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Exome sequencing in a Chinese cohort of children with cerebral palsy identifies likely pathogenic variants.

Subjects: Asian People*/Asian People*/Asian People*/genetics ; Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/genetics ; Exome*/Exome*/Exome*/genetics

• Source: Nature medicine [Nat Med] 2024 May; Vol. 30 (5), pp. 1251-1252.Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN:

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Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

• Authors : Ng TK; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.; Shantou University Medical College, Shantou, Guangdong, China.

Subjects: Exome*/Exome*/Exome*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

• Source: Eye (London, England) [Eye (Lond)] 2022 Apr; Vol. 36 (4), pp. 749-759. Date of Electronic Publication: 2021 Apr 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort.

• Authors : Mei H; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Yang L

Subjects: Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/genetics ; Exome*/Exome*/Exome*/genetics; Child

• Source: The Journal of pediatrics [J Pediatr] 2022 Mar; Vol. 242, pp. 206-212.e6. Date of Electronic Publication: 2021 Nov 14.Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833

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Prenatal diagnosis for fetuses with isolated and non-isolated congenital heart defects using chromosomal microarray and exome sequencing.

• Authors : Xing Y; Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.; Zhang Y

Subjects: Exome* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnostic imaging ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics

• Source: Prenatal diagnosis [Prenat Diagn] 2022 Jun; Vol. 42 (7), pp. 873-880. Date of Electronic Publication: 2022 May 24.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Targeted exome sequencing identifies mutational landscape in a cohort of 1500 Chinese patients with non-small cell lung carcinoma (NSCLC).

• Authors : Zhou YJ; Department of Thoracic Surgery, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, China.; Zheng W

Subjects: Exome Sequencing*; Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*genetics ; Exome/Exome/Exome/*genetics

• Source: Human genomics [Hum Genomics] 2021 Apr 12; Vol. 15 (1), pp. 21. Date of Electronic Publication: 2021 Apr 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364

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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

• Authors : Fan X; Zhao S ...

Subjects: Exome* ; Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease*

• Source: Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2021 May 20; Vol. 48 (5), pp. 396-402. Date of Electronic Publication: 2021 Mar 22.Publisher: Science press Country of Publication: China NLM ID: 101304616 Publication Model: Print-Electronic Cited Medium:

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Exome-Wide Association Analysis Suggests LRP2BP as a Susceptibility Gene for Endothelial Injury in Systemic Sclerosis in the Han Chinese Population.

• Authors : Pu W; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China; Human Phenome Institute, Fudan University, Shanghai, China.

Subjects: Exome* ; Genetic Predisposition to Disease* ; Genome-Wide Association Study*

• Source: The Journal of investigative dermatology [J Invest Dermatol] 2021 May; Vol. 141 (5), pp. 1254-1263.e6. Date of Electronic Publication: 2020 Oct 15.Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population].

• Authors : Xu X; College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, China. .; He W

Subjects: Exome* ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/diagnosis ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/genetics

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Mar 10; Vol. 39 (3), pp. 269-275.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print

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Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

• Authors : Zhao A; Department of Clinical Laboratory, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, Jiangsu, China. Electronic address: .; Shen J

Subjects: Exome* ; Heart Failure*; China

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2021 Aug; Vol. 519, pp. 163-171. Date of Electronic Publication: 2021 Apr 05.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Exome sequencing of 112 trios identifies recessive genetic variants in brain arteriovenous malformations.

• Authors : Zhang M; Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.; Ding X

Subjects: Arteriovenous Fistula/Arteriovenous Fistula/Arteriovenous Fistula/*genetics ; Exome/Exome/Exome/*genetics ; Genetic Variation/Genetic Variation/Genetic Variation/*genetics

• Source: Journal of neurointerventional surgery [J Neurointerv Surg] 2021 Jun; Vol. 13 (6), pp. 568-573. Date of Electronic Publication: 2020 Aug 26.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101517079 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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