Nicholas Lench

机构：Congenica Ltd. (United Kingdom) · ORCID：0000-0002-6108-0759

发表论文 171 篇 · 总被引 9980 次 · h-index 45

代表论文

• Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study (2013 · The Lancet · 被引 590)
• Whole-genome sequencing of patients with rare diseases in a national health system (2020 · Nature · 被引 588)
• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities (2015 · Prenatal Diagnosis · 被引 230)
• Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach (2015 · Prenatal Diagnosis · 被引 221)
• Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment (2012 · Annals of Human Genetics · 被引 202)
• The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made (2013 · Prenatal Diagnosis · 被引 156)