Publications

Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EGhayoor, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JRaza, Ganieva M, Fowler B, Aanicai R, Tayfun GAkay, Saman AAl, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GBahrami, Mohammadi P, Samie S, Banu SHusna, Basto JPinto, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AHameed, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CMarques, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha MEugenia, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JKassem, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 ;147(4):1436-1456.

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. 2024 ;26(3):101034.

Wang Q, Clark KM, Tiwari R, Raju N, Tharp GK, Rogers J, Harris RA, Raveendran M, Bosinger SE, Burdo TH, Silvestri G, Shan L. The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression. Cell. 2024 ;187(5):1223-1237.e16.

Malamon JS, Farrell JJ, Xia LCharlie, Dombroski BA, Das RG, Way J, Kuzma AB, Valladares O, Leung YYee, Scanlon AJ, Lopez IAntonio Ba, Brehony J, Worley KC, Zhang NR, San Wang L-, Farrer LA, Schellenberg GD, Lee W-P, Vardarajan BN. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).

Feng X, Ye Y, Zhang J, Zhang Y, Zhao S, Mak JCW, Otomo N, Zhao Z, Niu Y, Yonezawa Y, Li G, Lin M, Li X, Cheung PWing Hang, Xu K, Takeda K, Wang S, Xie J, Kotani T, Choi VNT, Song Y-Q, Yang Y, Luk KDip Kei, Lee KShing, Li Z, Li PShan, Leung CYH, Lin X, Wang X, Qiu G, Watanabe K, Wu Z, Posey JE, Ikegawa S, Lupski JR, Cheung JPui Yin, Zhang TJianguo, Gao B, Wu N. Core planar cell polarity genes and in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 ;121(18):e2310283121.

Cinciripini PM, Wetter DW, Wang J, Yu R, Kypriotakis G, Kumar T, Robinson JD, Cui Y, Green CE, Bergen AW, Kosten TR, Scherer SE, Shete S. Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample. Sci Rep. 2024 ;14(1):6385.

Yang L, Peery RC, Farmer LM, Gao X, Zhang Y, Creighton CJ, Zhang L, Shen L. Dietary Folate and Cofactors Accelerate Age-dependent p16 Epimutation to Promote Intestinal Tumorigenesis. Cancer Res Commun. 2024 ;4(1):164-169.

Wright A, Wilkinson MD, Mungall C, Cain S, Richards S, Sternberg P, Provin E, Jacobs JL, Geib S, Raciti D, Yook K, Stein L, Molik DC. FAIR Header Reference genome: a TRUSTworthy standard. Brief Bioinform. 2024 ;25(3).

Venner E, Patterson K, Kalra D, Wheeler MM, Chen Y-J, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.

Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E, Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.

Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny DM, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group. JAMA Netw Open. 2024 ;7(3):e244170.

Chen F, Zhang Y, Sedlazeck FJ, Creighton CJ. Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes. Cell Rep Med. 2024 ;5(3):101446.

Wang Z, Peters BA, Yu B, Grove ML, Wang T, Xue X, Thyagarajan B, Daviglus ML, Boerwinkle E, Hu G, Mossavar-Rahmani Y, Isasi CR, Knight R, Burk RD, Kaplan RC, Qi Q. Gut Microbiota and Blood Metabolites Related to Fiber Intake and Type 2 Diabetes. Circ Res. 2024 ;134(7):842-854.

Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny DM, Fatih JM, Yesil G, Elcioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 ;52(4):e18.

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.

Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O'J, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova J-L, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 ;221(6).

Dunn TN, Cope DI, Tang S, Sirupangi T, Parks SE, Liao Z, Yuan F, Creighton CJ, Masand RP, Radilla LAlpuing, Guan X, Detti L, Monsivais D, Matzuk MM. Inhibition of CSF1R and KIT With Pexidartinib Reduces Inflammatory Signaling and Cell Viability in Endometriosis. Endocrinology. 2024 ;165(4).

Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 ;17(1):85.

Mei H, Simino J, Li L, Jiang F, Bis JC, Davies G, W Hill D, Xia C, Gudnason V, Yang Q, Lahti J, Smith JA, Kirin M, De Jager P, Armstrong NJ, Ghanbari M, Kolcic I, Moran C, Teumer A, Sargurupremraj M, Mahmud S, Fornage M, Zhao W, Satizabal CL, Polasek O, Räikkönen K, Liewald DC, Homuth G, Callisaya M, Mather KA, B Windham G, Zemunik T, Palotie A, Pattie A, van der Auwera S, Thalamuthu A, Knopman DS, Rudan I, Starr JM, Wittfeld K, Kochan NA, Griswold ME, Vitart V, Brodaty H, Gottesman R, Cox SR, Psaty BM, Boerwinkle E, Chasman DI, Grodstein F, Sachdev PS, Srikanth V, Hayward C, Wilson JF, Eriksson JG, Kardia SLR, Grabe HJ, Bennett DA, M Ikram A, Deary IJ, van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S, Bressler J, Debette S, Mosley TH. Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimers Res Ther. 2024 ;16(1):14.

Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 ;16(1):53.

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.

Bhola PT, Mishra R, Posey JE, Hamilton LE, Graham GE, Punetha J, Lupski JR, Boycott KM, D'Amours D, Kernohan KD. Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. Am J Med Genet A. 2024 ;194(3):e63455.

Alkis T, Luo X, Wall K, Brody J, Bartz T, Chang PP, Norby FL, Hoogeveen RC, Morrison AC, Ballantyne CM, Coresh J, Boerwinkle E, Psaty BM, Shah AM, Yu B. A polygenic risk score of atrial fibrillation improves prediction of lifetime risk for heart failure. ESC Heart Fail. 2024 ;11(2):1086-1096.

Fu S, Alhaj Z, Huynh D. Prevalence of primary chronic lymphocytic leukemia in the United States: a cross-sectional study using the database. Leuk Lymphoma. 2024 ;65(4):541-542.

Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?. Genet Med. 2024 ;26(2):101033.