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Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SMohammad, Mohammadi SAhmad, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 ;31(8):905-917.
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).
Liu D, Ho M-F, Schaid DJ, Scherer SE, Kalari K, Liu M, Biernacka J, Yee V, Evans J, Carlson E, Goetz MP, Kubo M, D Wickerham L, Wang L, Ingle JN, Weinshilboum RM. Breast cancer chemoprevention pharmacogenomics: Deep sequencing and functional genomics of the and genes. NPJ Breast Cancer. 2017 ;3:30.
Plon SE. BRCA1/2 population screening: embracing the benefits. Curr Oncol. 2015 ;22(4):e230-1.
Woehrer A, Lau CC, Prayer D, Bauchet L, Rosenfeld M, Capper D, Fisher PG, Kool M, Müller M, Kros JM, Kruchko C, Wiemels J, Wrensch M, Danysh HE, Zouaoui S, Heck JE, Johnson KJ, Qi X, O'Neill BP, Afzal S, Scheurer ME, Bainbridge MN, Nousome D, Bahassi EMustapha, Hainfellner JA, Barnholtz-Sloan JS. Brain Tumor Epidemiology - A Hub within Multidisciplinary Neuro-oncology. Report on the 15th Brain Tumor Epidemiology Consortium (BTEC) Annual Meeting, Vienna, 2014. Clin Neuropathol. 2015 ;34(1):40-6.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EGhayoor, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HYin, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MBeiraghi, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TSreenivasa, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Ceroni JRicardo Ma, Kim CAe, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Manshadi SAli Madani, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023 ;25(1):90-102.
Lupski JR. Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 ;72(8):617-9.
Liu Y, Qin X, Song X-ZHenry, Jiang H, Shen Y, K Durbin J, Lien S, Kent MPeter, Sodeland M, Ren Y, Zhang L, Sodergren E, Havlak P, Worley KC, Weinstock GM, Gibbs RA. Bos taurus genome assembly. BMC Genomics. 2009 ;10:180.
Sá ACaroline C, Webb A, Gong Y, McDonough CW, Shahin MH, Datta S, Langaee TY, Turner ST, Beitelshees AL, Chapman AB, Boerwinkle E, Gums JG, Scherer SE, Cooper-Dehoff RM, Sadee W, Johnson JA. Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies. BMC Med Genomics. 2018 ;11(1):55.
He S, Granot-Hershkovitz E, Zhang Y, Bressler J, Tarraf W, Yu B, Huang T, Zeng D, Wassertheil-Smoller S, Lamar M, Daviglus M, Marquine MJ, Cai J, Mosley T, Kaplan R, Boerwinkle E, Fornage M, DeCarli C, Kristal B, Gonzalez HM, Sofer T. Blood metabolites predicting mild cognitive impairment in the study of Latinos-investigation of neurocognitive aging (HCHS/SOL). Alzheimers Dement (Amst). 2022 ;14(1):e12259.
Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, Salfati E, Brody JA, Fiorito G, Bressler J, Chen BH, Ligthart S, Guarrera S, Colicino E, Just AC, Wahl S, Gieger C, Vandiver AR, Tanaka T, Hernandez DG, Pilling LC, Singleton AB, Sacerdote C, Krogh V, Panico S, Tumino R, Li Y, Zhang G, Stewart JD, Floyd JS, Wiggins KL, Rotter JI, Multhaup M, Bakulski K, Horvath S, Tsao PS, Absher DM, Vokonas P, Hirschhorn J, M Fallin D, Liu C, Bandinelli S, Boerwinkle E, Dehghan A, Schwartz JD, Psaty BM, Feinberg AP, Hou L, Ferrucci L, Sotoodehnia N, Matullo G, Peters A, Fornage M, Assimes TL, Whitsel EA, Levy D, Baccarelli AA. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 ;140(8):645-657.
Rahbar MH, Samms-Vaughan M, Dickerson AS, Loveland KA, Ardjomand-Hessabi M, Bressler J, Shakespeare-Pellington S, Grove ML, Pearson DA, Boerwinkle E. Blood lead concentrations in Jamaican children with and without autism spectrum disorder. Int J Environ Res Public Health. 2014 ;12(1):83-105.
Afonso PP, Silva PM, Schnellrath LC, Jesus DM, Hu J, Yang Y, Renne R, Attias M, Condit RC, Moussatché N, Damaso CR. Biological characterization and next-generation genome sequencing of the unclassified Cotia virus SPAn232 (Poxviridae). J Virol. 2012 ;86(9):5039-54.
Allen CE, D Parsons W. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015 ;2015:559-64.
Levenson JM, Choi S, Lee S-Y, Cao YAnna, Ahn HJin, Worley KC, Pizzi M, Liou H-C, J Sweatt D. A bioinformatics analysis of memory consolidation reveals involvement of the transcription factor c-rel. J Neurosci. 2004 ;24(16):3933-43.
Jin P, Zarnescu DC, Ceman S, Nakamoto M, Mowrey J, Jongens TA, Nelson DL, Moses K, Warren ST. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004 ;7(2):113-7.
Zhou JH, Sahin AA, Myers JN. Biobanking in genomic medicine. Arch Pathol Lab Med. 2015 ;139(6):812-8.
Niu T, Smith DL, Yang Z, Gao S, Yin T, Jiang Z-H, You M, Gibbs RA, Petrosino JF, Hu M. Bioactivity and bioavailability of ginsenosides are dependent on the glycosidase activities of the A/J mouse intestinal microbiome defined by pyrosequencing. Pharm Res. 2013 ;30(3):836-46.
Sofer T, Lee J, Kurniansyah N, Jain D, Laurie CA, Gogarten SM, Conomos MP, Heavner B, Hu Y, Kooperberg C, Haessler J, Vasan RS, L Cupples A, Coombes BJ, Seyerle A, Gharib SA, Chen H, O'Connell JR, Zhang M, Gottlieb DJ, Psaty BM, Longstreth WT, Rotter JI, Taylor KD, Rich SS, Guo X, Boerwinkle E, Morrison AC, Pankow JS, Johnson AD, Pankratz N, Reiner AP, Redline S, Smith NL, Rice KM, Schifano ED. BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. HGG Adv. 2021 ;2(3).
Yu Z, Coresh J, Qi G, Grams M, Boerwinkle E, Snieder H, Teumer A, Pattaro C, Köttgen A, Chatterjee N, Tin A. A bidirectional Mendelian randomization study supports causal effects of kidney function on blood pressure. Kidney Int. 2020 ;98(3):708-716.
Barish S, Barakat TStefan, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SAnn, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen C-A, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 ;107(6):1096-1112.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee J-S, Giong H-K, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 ;10(1):708.
Calame DG, Wong JHuixin, Panda P, Nguyen DTuan, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, Alabdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab MEbrahimi, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HReza, Eghbal F, Karimiani EGhayoor, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, M Manzini C, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LNam. Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 ;.
Burrage LC, Reynolds JJ, Baratang NVida, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny DM, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
Lecca M, Pehlivan D, Suñer DHeine, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MPaola, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JEllen, Bayramoglu SEtka, Gezdirici A, Hernandez-Rodriguez J, Cladera EAmengual, Miravet E, Roldan-Busto J, Ruiz MAngeles, Bauzá CVives, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Gungor S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 ;110(4):681-690.