David Cheillan

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 234 citations · Full text

Medicine, Biomedical Sciences, Early Detection +16

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken et al. · The American Journal of Human Genetics · 2012 · 206 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Carla Minutti, Jean M. Lacey, Mark J Magera et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 153 citations

Medicine, Endocrinology, Pediatrics +17