Publications

Export 61 results:
Filters: Keyword is Membrane Proteins  [Clear All Filters]
2023
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny DM, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;191(6):1546-1556.
2022
Chung H-L, Rump P, Lu D, Glassford MR, Mok J-W, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg E-J, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 ;31(19):3231-3244.
Taşdelen E, Calame DG, Akay G, Mitani T, Fatih JM, Herman I, Du H, Coban-Akdemir Z, Marafi D, Jhangiani SN, Posey JE, Gibbs RA, Altıparmak T, Kutlay NYürür, Lupski JR, Pehlivan D. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 ;188(7):2153-2161.
2021
Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 ;8(10):2052-2058.
Anjani G, Jindal AKumar, Prithvi A, Kaur A, Rawat A, Sharma M, Yuan B, Chinn IK, Singh S. Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol. 2021 ;41(1):209-211.
Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZCoban, Jhangiani SN, Lupski JR, Baple EL, Crosby AH. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 ;82:84-86.
Yap ZYie, Park YHan, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black EDavis, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WHee. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 ;13(1):55.
Wong HHui, Seet SHwee, Maier M, Gurel A, Traspas RMoreno, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TShin, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Men DUğurlu Ç, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NAin, Choo SChin, Keng SSok, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TThao Nguye, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GTaj, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova J-L, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
Liang Q, Wu N, Zaneveld S, Liu H, Fu S, Wang K, Bertrand R, Wang J, Li Y, Chen R. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 ;30(21):1907-1918.
2020
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M. A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest. 2020 ;130(8):4118-4132.
Chen C-A, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 ;29(3):459-470.
Sabo A, Murdock DR, Dugan S, Meng Q, Gingras M-C, Hu J, Muzny DM, Gibbs RA. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med. 2020 ;8(10):e1439.
Luo W, Wang Y, Zhang L, Ren P, Zhang C, Li Y, Azares AR, Zhang M, Guo J, Ghaghada KB, Starosolski ZA, Rajapakshe K, Coarfa C, Li Y, Chen R, Fujiwara K, Abe J-I, Coselli JS, Milewicz DM, LeMaire SA, Shen YH. Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 2020 ;141(1):42-66.
Cook SA, Comrie WA, M Poli C, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, D Anderson E, Price S, Smelkinson M, Chahla WAbou, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Hassani MAl, Kaabi NAl, Yafei ZAl, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, V Rao K, Chinn IK, Lenardo MJ. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 ;369(6500):202-207.
Devlin DJ, Zaneveld SAgrawal, Nozawa K, Han X, Moye AR, Liang Q, Harnish JMichael, Matzuk MM, Chen R. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†. Biol Reprod. 2020 ;102(6):1234-1247.
Gunning AC, Strucinska K, Oreja MMuñoz, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Pelayo UFernandez, Jones AWE, Taylor RW, Misra VK, Yoon WHee, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 ;106(2):272-279.
2019
Zaneveld SAgrawal, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, Nguyen Q, Zaneveld J, Wang K, Li Y, Chen R. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
Berauer J-P, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 ;70(3):899-910.
Sung YJu, Fuentes Lde Las, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR, Guo X, Schwander K, Manning AK, Brown MR, Aschard H, Feitosa MF, Franceschini N, Lu Y, Cheng C-Y, Sim X, Vojinovic D, Marten J, Musani SK, Kilpeläinen TO, Richard MA, Aslibekyan S, Bartz TM, Dorajoo R, Li C, Liu Y, Rankinen T, Smith AVernon, Tajuddin SM, Tayo BO, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JFang, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu F-C, Jackson AU, Kammerer CM, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lee W-J, Lin K-H, Luan J'an, Lyytikäinen L-P, McKenzie CA, Nelson CP, Noordam R, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Waken RJ, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JHua, Afaq S, Alfred T, Amin N, Arking DE, Aung T, R Barr G, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cade B, Campbell A, Canouil M, Chakravarti A, Cocca M, Collins FS, Connell JM, de Mutsert R, H de Silva J, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Forouhi NG, Franco OH, Friedlander Y, Gao H, Gigante B, C Gu C, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng C-K, Hofman A, Howard BV, Hunt SC, Irvin MR, Jia Y, Katsuya T, Kaufman J, Kerrison ND, Khor CChuen, Koh W-P, Koistinen HA, Kooperberg CB, Krieger JE, Kubo M, Kutalik Z, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lee JH, Lehne B, Levy D, Lewis CE, Li Y, Lim SHui, Liu C-T, Liu J, Liu J, Liu Y, Loh M, Lohman KK, Louie T, Mägi R, Matsuda K, Meitinger T, Metspalu A, Milani L, Momozawa Y, Mosley TH, Nalls MA, Nasri U, O'Connell JR, Ogunniyi A, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous D, Raitakari OT, Renstrom F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Sims M, Sitlani CM, Smith BH, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YYing, Tham YChung, Uitterlinden AG, Waldenberger M, Wang L, Wang YXing, Bin Wei W, Wilson G, Wojczynski MK, Xiang Y-B, Yao J, Yuan J-M, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen Y-DIda, Weir DR, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BLessa, Hung Y-J, Jonas JBruno, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang K-W, Magnusson PKE, Oldehinkel AJ, Pereira AC, Perls T, Rauramaa R, Redline S, Rettig R, Samani NJ, Scott J, Shu X-O, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Wickremasinghe AR, Wu T, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Hixson J, Kardia SLR, Kritchevsky SB, Psaty BM, van Dam RM, Arnett DK, Mook-Kanamori DO, Fornage M, Fox ER, Hayward C, van Duijn CM, E Tai S, Wong TYin, Loos RJF, Reiner AP, Rotimi CN, Bierut LJ, Zhu X, L Cupples A, Province MA, Rotter JI, Franks PW, Rice K, Elliott P, Caulfield MJ, W Gauderman J, Munroe PB, Rao DC, Morrison AC. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Hum Mol Genet. 2019 ;28(15):2615-2633.
Kilpeläinen TO, Bentley AR, Noordam R, Sung YJu, Schwander K, Winkler TW, Jakupović H, Chasman DI, Manning A, Ntalla I, Aschard H, Brown MR, Fuentes Lde Las, Franceschini N, Guo X, Vojinovic D, Aslibekyan S, Feitosa MF, Kho M, Musani SK, Richard M, Wang H, Wang Z, Bartz TM, Bielak LF, Campbell A, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Li C, Lohman KK, Marten J, Sim X, Smith AV, Tajuddin SM, Alver M, Amini M, Boissel M, Chai JFang, Chen X, Divers J, Evangelou E, Gao C, Graff M, Harris SE, He M, Hsu F-C, Jackson AU, Zhao JHua, Kraja AT, Kühnel B, Laguzzi F, Lyytikäinen L-P, Nolte IM, Rauramaa R, Riaz M, Robino A, Rueedi R, Stringham HM, Takeuchi F, van der Most PJ, Varga TV, Verweij N, Ware EB, Wen W, Li X, Yanek LR, Amin N, Arnett DK, Boerwinkle E, Brumat M, Cade B, Canouil M, Chen Y-DIda, Concas MPina, Connell J, de Mutsert R, H de Silva J, de Vries PS, Demirkan A, Ding J, Eaton CB, Faul JD, Friedlander Y, Gabriel KP, Ghanbari M, Giulianini F, Gu CCharles, Gu D, Harris TB, He J, Heikkinen S, Heng C-K, Hunt SC, M Ikram A, Jonas JB, Koh W-P, Komulainen P, Krieger JE, Kritchevsky SB, Kutalik Z, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Leander K, Lemaitre RN, Lewis CE, Liang J, Liu J, Mägi R, Manichaikul A, Meitinger T, Metspalu A, Milaneschi Y, Mohlke KL, Mosley TH, Murray AD, Nalls MA, Nang E-EKhaing, Nelson CP, Nona S, Norris JM, Nwuba CVivian, O'Connell J, Palmer ND, Papanicolau GJ, Pazoki R, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous DJ, Poveda A, Raitakari OT, Rich SS, Risch N, Robinson JG, Rose LM, Rudan I, Schreiner PJ, Scott RA, Sidney SS, Sims M, Smith JA, Snieder H, Sofer T, Starr JM, Sternfeld B, Strauch K, Tang H, Taylor KD, Tsai MY, Tuomilehto J, Uitterlinden AG, M van der Ende Y, van Heemst D, Voortman T, Waldenberger M, Wennberg P, Wilson G, Xiang Y-B, Yao J, Yu C, Yuan J-M, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, de Faire U, Deary IJ, Elliott P, Esko T, Freedman BI, Froguel P, Gasparini P, Gieger C, Kato N, Laakso M, Lakka TA, Lehtimäki T, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Samani NJ, Shu X-O, van der Harst P, Van Vliet-Ostaptchouk JV, Vollenweider P, Wagenknecht LE, Wang YX, Wareham NJ, Weir DR, Wu T, Zheng W, Zhu X, Evans MK, Franks PW, Gudnason V, Hayward C, Horta BL, Kelly TN, Liu Y, North KE, Pereira AC, Ridker PM, E Tai S, van Dam RM, Fox ER, Kardia SLR, Liu C-T, Mook-Kanamori DO, Province MA, Redline S, van Duijn CM, Rotter JI, Kooperberg CB, W Gauderman J, Psaty BM, Rice K, Munroe PB, Fornage M, L Cupples A, Rotimi CN, Morrison AC, Rao DC, Loos RJF. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nat Commun. 2019 ;10(1):376.
Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell. 2019 ;51(6):713-729.e6.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
2018
Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 ;23(4):1112-1123.
Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 ;97(1):49-59.
2017
Sabo A, Mishra P, Dugan-Perez S, V Voruganti S, Kent JW, Kalra D, Cole SA, Comuzzie AG, Muzny DM, Gibbs RA, Butte NF. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.