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ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studie
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Genetic prediction of male pattern baldness based on large independent dataset
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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlation
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Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1
Author: Hubberten M1, Bochenek G2, Chen H1,3, Häsler R4, Wiehe R1, Rosenstiel P4, Jepsen S2, Dommisch H1, Schaefer AS5
Journal: Eur J Hum Genet. 2019 Jan;27(1):80-89. doi: 10.1038/s41431-018-0210-7. Epub 2018 Aug 14
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MultiWaver 2.0: modeling discrete and continuous gene flow to reconstruct complex population admixtures
Author: Ni X1, Yuan K2,3, Liu C2,3, Feng Q2,3, Tian L2,3, Ma Z4,5,6, Xu S7,8,9,10,11
Journal: Eur J Hum Genet. 2019 Jan;27(1):133-139. doi: 10.1038/s41431-018-0259-3. Epub 2018 Sep 11
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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
Author: Zhao S1,2, Xiang J3, Fan C1,2, Asan1,2, Shang X4, Zhang X5, Chen Y6, Zhu B7, Cai W8, Chen S9, Cai R10, Guo X11, Zhang C12, Zhou Y13, Huang S14, Liu Y15, Chen B16, Yan S17, Chen Y18, Ding H19, Guo F1,2, Wang Y1,2, Zhong W1,2, Zhu Y1,2, Wang Y1,2, Chen C1,2, Li Y20, Huang H3, Mao M3, Yin Y3, Wang J21,22, Yang H21,22, Xu X4, Sun J23,24, Peng Z25,26
Journal: Eur J Hum Genet. 2019 Feb;27(2):254-262. doi: 10.1038/s41431-018-0253-9. Epub 2018 Oct 1
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The Global State of the Genetic Counseling Profession
Author: Abacan M1, Alsubaie L2, Barlow-Stewart K3, Caanen B4, Cordier C5, Courtney E6, Davoine E7, Edwards J8, Elackatt NJ9, Gardiner K10, Guan Y11, Huang LH12,13, Malmgren CI14,15,16,17, Kejriwal S18, Kim HJ19, Lambert D20, Lantigua-Cruz PA21, Lee JMH22, Lodahl M23, Lunde Å24, Macaulay S25, Macciocca I26, Margarit S27, Middleton A28,29, Moldovan R30, Ngeow J6, Obregon-Tito AJ31, Ormond KE32,33, Paneque M34, Powell K35, Sanghavi K36, Scotcher D37, Scott J38, Juhé CS39, Shkedi-Rafid S40, Wessels TM41, Yoon SY42,43,22, Wicklund C44
Journal: Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5
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The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility
Author: Chen B1, Wang W1, Peng X2, Jiang H2,3, Zhang S4, Li D5, Li B4, Fu J2, Kuang Y4, Sun X2, Wang X1, Zhang Z1, Wu L4, Zhou Z1, Lyu Q4, Yan Z4, Mao X4, Xu Y1, Mu J1, Li Q1, Jin L1, He L6, Sang Q7, Wang L8,9
Journal: Eur J Hum Genet. 2019 Feb;27(2):300-307. doi: 10.1038/s41431-018-0283-3. Epub 2018 Oct 8
