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 ResearchConceptsExome 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
2018
Analysis of shared heritability in common disorders of the brain
Consortium 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, DOI: 10.1126/science.aap8757.Peer-Reviewed Original ResearchConceptsPsychiatric disordersBrain disordersCommon variant riskRisk factorsCommon disorderNeurological disordersDiagnostic misclassificationBrain phenotypesCommon genetic variationControl participantsDisordersVariant riskPhenotypic heterogeneityBrainEtiologic overlapGenetic sharingGenome-wide association studiesCognitive measuresAssociation studiesPhenotype
2007
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
Mani 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.Peer-Reviewed Original Research
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