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

Antonia Kwan, Roshini S. Abraham, Robert J. Currier, +75

JAMA

Cloning of the immunological repertoire in Escherichia coli for generation of monoclonal catalytic antibodies: construction of a heavy chain variable region-specific cDNA library.

Lakshmi Sastry, Michelle A. Alting-Mees, William D. Huse, +6

Proceedings of the National Academy of Sciences

Immunocytochemical TechniqueEngineeringMolecular BiologyEscherichia ColiImmune System +21

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho, +35

Genetics in Medicine

Schaaf-yang SyndromeAutoimmune DiseaseGenetic DisorderPediatricsPathology +6

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen, +34

European Journal of Human Genetics

Bcor AnalysisClinical DisordersOphthalmologyLenz Microphthalmia SyndromesNeurology +3

Identification of human antibody fragment clones specific for tetanus toxoid in a bacteriophage lambda immunoexpression library.

Rebecca L. Mullinax, E A Gross, Jeff R. Amberg, +7

Proceedings of the National Academy of Sciences

Tetanus ToxoidHuman Leukocyte AntigenPathogenesisImmunologyMolecular Biology Approach +12

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

Javier Chinen, Joie Davis, Suk See De Ravin, +10

Blood

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Robert Wallerstein, Carol E. Anderson, Beverly N. Hay, +8

Journal of Medical Genetics

Rubinstein-taybi SyndromeSubmicroscopic DeletionsGeneticsDiagnosisPathology +17

De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

Akemi Tanaka, Renkui Bai, Megan T. Cho, +11

Molecular Case Studies

Brain DevelopmentGeneticsGenomic MechanismMolecular GeneticsDisease Gene Identification +18

Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region

Elke Botzenhart, G. Bartalini, Edward Blair, +18

Human Mutation

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +20

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts

Jaime E. Hale, Craig D. Platt, Francisco A. Bonilla, +18

The Journal of Allergy and Clinical Immunology In Practice

Primary ImmunodeficiencySevere Combined ImmunodeficiencyNewborn ScreeningClinical EpidemiologyPediatrics +9