A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

(2019) Igor Ribeiro Ferreira et al.   Molecular Genetics & Genomic Medicine

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

(2019) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

(2019) Ludwig Czibere et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dried Blood Spots for Global Health Diagnostics and Surveillance: Opportunities and Challenges

(2018) Mark D. Lim   AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

(2018) Ke Lei et al.   Orphanet Journal of Rare Diseases

Evaluation of dried blood spot samples for screening of hepatitis C and human immunodeficiency virus in a real-world setting

(2018) Sonia Vázquez-Morón et al.   Scientific Reports

High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand

(2017) Pimlak Charoenkwan et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a

(2017) Masaaki Sato   Frontiers in Cellular Neuroscience

Newborn screening for SCID: lessons learned

(2016) Becky J. Buelow et al.   Expert Review of Hematology

Targeted bisulfite sequencing of the dynamic DNA methylome

(2016) Michael J. Ziller et al.   Epigenetics & Chromatin

Chelex 100 as a Medium for Simple Extraction of DNA for PCR-Based Typing from Forensic Material

(2016) P. Sean Walsh et al.   BIOTECHNIQUES

Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis

(2015) R. S. George et al.   CLINICAL CHEMISTRY

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

(2015) M. A. Angulo et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Mutation Update for UBE3A Variants in Angelman Syndrome

(2014) Bekim Sadikovic et al.   HUMAN MUTATION

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

(2013) C. Ronald Scott et al.   JOURNAL OF PEDIATRICS

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing

(2013) Mads Vilhelm Hollegaard et al.   MOLECULAR GENETICS AND METABOLISM

DNA Sequencing

(2012) Frederick E. Dewey et al.   CIRCULATION

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

PCR inhibitors - occurrence, properties and removal

(2012) C. Schrader et al.   JOURNAL OF APPLIED MICROBIOLOGY

Bisulfite genomic sequencing of DNA from dried blood spot microvolume samples

(2011) Hongmei Xu et al.   Forensic Science International-Genetics

Development and validation of a fully automated online human dried blood spot analysis of bosentan and its metabolites using the Sample Card And Prep DBS System

(2011) Norbert Ganz et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Dried Blood Spot Real-time Polymerase Chain Reaction Assays to Screen Newborns for Congenital Cytomegalovirus Infection

(2010) Suresh B. Boppana   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples

(2010) Karina M. Sørensen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

(2009) Jennifer L. Goldstein et al.   MUSCLE & NERVE

The Floppy Infant: Evaluation of Hypotonia

(2009) D. E. Peredo et al.   PEDIATRICS IN REVIEW

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS