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Genetics of non-syndromic hearing loss in the Middle East.中东地区非综合征性听力损失的遗传学
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Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.阿联酋听力损失患者 SLC26A4 基因的临床异质性及 DFNB4/Pendred 综合征错义突变的生物信息学研究
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Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.日本患者婴幼儿期听力损失的罕见耳聋基因具有广泛的多样性：一项横断面、多中心下一代测序研究。
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Expansion of the phenotype of lateral meningocele syndrome.外侧脑膜膨出综合征表型的扩展。
Am J Med Genet A. 2020 May;182(5):1259-1262. doi: 10.1002/ajmg.a.61536. Epub 2020 Mar 6.
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Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports.成骨不全症的成年期临床表现：定量研究和病例报告的综合回顾。
Am J Med Genet A. 2020 Apr;182(4):842-865. doi: 10.1002/ajmg.a.61497. Epub 2020 Feb 24.
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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.一名叙利亚患者患有 Steel 综合征，其 COL27A1 基因突变复合杂合，伴有眼部眼眶畸形。
Am J Med Genet A. 2020 Apr;182(4):730-734. doi: 10.1002/ajmg.a.61478. Epub 2020 Jan 8.
4
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.SH3TC2基因在与耳聋和/或脊柱侧弯相关的夏科-马里-图思病中的作用：以四个新的致病变异为例
J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26.
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Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.Charcot-Marie-Tooth 病的下一代测序：机遇与挑战。
Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3.
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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.利伯法布综合征是一种多系统疾病，影响眼睛、耳朵、骨骼和大脑发育，由 PISD 基因中的一个创始性致病性变异引起。
Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2.
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A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.TFAP2B 基因的一种新错义突变与 CHAR 综合征和中枢性尿崩症相关。
Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22.
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.全基因组测序在近亲家庭中揭示了智力障碍的新的致病性变异。
Clin Genet. 2019 Mar;95(3):436-439. doi: 10.1111/cge.13470. Epub 2018 Dec 7.
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Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report.一名中国IVA型黏多糖贮积症患者内分泌激素代谢水平分析：病例报告
Medicine (Baltimore). 2018 Sep;97(38):e12393. doi: 10.1097/MD.0000000000012393.
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The genetic implication of scoliosis in osteogenesis imperfecta: a review.成骨不全症中脊柱侧弯的遗传学意义：综述
J Spine Surg. 2017 Dec;3(4):666-678. doi: 10.21037/jss.2017.10.01.
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