Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - nature.com
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - paper.sciencenet.cn
美国威康桑格研究所Kyle Retterer 研究组在研究中取得进展. 他们列出了结合医疗保健和研究
数据发现的28 种遗传疾病的证据. 这一研究成果于2020 年10 月14 日发表在国际顶尖学术期刊 …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - eprints.ncl.ac.uk
Evidence for 28 genetic disorders discovered by combining healthcare and research data -
ePrints - Newcastle University Newcastle University Toggle Main Menu Toggle Search Home …

[PDF][PDF] This is a repository copy of Evidence for 28 genetic disorders discovered by combining healthcare and research data.

J Kaplanis, KE Samocha, L Wiel - core.ac.uk
De novo mutations (DNMs) in protein-coding genes are a well-established cause of 42
developmental disorders (DD). However, known DD-associated genes only account for a 43 …

[PDF][PDF] Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, LJM van de Wiel, Z Zhang… - 2020 - repository.ubn.ru.nl
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders (1). However, genes known to be associated with developmental disorders …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, J Lord, D Baralle… - Nature, 2020 - eprints.soton.ac.uk
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1. However, genes known to be associated with developmental disorders account …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - discovery.ucl.ac.uk
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders1. However, genes known to be associated with developmental disorders account …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - eprints.gla.ac.uk
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders1. However, genes known to be associated with developmental disorders account …

[PDF][PDF] This is a repository copy of Evidence for 28 genetic disorders discovered by combining healthcare and research data.

J Kaplanis, KE Samocha, L Wiel - academia.edu
De novo mutations (DNMs) in protein-coding genes are a well-established cause of 42
developmental disorders (DD). However, known DD-associated genes only account for a 43 …

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - europepmc.org
De novo mutations (DNMs) in protein-coding genes are a well-established cause of
developmental disorders (DD) 1. However, known DD-associated genes only account for a …