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Shrikant Mane, PhD

Professor of Genetics; Director, MBB Keck Biotech laboratory; Director, Yale Center for Genome Analysis

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Shrikant Mane, PhD
Yale Center for Genome Analysis

Coauthors

Selected Publications

  • Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsKundishora 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.
  • Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in childrenLee 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.
  • HYDIN 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.
  • Whole Exome Sequencing of Severe Asthma Identifies Novel Gene Association CandidatesWang Z, Shan N, Yan X, Mane S, Gomez J, Chupp G. Whole Exome Sequencing of Severe Asthma Identifies Novel Gene Association Candidates. 2020, a1336-a1336. DOI: 10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1336.
  • PD52-06 COMPUTATIONAL IMMUNOGENOMIC MODELING OF IMMUNOEVASIVE AGGRESSIVE PROSTATE CANCERKorman* H, Wojno K, Kassis A, Henao R, Hafron J, Kernen K, Erickson G, Stylli H, Mane S, Busta A, Marriott E, Tinawi-Aljundi R, Putzi M, Kantoff P. PD52-06 COMPUTATIONAL IMMUNOGENOMIC MODELING OF IMMUNOEVASIVE AGGRESSIVE PROSTATE CANCER. Journal Of Urology 2020, 203 DOI: 10.1097/ju.0000000000000954.06.
  • Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosisTimberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher D, Larysz D, Staffenberg D, Flores R, Rodriguez E, Boggon T, Persing J, Lifton R, Lifton RP, Gunel M, Mane S, Bilguvar K, Gerstein M, Loring E, Nelson-Williams C, Lopez F, Knight J. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15116-15121. PMID: 31292255, PMCID: PMC6660739, DOI: 10.1073/pnas.1902041116.
  • Integrative functional genomic analysis of human brain development and neuropsychiatric risksLi M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw C, Pardiñas AF, Hu M, Jin F, Li Y, Owen M, O’Donovan M, Walters J, Posthuma D, Reimers M, Levitt P, Weinberger D, Hyde T, Kleinman J, Geschwind D, Hawrylycz M, State M, Sanders S, Sullivan P, Gerstein M, Lein E, Knowles J, Sestan N, Willsey A, Oldre A, Szafer A, Camarena A, Cherskov A, Charney A, Abyzov A, Kozlenkov A, Safi A, Jones A, Ashley-Koch A, Ebbert A, Price A, Sekijima A, Kefi A, Bernard A, Amiri A, Sboner A, Clark A, Jaffe A, Tebbenkamp A, Sodt A, Guillozet-Bongaarts A, Nairn A, Carey A, Huttner A, Chervenak A, Szekely A, Shieh A, Harmanci A, Lipska B, Carlyle B, Gregor B, Kassim B, Sheppard B, Bichsel C, Hahn C, Lee C, Chen C, Kuan C, Dang C, Lau C, Cuhaciyan C, Armoskus C, Mason C, Liu C, Slaughterbeck C, Bennet C, Pinto D, Polioudakis D, Franjic D, Miller D, Bertagnolli D, Lewis D, Feng D, Sandman D, Clarke D, Williams D, DelValle D, Fitzgerald D, Shen E, Flatow E, Zharovsky E, Burke E, Olson E, Fulfs E, Mattei E, Hadjimichael E, Deelman E, Navarro F, Wu F, Lee F, Cheng F, Goes F, Vaccarino F, Liu F, Hoffman G, Gürsoy G, Gee G, Mehta G, Coppola G, Giase G, Sedmak G, Johnson G, Wray G, Crawford G, Gu G, van Bakel H, Witt H, Yoon H, Pratt H, Zhao H, Glass I, Huey J, Arnold J, Noonan J, Bendl J, Jochim J, Goldy J, Herstein J, Wiseman J, Miller J, Mariani J, Stoll J, Moore J, Szatkiewicz J, Leng J, Zhang J, Parente J, Rozowsky J, Fullard J, Hohmann J, Morris J, Phillips J, Warrell J, Shin J, An J, Belmont J, Nyhus J, Pendergraft J, Bryois J, Roll K, Grennan K, Aiona K, White K, Aldinger K, Smith K, Girdhar K, Brouner K, Mangravite L, Brown L, Collado-Torres L, Cheng L, Gourley L, Song L, Ubieta L, Habegger L, Ng L, Hauberg M, Onorati M, Webster M, Kundakovic M, Skarica M, Reimers M, Johnson M, Chen M, Garrett M, Sarreal M, Reding M, Gu M, Peters M, Fisher M, Gandal M, Purcaro M, Smith M, Brown M, Shibata M, Brown M, Xu M, Yang M, Ray M, Shapovalova N, Francoeur N, Sjoquist N, Mastan N, Kaur N, Parikshak N, Mosqueda N, Ngo N, Dee N, Ivanov N, Devillers O, Roussos P, Parker P, Manser P, Wohnoutka P, Farnham P, Zandi P, Emani P, Dalley R, Mayani R, Tao R, Gittin R, Straub R, Lifton R, Jacobov R, Howard R, Park R, Dai R, Abramowicz S, Akbarian S, Schreiner S, Ma S, Parry S, Shapouri S, Weissman S, Caldejon S, Mane S, Ding S, Scuderi S, Dracheva S, Butler S, Lisgo S, Rhie S, Lindsay S, Datta S, Souaiaia T, Roychowdhury T, Gomez T, Naluai-Cecchini T, Beach T, Goodman T, Gao T, Dolbeare T, Fliss T, Reddy T, Chen T, Hyde T, Brunetti T, Lemon T, Desta T, Borrman T, Haroutunian V, Spitsyna V, Swarup V, Shi X, Jiang Y, Xia Y, Chen Y, Jiang Y, Wang Y, Chae Y, Yang Y, Kim Y, Riley Z, Krsnik Z, Deng Z, Weng Z, Lin Z, Li Z. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science 2018, 362 PMID: 30545854, PMCID: PMC6413317, DOI: 10.1126/science.aat7615.
  • De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital HydrocephalusFurey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron 2018, 99: 302-314.e4. PMID: 29983323, PMCID: PMC7839075, DOI: 10.1016/j.neuron.2018.06.019.
  • GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic SyndromeHermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal Of The American Society Of Nephrology 2018, 29: 2123-2138. PMID: 29959197, PMCID: PMC6065084, DOI: 10.1681/asn.2017121312.
  • Analysis of shared heritability in common disorders of the brainConsortium T, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Schott J, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Anney R, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica V, Thornton L, Huckins L, Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O’Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Elia J, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Grigoroiu-Serbanescu M, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Edenberg H, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon G, Macciardi F, Madruga-Garrido M, Malaty I, Maras A, McGrath L, Miguel E, Mir P, Nestadt G, Nicolini H, Okun M, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos E, Reus V, Richter M, Riddle M, Robertson M, Roessner V, Rosário M, Samuels J, Sandor P, Stein D, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland J, Wolanczyk T, Worbe Y, Zai G, Goes F, McLaughlin N, Nestadt P, Grabe H, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong S, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy K, Murray R, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders A, Schall U, Schwab S, Sim K, So H, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B. Analysis of shared heritability in common disorders of the brain. Science 2018, 360 PMID: 29930110, PMCID: PMC6097237, DOI: 10.1126/science.aap8757.
  • Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatmentAshraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature Communications 2018, 9: 1960. PMID: 29773874, PMCID: PMC5958119, DOI: 10.1038/s41467-018-04193-w.
  • Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic SyndromeWarejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.
  • A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxvan der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLOS ONE 2018, 13: e0191224. PMID: 29351342, PMCID: PMC5774751, DOI: 10.1371/journal.pone.0191224.
  • 1341P Assessing response to immunotherapy in patients with non-small cell lung cancer using circulating tumor DNAGoldberg S, Narayan A, Kole A, Decker R, Teysir J, Carriero N, Lee A, Nemati R, Nath S, Mane S, Deng Y, Sukumar N, Zelterman D, Boffa D, Politi K, Gettinger S, Wilson L, Herbst R, Patel A. 1341P Assessing response to immunotherapy in patients with non-small cell lung cancer using circulating tumor DNA. Annals Of Oncology 2017, 28: v478. DOI: 10.1093/annonc/mdx380.043.
  • De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosisTimberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.
  • Abstract 24Timberlake A, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks E, Bilguvar K, Tikhonova I, Mane S, Yang J, Sawh-Martinez R, Persing S, Zellner E, Loring E, Chuang C, Galm A, Hashim P, Steinbacher D, DiLuna M, Duncan C, Pelphrey K, Zhao H, Persing J, Lifton R. Abstract 24. Plastic & Reconstructive Surgery Global Open 2017, 5: 19-20. PMCID: PMC5417878, DOI: 10.1097/01.gox.0000516545.88372.7b.
  • Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeSalih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.
  • Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive DisorderMaier R, Moser G, Chen G, Ripke S, Consortium C, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breen G, Breuer R, Bruggeman R, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Cormican P, Corvin A, Coryell W, Craddock N, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Daly M, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Devlin B, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Faraone S, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Geschwind D, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holmans P, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones I, Jones L, Kähler A, Kahn R, Kandaswamy R, Keller M, Kelsoe J, Kendler K, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lee P, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Mattheisen M, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Mowry B, Muglia P, Mühleisen T, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale B, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nurnberger J, Nwulia E, Nyholt D, O’Donovan M, O’Dushlaine C, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Perlis R, Pickard B, Pimm J, Piven J, Posthuma D, Potash J, Poustka F, Propping P, Purcell S, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Ripke S, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Sergeant J, Shi J, Shilling P, Shyn S, Silverman J, Sklar P, Slager S, Smalley S, Smit J, Smith E, Smoller J, Sonuga-Barke E, St Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sullivan P, Sutcliffe J, Szatmari P, Szelinger S, Thapar A, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Tzeng J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weiss L, Weissman M, Werge T, Wienker T, Wiersma D, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Wray N, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Coryell W, Potash J, Scheftner W, Shi J, Weissman M, Hultman C, Landén M, Levinson D, Kendler K, Smoller J, Wray N, Lee S. Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder. American Journal Of Human Genetics 2015, 96: 283-294. PMID: 25640677, PMCID: PMC4320268, DOI: 10.1016/j.ajhg.2014.12.006.
  • T1718 SNP Identification of Common Gene Alterations in Crohn's Disease and Familial Neuroendocrine Tumors: Concordant Expression of Immune-Associated GenesKidd M, Alexandraki K, Kaltsas G, Mane S, Papailiou J, Ioannis K, Piperi C, Drozdov I, Svejda B, Modlin I, Gustafsson B. T1718 SNP Identification of Common Gene Alterations in Crohn's Disease and Familial Neuroendocrine Tumors: Concordant Expression of Immune-Associated Genes. Gastroenterology 2010, 138: s-564. DOI: 10.1016/s0016-5085(10)62596-6.
  • Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndromeBayrakli F, Bilguvar K, Ceyhan D, Ercan‐Sencicek A, Cankaya T, Bayrakli S, Guney I, Mane S, State M, Gunel M. Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics 2010, 77: 499-502. PMID: 20447154, DOI: 10.1111/j.1399-0004.2010.01411.x.
  • 44 High Efficacy of Gene Expression Profiling and Regularized Discriminant Analysis in the Prediction of Neuroendocrine Tumor Subtypes and Their MetastasesDrozdov I, Kidd M, Camp R, Mane S, Gustafsson B, Nadler B, Modlin I. 44 High Efficacy of Gene Expression Profiling and Regularized Discriminant Analysis in the Prediction of Neuroendocrine Tumor Subtypes and Their Metastases. Gastroenterology 2009, 136: a-7. DOI: 10.1016/s0016-5085(09)60034-2.
  • Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007Mani A, Radhakrishnan J, Wang H, Mani A, Mani M, Nelson-Williams C, Carew K, Mane S, Najmabadi H, Wu D, Lifton R. Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007. Journal Of The American Society Of Nephrology 2007, 18: 1619-1623. DOI: 10.1681/asn.2007040522.
  • CTGF, intestinal stellate cells and carcinoid fibrogenesis.Kidd M, Modlin I, Shapiro M, Camp R, Mane S, Usinger W, Murren J. CTGF, intestinal stellate cells and carcinoid fibrogenesis. World Journal Of Gastroenterology 2007, 13: 5208-16. PMID: 17876891, PMCID: PMC4171302, DOI: 10.3748/wjg.v13.i39.5208.
  • geNorm assessment of the efficacy of novel reference genes ALG9 , TFCP2 and ZNF410 compared to GAPDH for real time normalization in GI carcinoidsEick G, Kidd M, Mane S, Nadler B, Champaneria M, Pfragner R, Modlin I. geNorm assessment of the efficacy of novel reference genes ALG9 , TFCP2 and ZNF410 compared to GAPDH for real time normalization in GI carcinoids. Journal Of Clinical Oncology 2006, 24: 20052-20052. DOI: 10.1200/jco.2006.24.18_suppl.20052.
  • Genomic analysis of human gastric ECL cell carcinoid tumorsKidd M, Modlin I, Mane S, Lye K. Genomic analysis of human gastric ECL cell carcinoid tumors. Gastroenterology 2003, 124: a288. DOI: 10.1016/s0016-5085(03)81448-8.
  • Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia.Kothapalli R, Bailey R, Kusmartseva I, Mane S, Epling-Burnette P, Loughran T. Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia. International Journal Of Oncology 2003, 22: 33-9. PMID: 12469182, DOI: 10.3892/ijo.22.1.33.
  • Microarray results: how accurate are they?Kothapalli R, Yoder S, Mane S, Loughran T. Microarray results: how accurate are they? BMC Bioinformatics 2002, 3: 22. PMID: 12194703, PMCID: PMC126254, DOI: 10.1186/1471-2105-3-22.
  • Defining a molecular fingerprint of STAT3-regulated genes associated with oncogenesis using microarray technology and novel statistical methodsSinibaldi D, Garcia R, Bloom G, Mane S, Geiser P, Minton S, Muro-Cacho C, Lazaridis E, Jove R. Defining a molecular fingerprint of STAT3-regulated genes associated with oncogenesis using microarray technology and novel statistical methods. Nature Genetics 2001, 27: 86-86. DOI: 10.1038/87296.
  • Quantitation of the ras gene product in leukemic blast cells using enzymatic staining.Gutheil J, Mane S, Bass K, Lee E, Needleman S. Quantitation of the ras gene product in leukemic blast cells using enzymatic staining. BioTechniques 1990, 9: 212-7. PMID: 2205250.
  • Activation of c-Ki-ras in human gastrointestinal dysplasias determined by direct sequencing of polymerase chain reaction products.Meltzer S, Mane S, Wood P, Resau J, Newkirk C, Terzakis J, Korelitz B, Weinstein W, Needleman S. Activation of c-Ki-ras in human gastrointestinal dysplasias determined by direct sequencing of polymerase chain reaction products. Cancer Research 1990, 50: 3627-30. PMID: 2187599.
  • RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determinationMane S, Meltzer S, Gutheil J, Kapil V, Lee E, Needleman S. RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determination. Genes Chromosomes And Cancer 1990, 2: 71-77. PMID: 2278967, DOI: 10.1002/gcc.2870020113.
  • Sequencing products of the polymerase chain reaction directly, without purification.Meltzer S, Mane S, Wood P, Johnson L, Needleman S. Sequencing products of the polymerase chain reaction directly, without purification. BioTechniques 1990, 8: 142-8. PMID: 2317367.
  • RAS gene product expression in blood and marrow smears of patients with acute leukemia: Importance of fixationNeedleman S, Cimino E, Mane S, Gutheil J, Kapil V, Chana G. RAS gene product expression in blood and marrow smears of patients with acute leukemia: Importance of fixation. Pathology 1990, 22: 77-81. PMID: 2235101, DOI: 10.3109/00313029009063784.
  • Hypereosinophilic syndrome with evolution to myeloproliferative disorder: temporal relationship to loss of Y chromosome and c-N-ras activation.Needleman S, Mane S, Gutheil J, Kapil V, Heyman M, Testa J. Hypereosinophilic syndrome with evolution to myeloproliferative disorder: temporal relationship to loss of Y chromosome and c-N-ras activation. Hematopathology And Molecular Hematology 1990, 4: 149-55. PMID: 2258361.
  • Immunoprecipitation of cell lysates with RAP-5 does not specifically detect ras oncogene product p21Gutheil J, Mane S, Kapil V, Needleman S. Immunoprecipitation of cell lysates with RAP-5 does not specifically detect ras oncogene product p21. Human Pathology 1989, 20: 1176-1180. PMID: 2687155, DOI: 10.1016/s0046-8177(89)80008-5.
  • Infrequent ras activation in chronic myelogenous leukemia (CML): activating 61st codon mutation in the CML-derived cell line, IM-9.Needleman S, Gutheil J, Kapil V, Mane S. Infrequent ras activation in chronic myelogenous leukemia (CML): activating 61st codon mutation in the CML-derived cell line, IM-9. Leukemia 1989, 3: 827-9. PMID: 2682048.
  • c-myc amplification coexistent with activating N-ras point mutation in the biphenotypic leukemic cell line RED-3.Mallet M, Mane S, Meltzer S, Needleman S. c-myc amplification coexistent with activating N-ras point mutation in the biphenotypic leukemic cell line RED-3. Leukemia 1989, 3: 511-5. PMID: 2659902.
  • Purification and characterization of human lysosomal membrane glycoproteinsMane S, Marzella L, Bainton D, Holt V, Cha Y, Hildreth J, August J. Purification and characterization of human lysosomal membrane glycoproteins. Archives Of Biochemistry And Biophysics 1989, 268: 360-378. PMID: 2912382, DOI: 10.1016/0003-9861(89)90597-3.
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