High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

(2023) Rafael Tesorero et al.   PLoS One

Advances in the diagnosis and treatment of sickle cell disease

(2022) A. M. Brandow et al.   Journal of Hematology & Oncology

Estimating the risk of child mortality attributable to sickle cell anaemia in sub-Saharan Africa: a retrospective, multicentre, case-control study

(2022) Brigitte Ranque et al.   Lancet Haematology

Multispectral imaging for MicroChip electrophoresis enables point-of-care newborn hemoglobin variant screening

(2022) Ran An et al.   Heliyon

Techniques for the Detection of Sickle Cell Disease: A Review

(2021) Wjdan A. Arishi et al.   Micromachines

Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

(2020) Oladele Simeon Olatunya et al.   TheScientificWorldJOURNAL

Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies

(2020) Yolanda González-Irazabal et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

(2020) Theo Vos et al.   LANCET

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

Sickle cell disease

(2018) Gregory J. Kato et al.   Nature Reviews Disease Primers

Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns

(2018) Stephan Lobitz et al.   ANNALS OF HEMATOLOGY

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

(2018) Stephan Lobitz et al.   BRITISH JOURNAL OF HAEMATOLOGY

Sickle cell disease

(2017) Russell E Ware et al.   LANCET

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

(2015) Joachim B. Kunz et al.   ANNALS OF HEMATOLOGY

The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)

(2015) Regine Grosse et al.   PEDIATRIC BLOOD & CANCER

Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany

(2014) Stephan Lobitz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Newborn Screening for Sickle Cell Disease: Technical and Legal Aspects of a German Pilot Study with 38,220 Participants

(2014) Claudia Frömmel et al.   Biomed Research International

3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry

(2011) François Boemer et al.   CLINICA CHIMICA ACTA

Significant haemoglobinopathies: guidelines for screening and diagnosis

(2010) Kate Ryan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Impact of Second-Tier Testing on the Effectiveness of Newborn Screening

(2010) D. H. Chace et al.   CLINICAL CHEMISTRY