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Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu Y-Q, Muzny DM, Cheung SWai, Gibbs RA, Ramocki MB. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 ;155A(9):2071-7.
Karaca E, Buyukkaya R, Pehlivan D, Charng W-L, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 ;100(1):E140-7.
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen M-H, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJA, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen L-P, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 ;99(2):481-8.
Ramasamy R, M Bakırcıoğlu E, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 ;104(2):286-91.
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.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
Bekheirnia MReza, Bekheirnia N, Bainbridge MN, Gu S, Akdemir ZHande Coba, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RAlan, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 ;19(4):412-420.
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, B Geckinli B, Karaman A, Jhangiani SN, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 ;22(9):1145-8.
Pankratz N, Wei P, Brody JA, Chen M-H, de Vries PS, Huffman JE, Stimson MRachel, Auer PL, Boerwinkle E, Cushman M, de Maat MPM, Folsom AR, Franco OH, Gibbs RA, Haagenson KK, Hofman A, Johnsen JM, Kovar CL, Kraaij R, McKnight B, Metcalf GA, Muzny DM, Psaty BM, Tang W, Uitterlinden AG, van Rooij JGJ, Dehghan A, O'Donnell CJ, Reiner AP, Morrison AC, Smith NL. Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 ;31(18):3120-3132.
Wang L, Tsutsumi S, Kawaguchi T, Nagasaki K, Tatsuno K, Yamamoto S, Sang F, Sonoda K, Sugawara M, Saiura A, Hirono S, Yamaue H, Miki Y, Isomura M, Totoki Y, Nagae G, Isagawa T, Ueda H, Murayama-Hosokawa S, Shibata T, Sakamoto H, Kanai Y, Kaneda A, Noda T, Aburatani H. Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res. 2012 ;22(2):208-19.
Wang L, Swierczek SI, Drummond J, Hickman K, Kim SJ, Walker K, Doddapaneni H, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT. Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 2014 ;28(4):935-8.
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BWM, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X. Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.
Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SShahrukh, Gupta-Malhotra M. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 ;2(6):a001255.
Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, Song X, Lin J, Du R, Zhou Y, Sugimoto M, Chen W, Yuan B, Liu J, Yan Z, Liu B, Zhang Y, Li X, Niu Y, Long B, Shen Y, Zhang S, Abe K, Su J, Wu Z, Wu N, Liu P, Yang X. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
Retshabile G, Mlotshwa BC, Williams L, Mwesigwa S, Mboowa G, Huang Z, Rustagi N, Swaminathan S, Katagirya E, Kyobe S, Wayengera M, Kisitu GP, Kateete DP, Wampande EM, Maplanka K, Kasvosve I, Pettitt ED, Matshaba M, Nsangi B, Marape M, Tsimako-Johnstone M, Brown CW, Yu F, Kekitiinwa A, Joloba M, Mpoloka SW, Mardon G, Anabwani G, Hanchard NA. Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. Am J Hum Genet. 2018 ;102(5):731-743.
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf GA, Franceschini N, Tin A, Köttgen A, Francis M, Brody JA, Kestenbaum B, Sitlani CM, Mychaleckyj JC, Kramer H, Lange LA, Guo X, Hwang S-J, Irvin MR, Smith JA, Yanek LR, Vaidya D, Chen Y-DIda, Fornage M, Lloyd-Jones DM, Hou L, Mathias RA, Mitchell BD, Peyser PA, Kardia SLR, Arnett DK, Correa A, Raffield LM, Vasan RS, L Cupple A, Levy D, Kaplan RC, North KE, Rotter JI, Kooperberg C, Reiner AP, Psaty BM, Tracy RP, Gibbs RA, Morrison AC, Feldman H, Boerwinkle E, He J, Kelly TN. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, Liang J, Lin X, Mei H, Patel SR, Purcell SM, Saxena R, Shah NA, Evans DS, Hanis CL, Hillman DR, Mukherjee S, Palmer LJ, Stone KL, Tranah GJ, Abecasis GR, Boerwinkle E, Correa A, L Cupples A, Kaplan RC, Nickerson DA, North KE, Psaty BM, Rotter JI, Rich SS, Tracy RP, Vasan RS, Wilson JG, Zhu X, Redline S. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 ;13(1):136.
Scarpa A, Chang DK, Nones K, Corbo V, Patch A-M, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, Cingarlini S, Vicentini C, McKay S, Quinn MCJ, Bruxner TJC, Christ AN, Harliwong I, Idrisoglu S, McLean S, Nourse C, Nourbakhsh E, Wilson PJ, Anderson MJ, J Fink L, Newell F, Waddell N, Holmes O, Kazakoff SH, Leonard C, Wood S, Xu Q, Nagaraj SHiriyur, Amato E, Dalai I, Bersani S, Cataldo I, Tos APDei, Capelli P, Davì MVittoria, Landoni L, Malpaga A, Miotto M, Whitehall VLJ, Leggett BA, Harris JL, Harris J, Jones MD, Humphris J, Chantrill LA, Chin V, Nagrial AM, Pajic M, Scarlett CJ, Pinho A, Rooman I, Toon C, Wu J, Pinese M, Cowley M, Barbour A, Mawson A, Humphrey ES, Colvin EK, Chou A, Lovell JA, Jamieson NB, Duthie F, Gingras M-C, Fisher WE, Dagg RA, Lau LMS, Lee M, Pickett HA, Reddel RR, Samra JS, Kench JG, Merrett ND, Epari K, Nguyen NQ, Zeps N, Falconi M, Simbolo M, Butturini G, Van Buren G, Partelli S, Fassan M, Khanna KKum, Gill AJ, Wheeler DA, Gibbs RA, Musgrove EA, Bassi C, Tortora G, Pederzoli P, Pearson JV, Waddell N, Biankin AV, Grimmond SM. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
Morrison AC, Voorman A, Johnson AD, Liu X, Yu J, Li A, Muzny D, Yu F, Rice K, Zhu C, Bis J, Heiss G, O'Donnell CJ, Psaty BM, L Cupples A, Gibbs R, Boerwinkle E. Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 ;45(8):899-901.
Venner E, Muzny DM, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C, Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med. 2022 ;14(1):34.
Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras M-C, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DRio, C Y Chen D, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
Duvdevani MPlesser, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 ;182(5):1143-1151.
de Vries PS, Yu B, Feofanova EV, Metcalf GA, Brown MR, Zeighami AL, Liu X, Muzny DM, Gibbs RA, Boerwinkle E, Morrison AC. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 ;26(17):3442-3450.