标题
Carrier screening for recessive disorders
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-05-29
DOI
10.1038/s41576-019-0134-2
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
- (2019) Ozge Ceyhan-Birsoy et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood
- (2019) Sanne van der Hout et al. BIOETHICS
- Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
- (2018) Sumit Punj et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
- (2018) Karen S. Raraigh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
- (2018) Muhammad Ansar et al. HUMAN MOLECULAR GENETICS
- Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing
- (2018) Frances L. Lynch et al. Journal of Genetic Counseling
- Runs of homozygosity: windows into population history and trait architecture
- (2018) Francisco C. Ceballos et al. NATURE REVIEWS GENETICS
- The evolving landscape of expanded carrier screening: challenges and opportunities
- (2018) Stephanie A. Kraft et al. GENETICS IN MEDICINE
- De novo mutations in regulatory elements in neurodevelopmental disorders
- (2018) Patrick J. Short et al. NATURE
- Effect of inbreeding on intellectual disability revisited by trio sequencing
- (2018) Kimia Kahrizi et al. CLINICAL GENETICS
- Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
- (2018) Jee-Soo Lee et al. JOURNAL OF MEDICAL GENETICS
- Quantifying the contribution of recessive coding variation to developmental disorders
- (2018) Hilary C. Martin et al. SCIENCE
- Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
- (2017) Alison Dalton Archibald et al. GENETICS IN MEDICINE
- A systematic analysis of online marketing materials used by providers of expanded carrier screening
- (2017) Davit Chokoshvili et al. GENETICS IN MEDICINE
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing
- (2017) Patricia Himes et al. GENETICS IN MEDICINE
- The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
- (2017) Dorota Monies et al. HUMAN GENETICS
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
- (2017) Danish Saleheen et al. NATURE
- Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del
- (2017) Jennifer L. Taylor-Cousar et al. NEW ENGLAND JOURNAL OF MEDICINE
- The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations
- (2017) Gabrielle Natalie Samuel et al. NEW GENETICS AND SOCIETY
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Committee Opinion No. 690 Summary
- (2017) OBSTETRICS AND GYNECOLOGY
- Committee Opinion No. 691
- (2017) OBSTETRICS AND GYNECOLOGY
- Expanded carrier screening for monogenic disorders: where are we now?
- (2017) Davit Chokoshvili et al. PRENATAL DIAGNOSIS
- Responsible implementation of expanded carrier screening
- (2016) Lidewij Henneman et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
- (2016) Mohamed Abouelhoda et al. GENETICS IN MEDICINE
- Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening
- (2016) Imran S. Haque et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
- (2015) Nadia Akawi et al. NATURE GENETICS
- Expanded Carrier Screening in Reproductive Medicine—Points to Consider
- (2015) Janice G. Edwards et al. OBSTETRICS AND GYNECOLOGY
- Global burden of genetic disease and the role of genetic screening
- (2015) I.C. Verma et al. Seminars in Fetal & Neonatal Medicine
- Consanguinity in the Contemporary World
- (2014) Giovanni Romeo et al. HUMAN HEREDITY
- Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
- (2014) Periklis Makrythanasis et al. HUMAN MUTATION
- Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
- (2014) Gabriel A. Lazarin et al. PLoS One
- Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research
- (2013) Liane Ioannou et al. GENETICS IN MEDICINE
- ACMG position statement on prenatal/preconception expanded carrier screening
- (2013) Wayne W. Grody et al. GENETICS IN MEDICINE
- CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
- (2013) Christel Thauvin-Robinet et al. JOURNAL OF MEDICAL GENETICS
- Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function
- (2013) John Massie et al. LANCET
- Ethical and Policy Issues in Genetic Testing and Screening of Children
- (2013) et al. PEDIATRICS
- Clinical Genomic Database
- (2013) B. D. Solomon et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Prevention of Thalassemia
- (2013) A. Cao et al. Cold Spring Harbor Perspectives in Medicine
- Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
- (2012) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
- (2012) Gabriel A. Lazarin et al. GENETICS IN MEDICINE
- Human Genome Sequencing in Health and Disease
- (2011) Claudia Gonzaga-Jauregui et al. Annual Review of Medicine
- Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
- (2011) Hanan Hamamy et al. GENETICS IN MEDICINE
- Hb S-β-Thalassemia: Molecular, Hematological and Clinical Comparisons
- (2011) Graham R. Serjeant et al. HEMOGLOBIN
- A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation
- (2011) Bonnie W. Ramsey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis
- (2011) OBSTETRICS AND GYNECOLOGY
- Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
- (2011) C. J. Bell et al. Science Translational Medicine
- Genetics of Early Onset Cognitive Impairment
- (2010) Hans Hilger Ropers Annual Review of Genomics and Human Genetics
- The inherited diseases of hemoglobin are an emerging global health burden
- (2010) D. J. Weatherall BLOOD
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Genetic Testing in Israel: An Overview
- (2009) Guy Rosner et al. Annual Review of Genomics and Human Genetics
- Association Between Carrier Screening and Incidence of Cystic Fibrosis
- (2009) Carlo Castellani JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Next generation disparities in human genomics: concerns and remedies
- (2009) Anna C. Need et al. TRENDS IN GENETICS
- Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis
- (2008) Jaime E. Hale et al. NEW ENGLAND JOURNAL OF MEDICINE
- DNA polymorphisms at the BCL11A, HBS1L-MYB, and -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
- (2008) G. Lettre et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Consanguinity and its relevance to clinical genetics
- (2003) AH Bittles CLINICAL GENETICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started