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New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach. Prog Neuropsychopharmacol Biol Psychiatry. 2019 08 30; 94:109659.
Alkelai A, Greenbaum L, Heinzen EL, Baugh EH, Teitelbaum A, Zhu X, Strous RD, Tatarskyy P, Zai CC, Tiwari AK, Tampakeras M, Freeman N, Müller DJ, Voineskos AN, Lieberman JA, Delaney SL, Meltzer HY, Remington G, Kennedy JL, Pulver AE, Peabody EP, Levy DL, Lerer B. PMID: 31153890.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019 02 23; 393(10173):758-767.
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. PMID: 30712878.
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149 Fields:
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Humans
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De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years. Eur J Med Genet. 2020 Jan; 63(1):103625.
McCormack M, McGinty RN, Zhu X, Slattery L, Heinzen EL, EPIGEN Consortium, Costello DJ, Delanty N, Cavalleri GL. PMID: 30711678.
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PubMed Mentions:
2 Fields:
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Humans
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Mutation Clearance after Transplantation for Myelodysplastic Syndrome. N Engl J Med. 2018 12 13; 379(24):2379-2380.
Zhu X. PMID: 30592586.
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Humans
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281.
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M, Epi4K Consortium, Epilepsy Phenome/Genome Project. PMID: 29738522; PMCID: PMC5965900.
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22 Fields:
Translation:
Humans
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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS Genet. 2017 Nov; 13(11):e1007104.
Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB. PMID: 29186148; PMCID: PMC5724893.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 12; 122(4):189-197.
Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. PMID: 29122469; PMCID: PMC5907499.
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12 Fields:
Translation:
Humans
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 05 05; 98(5):1001-1010.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. PMID: 27108799; PMCID: PMC4863562.
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PubMed Mentions:
39 Fields:
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HumansCells
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Joint detection of copy number variations in parent-offspring trios. Bioinformatics. 2016 04 15; 32(8):1130-7.
Liu Y, Liu J, Lu J, Peng J, Juan L, Zhu X, Li B, Wang Y. PMID: 26644415; PMCID: PMC4907378.
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PubMed Mentions:
5 Fields:
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Humans
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med. 2015 Oct; 17(10):774-81.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. PMID: 25590979; PMCID: PMC4791490.
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PubMed Mentions:
168 Fields:
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Humans
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One gene, many neuropsychiatric disorders: lessons from Mendelian diseases. Nat Neurosci. 2014 Jun; 17(6):773-81.
Zhu X, Need AC, Petrovski S, Goldstein DB. PMID: 24866043.
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PubMed Mentions:
66 Fields:
Translation:
HumansAnimals
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An evaluation of copy number variation detection tools from whole-exome sequencing data. Hum Mutat. 2014 Jul; 35(7):899-907.
Tan R, Wang Y, Kleinstein SE, Liu Y, Zhu X, Guo H, Jiang Q, Allen AS, Zhu M. PMID: 24599517.
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PubMed Mentions:
104 Fields:
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Humans
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A gradient-boosting approach for filtering de novo mutations in parent-offspring trios. Bioinformatics. 2014 Jul 01; 30(13):1830-6.
Liu Y, Li B, Tan R, Zhu X, Wang Y. PMID: 24618463; PMCID: PMC4071207.
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PubMed Mentions:
13 Fields:
Translation:
Humans