Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.

Cheng J, Li T, Tan Q, Fu J, Zhang L, Yang L, Zhou B, Yang L, Fu S, Linehan AGrace, Fu J. Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree. J Cell Mol Med. 2024 ;28(1):e18004.

Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.

Fuentes Lde Las, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJu, Munroe PB, Miller CL, Aschard H, Aslibekyan S, Bartz TM, Bielak LF, Chai JFang, Cheng C-Y, Dorajoo R, Feitosa MF, Guo X, Hartwig FP, Horimoto A, Kolcic I, Lim E, Liu Y, Manning AK, Marten J, Musani SK, Noordam R, Padmanabhan S, Rankinen T, Richard MA, Ridker PM, Smith AV, Vojinovic D, Zonderman AB, Alver M, Boissel M, Christensen K, Freedman BI, Gao C, Giulianini F, Harris SE, He M, Hsu F-C, Kühnel B, Laguzzi F, Li X, Lyytikäinen L-P, Nolte IM, Poveda A, Rauramaa R, Riaz M, Robino A, Sofer T, Takeuchi F, Tayo BO, van der Most PJ, Verweij N, Ware EB, Weiss S, Wen W, Yanek LR, Zhan Y, Amin N, Arking DE, Ballantyne C, Boerwinkle E, Brody JA, Broeckel U, Campbell A, Canouil M, Chai X, Chen Y-DIda, Chen X, Chitrala KNaidu, Concas MPina, de Faire U, de Mutsert R, H de Silva J, de Vries PS, Do A, Faul JD, Fisher V, Floyd JS, Forrester T, Friedlander Y, Girotto G, C Gu C, Hallmans G, Heikkinen S, Heng C-K, Homuth G, Hunt S, M Ikram A, Jacobs DR, Kavousi M, Khor CChuen, Kilpeläinen TO, Koh W-P, Komulainen P, Langefeld CD, Liang J, Liu K, Liu J, Lohman K, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Milaneschi Y, Nauck M, Nelson CP, O'Connell JR, Palmer ND, Pereira AC, Perls T, Peters A, Polasek O, Raitakari OT, Rice K, Rice TK, Rich SS, Sabanayagam C, Schreiner PJ, Shu X-O, Sidney S, Sims M, Smith JA, Starr JM, Strauch K, E Tai S, Taylor KD, Tsai MY, Uitterlinden AG, van Heemst D, Waldenberger M, Wang Y-X, Bin Wei W-, Wilson G, Xuan D, Yao J, Yu C, Yuan J-M, Zhao W, Becker DM, Bonnefond A, Bowden DW, Cooper RS, Deary IJ, Divers J, Esko T, Franks PW, Froguel P, Gieger C, Jonas JB, Kato N, Lakka TA, Leander K, Lehtimäki T, Magnusson PKE, North KE, Ntalla I, Penninx B, Samani NJ, Snieder H, Spedicati B, van der Harst P, Völzke H, Wagenknecht LE, Weir DR, Wojczynski MK, Wu T, Zheng W, Zhu X, Bouchard C, Chasman DI, Evans MK, Fox ER, Gudnason V, Hayward C, Horta BL, Kardia SLR, Krieger JEduardo, Mook-Kanamori DO, Peyser PA, Province MM, Psaty BM, Rudan I, Sim X, Smith BH, van Dam RM, van Duijn CM, Wong TYin, Arnett DK, Rao DC, Gauderman J, Liu C-T, Morrison AC, Rotter JI, Fornage M. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Front Genet. 2023 ;14:1235337.

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EGhayoor, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MHasan, Zeighami J, Heydaran S, Toosi MBeiraghi, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2023 ;26(3):101034.

Identification of constrained sequence elements across 239 primate genomes.

Kuderna LFK, Ulirsch JC, Rashid S, Ameen M, Sundaram L, Hickey G, Cox AJ, Gao H, Kumar A, Aguet F, Christmas MJ, Clawson H, Haeussler M, Janiak MC, Kuhlwilm M, Orkin JD, Bataillon T, Manu S, Valenzuela A, Bergman J, Rouselle M, Silva FEnnes, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, Schraiber JG, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, Valsecchi J, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Nadler T, Khor CChuen, Lee J, Tan P, Lim WKhong, Kitchener AC, Zinner D, Gut I, Melin AD, Guschanski K, Schierup MHeide, Beck RMD, Karakikes I, Wang KC, Umapathy G, Roos C, Boubli JP, Siepel A, Kundaje A, Paten B, Lindblad-Toh K, Rogers J, Bonet TMarques, Farh KKai-How. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.

Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis.

Hasbani NR, Westerman KE, Kwak SHeon, Chen H, Li X, Di Corpo D, Wessel J, Bis JC, Sarnowski C, Wu P, Bielak LF, Guo X, Heard-Costa N, Kinney GL, Mahaney MC, Montasser ME, Palmer ND, Raffield LM, Terry JG, Yanek LR, Bon J, Bowden DW, Brody JA, Duggirala R, Jacobs DR, Kalyani RR, Lange LA, Mitchell BD, Smith JA, Taylor KD, Carson AP, Curran JE, Fornage M, Freedman BI, Gabriel S, Gibbs RA, Gupta N, Kardia SLR, Kral BG, Momin Z, Newman AB, Post WS, Viaud-Martinez KA, Young KA, Becker LC, Bertoni AG, Blangero J, Carr JJ, Pratte K, Psaty BM, Rich SS, Wu JC, Malhotra R, Peyser PA, Morrison AC, Vasan RS, Lin X, Rotter JI, Meigs JB, Manning AK, de Vries PS. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.

Breast Cancer Detection with an Ensemble of Deep Learning Networks Using a Consensus-Adaptive Weighting Method.

Rouzi MDehghan, Moshiri B, Khoshnevisan M, Akhaee MAli, Jaryani F, Nasab SSalehi, Lee M. Breast Cancer Detection with an Ensemble of Deep Learning Networks Using a Consensus-Adaptive Weighting Method. J Imaging. 2023 ;9(11).