMedical recordsClinical severityBrain lesionsHealthy individualsAC subtypesBrain diseasesGenetic testingNeurodevelopmental pathologyClinical contextPathogenesisPatient phenotypesNeurodevelopmental programsNovo variantsRNA sequencing transcriptomeHuman brainCystsUtility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms
Chhoda A, Sharma A, Sailo B, Tang H, Ruzgar N, Tan W, Ying L, Khatri R, Narayanan A, Mane S, De Kumar B, Wood L, Iacobuzio-Donahue C, Wolfgang C, Kunstman J, Salem R, Farrell J, Ahuja N. Utility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms. Clinical Epigenetics 2023, 15: 28. PMID: 36803844, PMCID: PMC9942382, DOI: 10.1186/s13148-023-01429-5.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPapillary mucinous neoplasmMalignant risk stratificationCACNA1G geneRisk stratificationMucinous neoplasmsBiomarker panelBackgroundIntraductal papillary mucinous neoplasmIntraductal papillary mucinous neoplasmEarly detectionPrevious case-control studyHigh-grade dysplasiaCase-control studyPancreatic cancer precursorsReceiver Operating Characteristic (ROC) curve analysisSignificant diagnostic challengeCross-sectional imagingCharacteristic curve analysisOperating Characteristic curve analysisG geneHigh diagnostic specificityPrior validation studiesSignificant procedural riskIPMN tissuesSurgical resectionAdvanced neoplasiaInborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir S, Bayhan G, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna J, Jaffré F, Hoffmann H, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias A, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus A, Rosain J, Peel J, Chan Y, Morin M, Pino-Ramirez R, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego M, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss S, Bonnet D, Duval X, Pan-Hammarström Q, Planas A, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, de Diego R, Rodriguez-Gallego C, Su H, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice C, Silverman R, Zhang S, Casanova J, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Christelle K, Nicolas L, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, Abel L, Abolhassani H, Aguilera-Albesa S, Aiuti A, Akcan O, Akcay N, Alkan G, Alkhater S, Allende L, Alper Y, Amenzoui N, Anderson M, Arkin L, Aubart M, Avramenko I, Aydemir Ş, Aydin Z, Aytekin C, Aytekin G, Aytekin S, Bando S, Beland K, Belkaya S, Biggs C, Aburto A, Blanchard-Rohner G, Blázquez-Gamero D, Bloomfield M, Bogunovic D, Bondarenko A, Borghesi A, Bousfiha A, Boyarchuk O, Brodin P, Bryceson Y, Bucciol G, Calcaterra V, Casari G, Cavalcanti A, Celik J, Chrousos G, Colobran R, Condino-Neto A, Conti F, Cooper M, Coskuner T, Cyrus C, D’Auria E, Delafontaine S, Drolet B, Duramaz B, Zein L, Elnagdy M, Emiroglu M, Erdeniz E, Fabi M, Feldman H, Fellay J, Fencl F, Filippatos F, Freiss J, Fremuth J, Gagro A, Garcia-Solis B, Vergine G, González-Montelongo R, Gul Y, Gülhan B, Gultekin S, Gut M, Halwani R, Hammarström L, Hatipoğlu N, Heath J, Henrickson S, Hernandez-Brito E, Hoffman I, Hoste L, Hsieh E, Íñigo-Campos A, Itan Y, Jabandziev P, Kandemir B, Kanık-Yüksek S, Kapakli H, Karbuz A, Kasapcopur O, Kechiche R, Demirkol Y, Kilic O, Hansen S, Klocperk A, Lau Y, Lebl J, Lorenzo-Salazar J, Lucas C, Maglorius M, Marque L, Medina Y, Melián A, Mentis A, Pato M, Michos A, Milner J, Mogensen T, Muñoz-Barrera A, Nepesov S, Neves J, Ng A, Ng L, Novelli A, Novelli G, Oz F, Ocejo-Viñals J, Okada S, Orbak Z, Kilic A, Ouair H, Öz Ş, Özçelik T, Özkan E, Parlakay A, Pato C, Paz-Artal E, Pelham S, Pellier I, Philippot Q, Planas-Serra L, Plassart S, Pokorna P, Polat M, Poli C, Prando C, Renia L, Rivière J, Rodríguez-Palmero A, Roussel L, Rubio-Rodriguez L, Salifu M, Sasek L, Sasia L, Scherbina A, Schmitt E, Sediva A, Sevketoglu E, Slaba K, Slaby O, Sobh A, Solé-Violán J, Soler-Palacin P, De Somer L, Sözeri B, Spaan A, Stepanovskiy Y, Tangye S, Tanir G, Tatsi E, Thorball C, Torun S, Turvey S, Uddin M, Uyar E, Valencia-Ramos J, Van Den Rym A, Vatansev H, de Vera M, Vermeulen F, Vinh D, Volokha A, von Bernuth H, Wouters C, Yahşi A, Yarar V, Yesilbas O, Yıldız M, Zatz M, Zawadzki P, Zuccotti G, Zhang S, Casanova J. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. Science 2023, 379: eabo3627. PMID: 36538032, PMCID: PMC10451000, DOI: 10.1126/science.abo3627.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsOAS-RNase LInflammatory syndromeCytokine productionInflammatory cytokinesSARS-CoV-2-related multisystem inflammatory syndromeCytosolic double-stranded RNAMultisystem inflammatory syndromeRig-I deficiencySuppress cytokine productionPrimary myeloid cellsRNase LMonocytic cell lineAutosomal recessive deficiencyMyeloid cellsMononuclear phagocytesUnrelated childrenInborn errorsRecessive deficiencyDeficient cellsProtein deficiencyCOVID-19Cell linesCytokinesSyndromeDouble-stranded RNAGenetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss A, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu C, Onuchic-Whitford A, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia M, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton R, Kirschner K, Kispert A, Rosenberger G, Fischer K, Lienkamp S, Zegers M, Hildebrandt F. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Journal Of The American Society Of Nephrology 2023, 34: 273-290. PMID: 36414417, PMCID: PMC10103091, DOI: 10.1681/asn.2022010050.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsIntegrin-linked kinaseFocal adhesion proteinsThree-dimensional (3D) MadinCdc42/Rac1Genetic variantsRac1/Cdc42Loss of interactionFrog modelPolarity defectsExchange factorNovel genesFocal adhesionsLamellipodia formationARHGEF6Adhesion proteinsDisease genesDeleterious variantsCell spreadingLumen formationCell migrationGenesProteinHemizygous variantKidney cellsExome sequencingHYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
Shapiro A, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh M, Davis S, Knowles M, Zariwala M. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians. Annals Of The American Thoracic Society 2023, 20: 140-144. PMID: 36112114, PMCID: PMC9819264, DOI: 10.1513/annalsats.202203-253rl.Peer-Reviewed Original ResearchCitationsAltmetric
2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Majmundar A, Widmeier E, Heneghan J, Daga A, Wu C, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun D, Jobst-Schwan T, Lawson J, Zahoor M, Rodig N, Tasic V, Nelson C, Khaliq S, Schönauer R, Halbritter J, Sayer J, Fathy H, Baum M, Shril S, Mane S, Alper S, Hildebrandt F. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics In Medicine 2022, 25: 100351. PMID: 36571463, PMCID: PMC9992313, DOI: 10.1016/j.gim.2022.11.019.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsExome sequencingChronic kidney diseaseStrong amino acid conservationSignificant patient morbidityCalcium oxalate nephrolithiasisMissense variantsAutosomal dominant inheritance patternTransepithelial calcium transportAmino acid conservationCandidate disease genesDominant inheritance patternCausative genetic variantsKidney diseasePatient morbidityExome Aggregation ConsortiumNC cohortRisk factorsOxalate nephrolithiasisDistal nephronNephrocalcinosisNephrolithiasisLoss of functionChloride-bicarbonate exchangerReceptor 1Genomic approaches
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