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Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, McDonald M-LN, Regan EA, Silverman EK, Liu C-T, Vasan RS, Kalyani RR, Mathias RA, Yanek LR, Arnett DK, Justice AE, North KE, Kaplan R, Heckbert SR, de Andrade M, Guo X, Lange LA, Rich SS, Rotter JI, Ellinor PT, Lubitz SA, Blangero J, M Shoemaker B, Darbar D, Gladwin MT, Albert CM, Chasman DI, Jackson RD, Kooperberg C, Reiner AP, O'Reilly PF, Loos RJF. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.
Livak KJ, Rogers J, Lichter JB. Variability of dopamine D4 receptor (DRD4) gene sequence within and among nonhuman primate species. Proc Natl Acad Sci U S A. 1995 ;92(2):427-31.
da Palma MMatioli, Vargas ME, Burr A, Chen R, Pennesi ME, Weleber RG, Yang P. Variable expressivity of -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree. BMJ Open Ophthalmol. 2021 ;6(1):e000813.
Olson ND, Wagner J, Dwarshuis N, Miga KH, Sedlazeck FJ, Salit M, Zook JM. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKatherine, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H, Jarvik GP. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 2020 ;107(5):932-941.
Rodrigues Eda S, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 ;43(6):782-790.
Shetty PB, Tang H, Feng T, Tayo B, Morrison AC, Kardia SLR, Hanis CL, Arnett DK, Hunt SC, Boerwinkle E, Rao DC, Cooper RS, Risch N, Zhu X. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet. 2015 ;8(1):106-13.
Swierkowska J, Karolak JA, Gambin T, Rydzanicz M, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Lupski JR, Gajecka M. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 ;66(1):192-198.
Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MReza. Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 ;38(3):687-695.
Karolak JA, Gambin T, Pitarque JA, Molinari A, Jhangiani S, Stankiewicz P, Lupski JR, Gajecka M. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 ;25(1):73-78.
Shepherdson JL, Hutchison K, Don DWellalage, McGillivray G, Choi T-I, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DAlexis, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, A Innes M, Isidor B, Jackson A, Katsonis P, Kesh LAmel Riaza, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LHen, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim C-H, Shinawi M. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 ;111(3):487-508.
Luo S, Surapaneni A, Zheng Z, Rhee EP, Coresh J, Hung AM, Nadkarni GN, Yu B, Boerwinkle E, Tin A, Arking DE, Steinbrenner I, Schlosser P, Köttgen A, Grams ME. Variants, N-Acetylated Amino Acids, and Progression of CKD. Clin J Am Soc Nephrol. 2020 ;16(1):37-47.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RAbou, Schlump J-U, DeMille D, Bayrak-Toydemir P, Nelson GRex, Wong KNicole, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅsmund My, Smeland MFalkenberg, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZghal, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv. 2024 ;.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RAbou, Schlump J-U, DeMille D, Bayrak-Toydemir P, Nelson GRex, Wong KNicole, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅsmund My, Smeland MFalkenberg, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZghal, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 ;16(1):72.
Krannich T, Sarrias MHerrera, Ben Aribi H, Shokrof M, Iacoangeli A, Al-Chalabi A, Sedlazeck FJ, Busby B, Khleifat AAl. VariantSurvival: a tool to identify genotype-treatment response. Front Bioinform. 2023 ;3:1277923.
Egan MF, Straub RE, Goldberg TE, Yakub I, Callicott JH, Hariri AR, Mattay VS, Bertolino A, Hyde TM, Shannon-Weickert C, Akil M, Crook J, Vakkalanka RKrishna, Balkissoon R, Gibbs RA, Kleinman JE, Weinberger DR. Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia. Proc Natl Acad Sci U S A. 2004 ;101(34):12604-9.
Melin AD, Orkin JD, Janiak MC, Valenzuela A, Kuderna L, Marrone F, Ramangason H, Horvath JE, Roos C, Kitchener AC, Khor CChuen, Lim WKhong, Lee JGH, Tan P, Umapathy G, Raveendran M, Harris RA, Gut I, Gut M, Lizano E, Nadler T, Zinner D, Le MD, Manu S, Rabarivola CJ, Zaramody A, Andriaholinirina N, Johnson SE, Jarvis ED, Fedrigo O, Wu D, Zhang G, Farh KKai-How, Rogers J, Marques-Bonet T, Navarro A, Juan D, Arora PS, Higham JP. Variation in predicted COVID-19 risk among lemurs and lorises. Am J Primatol. 2021 ;83(6):e23255.
Leung YYee, Valladares O, Chou Y-F, Lin H-J, Kuzma AB, Cantwell L, Qu L, Gangadharan P, Salerno WJ, Schellenberg GD, San Wang L-. VCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project. Bioinformatics. 2019 ;35(10):1768-1770.
Sifri CD, Mylonakis E, Singh KV, Qin X, Garsin DA, Murray BE, Ausubel FM, Calderwood SB. Virulence effect of Enterococcus faecalis protease genes and the quorum-sensing locus fsr in Caenorhabditis elegans and mice. Infect Immun. 2002 ;70(10):5647-50.
James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 ;8(1):13.
Doddapaneni H, Lin H, M Walker A, Yao J, Civerolo EL. VitisExpDB: a database resource for grape functional genomics. BMC Plant Biol. 2008 ;8:23.
Fu Y, Mahmoud M, Muraliraman VVaibhav, Sedlazeck FJ, Treangen TJ. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 ;10(9).
Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 ;158A(11):2917-24.
Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 ;158A(3):622-5.
Pruitt KD. WebWise: guide to the Baylor College of Medicine Human Genome Sequencing Center's web site. Genome Res. 1998 ;8(3):170-4.