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。A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novo PKD1 mutation
Hao Shi et al.
CLINICAL GENETICS (2021)
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome
Kiyoshi Yamaguchi et al.
JOURNAL OF HUMAN GENETICS (2021)
Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth
Cuiting Peng et al.
REPRODUCTIVE SCIENCES (2021)
Targeted nanopore sequencing with Cas9-guided adapter ligation
Timothy Gilpatrick et al.
NATURE BIOTECHNOLOGY (2020)
Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer
Pere Mir Pardo et al.
GENES (2020)
Preimplantation Genetic Testing for Monogenic Disorders
Martine De Rycke et al.
GENES (2020)
Long-read human genome sequencing and its applications
Glennis A. Logsdon et al.
NATURE REVIEWS GENETICS (2020)
ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
Filipa Carvalho et al.
HUMAN REPRODUCTION OPEN (2020)
Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease
V. Berckmoes et al.
HUMAN REPRODUCTION (2019)
Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and beta-thalassemia genotyping
Fei He et al.
JOURNAL OF HUMAN GENETICS (2018)
Nanopore sequencing and assembly of a human genome with ultra-long reads
Miten Jain et al.
NATURE BIOTECHNOLOGY (2018)
Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos
Eftychia Dimitriadou et al.
HUMAN REPRODUCTION (2017)
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease
Emilie Cornec-Le Gall et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016
Fouad T. Chebib et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2016)
Validation of a next-generat on sequencing based protocol for 24-chromosome aneuploidy screening of blastocysts
Jin Huang et al.
FERTILITY AND STERILITY (2016)
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease
Christina M. Heyer et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
INC-Seq: accurate single molecule reads using nanopore sequencing
Chenhao Li et al.
GIGASCIENCE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease
M. Kurashige et al.
CLINICAL GENETICS (2015)
Resolving the complexity of the human genome using single-molecule sequencing
Mark J. P. Chaisson et al.
NATURE (2015)
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
Marie-Pierre Audrezet et al.
HUMAN MUTATION (2012)
Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients
William B. Schoolcraft et al.
FERTILITY AND STERILITY (2011)
Autosomal dominant polycystic kidney disease: the last 3 years
Vicente E. Torres et al.
KIDNEY INTERNATIONAL (2009)
Comprehensive human genome amplification using multiple displacement amplification
FB Dean et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes
N Bogdanova et al.
GENOMICS (2001)