Genetic counselling articles within Scientific Reports

Featured

• Article
  28 January 2024 | Open Access

  Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

  • Quentin Hennocq
  • , Marjolaine Willems
  •  & Nicolas Garcelon

• Article
  15 February 2022 | Open Access

  A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

  • Giovanna Nicora
  • , Susanna Zucca
  •  & Paolo Magni

• Article
  13 December 2021 | Open Access

  The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases

  • Wei Wang
  • , Junying Song
  •  & Lei Zhang

• Article
  22 September 2021 | Open Access

  A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

  • Yin-Ting Zeng
  • , Wen-Yu Liu
  •  & Yin-Hsiu Chien

• Article
  26 March 2020 | Open Access

  Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

  • Lizhu Yang
  • , Kaoru Fujinami
  •  & Yasuhiro Murakawa

• Article
  28 November 2019 | Open Access

  Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

  • Tiago Fernando Chaves
  • , Nathacha Baretto
  •  & Angelica Francesca Maris

• Article
  21 June 2019 | Open Access

  NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

  • Sami Belhadj
  • , Isabel Quintana
  •  & Laura Valle

• Article
  27 February 2019 | Open Access

  Towards Improving Embryo Prioritization: Parallel Next Generation Sequencing of DNA and RNA from a Single Trophectoderm Biopsy

  • Noga Fuchs Weizman
  • , Brandon A. Wyse
  •  & Clifford L. Librach

• Article
  20 November 2018 | Open Access

  Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

  • Ting Chen
  • , Weize Xu
  •  & Qiang Shu

• Article
  15 November 2018 | Open Access

  Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

  • Małgorzata Beręsewicz
  • , Łukasz Charzewski
  •  & Barbara Zabłocka

• Article
  24 August 2018 | Open Access

  Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population

  • Litao Qin
  • , Guiyu Lou
  •  & Shixiu Liao

• Article
  13 February 2018 | Open Access

  One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

  • Mun Young Chang
  • , Soyeon Ahn
  •  & Byung Yoon Choi

• Article
  01 December 2017 | Open Access

  Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

  • Socratis Avgeris
  • , Florentia Fostira
  •  & Gerassimos E. Voutsinas

• Article
  23 October 2017 | Open Access

  Genetic Variants Associated with Episodic Ataxia in Korea

  • Kwang-Dong Choi
  • , Ji-Soo Kim
  •  & Jae-Hwan Choi

• Article
  03 August 2017 | Open Access

  Effect of carboxylesterase 1 S75N on clopidogrel therapy among acute coronary syndrome patients

  • Fei-Yan Xiao
  • , Jian-Quan Luo
  •  & Wei Zhang

• Article
  15 May 2017 | Open Access

  Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

  • Guillermo Pousada
  • , Vincenzo Lupo
  •  & Diana Valverde

• Article
  08 May 2017 | Open Access

  HIV-1 CRF01_AE strain is associated with faster HIV/AIDS progression in Jiangsu Province, China

  • Minjie Chu
  • , Wuhong Zhang
  •  & Xun Zhuang

• Article
  21 March 2017 | Open Access

  Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies

  • Zhongdong Lin
  • , Zhenwei Liu
  •  & Yong Liu

• Article
  27 January 2017 | Open Access

  A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

  • Xiong Wang
  • , Yaowu Zhu
  •  & Yanjun Lu

• Article
  14 September 2016 | Open Access

  An APOC3 3′UTR variant associated with plasma triglycerides levels and coronary heart disease by creating a functional miR-4271 binding site

  • Sen-Lin Hu
  • , Guang-Lin Cui
  •  & Dao-Wen Wang

• Article
  12 April 2016 | Open Access

  Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

  • Xue Chen
  • , Xunlun Sheng
  •  & Chen Zhao

• Article
  27 January 2016 | Open Access

  Spinocerebellar ataxia type 21 exists in the Chinese Han population

  • Sheng Zeng
  • , Junsheng Zeng
  •  & Junling Wang

• Article
  20 October 2015 | Open Access

  Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

  • Gaia Roversi
  • , Chiara Picinelli
  •  & Palma Finelli

• Article
  27 May 2015 | Open Access

  Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

  • Hezhi Fang
  • , Hao Shi
  •  & Jianxin Lu