Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening—a Single-Center Experience in New York State

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

Robert Guthrie, Ada Susi · PEDIATRICS · 1963 · 2.2K citations

Medicine, Pediatrics, Early Detection +7

Lymphocyte subsets in healthy children from birth through 18 years of age

William T. Shearer, Howard M. Rosenblatt, Rebecca Gelman et al. · Journal of Allergy and Clinical Immunology · 2003 · 826 citations · Full text

Life Sciences, Immunology, Pediatrics +10

Role of BRCA2 in Control of the RAD51 Recombination and DNA Repair Protein

Adelina A. Davies, Jean‐Yves Masson, Michael J. McIlwraith et al. · Molecular Cell · 2001 · 714 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert J. Currier et al. · JAMA · 2014 · 673 citations

Medicine, Immunology, Pediatrics +17

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle et al. · The American Journal of Human Genetics · 2008 · 331 citations · Full text

Life Sciences, Developmental Biology, Genetics +14