Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia

Method of the year: long-read sequencing

(2023) Vivien Marx   NATURE METHODS

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia

(2022) Shaily Saraf et al.   INDIAN JOURNAL OF PEDIATRICS

The Human Pangenome Project: a global resource to map genomic diversity

(2022) Ting Wang et al.   NATURE

Complete genomic and epigenetic maps of human centromeres

(2022) Nicolas Altemose et al.   SCIENCE

Epigenetic patterns in a complete human genome

(2022) Ariel Gershman et al.   SCIENCE

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

(2022) Savannah J. Hoyt et al.   SCIENCE

A complete reference genome improves analysis of human genetic variation

(2022) Sergey Aganezov et al.   SCIENCE

The complete sequence of a human genome

(2022) Sergey Nurk et al.   SCIENCE

Segmental duplications and their variation in a complete human genome

(2022) Mitchell R. Vollger et al.   SCIENCE

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

(2022) María Arriba et al.   Frontiers in Endocrinology

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2022) David T. Miller et al.   GENETICS IN MEDICINE

Semi-automated assembly of high-quality diploid human reference genomes

(2022) Erich D. Jarvis et al.   NATURE

Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia

(2021) M. Karaoğlan et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

(2020) Berta Carvalho et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family

(2020) Guo-qin Wang et al.   Scientific Reports

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

(2020) Sabina Baumgartner-Parzer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

(2020) Deborah P. Merke et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

(2019) Duarte Pignatelli et al.   Frontiers in Endocrinology

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

(2018) Paola Concolino et al.   Molecular Diagnosis & Therapy

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

(2018) Phyllis W Speiser et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Application of chromosomal microarray analysis in products of miscarriage

(2018) Xiangyu Zhu et al.   Molecular Cytogenetics

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

(2017) Fady Hannah-Shmouni et al.   GENETICS IN MEDICINE

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

(2017) Leandro Simonetti et al.   HUMAN MUTATION

Congenital adrenal hyperplasia

(2017) Diala El-Maouche et al.   LANCET

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

(2017) Mayara Jorgens Prado et al.   Molecular Diagnosis & Therapy

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6

(2015) Wanqiong Qiao et al.   HUMAN MUTATION

Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency

(2014) Dingyuan Ma et al.   CLINICAL BIOCHEMISTRY

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

(2014) Dingyuan Ma et al.   GENE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High carrier frequency of 21-hydroxylase deficiency in Cyprus

(2013) AAP Phedonos et al.   CLINICAL GENETICS

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

(2011) W. Chen et al.   CLINICAL CHEMISTRY

Molecular Characterization of 25 Chinese Pedigrees with 21-Hydroxylase Deficiency

(2011) Yongguo Yu et al.   Genetic Testing and Molecular Biomarkers

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

(2011) Min-Jung Song et al.   JOURNAL OF HUMAN GENETICS

Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

(2009) S. Kleinle et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency

(2007) Hsien-Hsiung Lee et al.   MOLECULAR GENETICS AND METABOLISM