Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
A Kwan, RS Abraham, R Currier, A Brower… - Jama, 2014 - jamanetwork.com
Importance Newborn screening for severe combined immunodeficiency (SCID) using
assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and …
assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and …
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017
GS Amatuni, RJ Currier, JA Church, T Bishop… - …, 2019 - publications.aap.org
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had …
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had …
Genetics, medicine, and the Plain people
KA Strauss, EG Puffenberger - Annual review of genomics and …, 2009 - annualreviews.org
The Old Order Amish and Old Order Mennonite populations of Pennsylvania are descended
from Swiss Anabaptist immigrants who came to the New World in the early eighteenth …
from Swiss Anabaptist immigrants who came to the New World in the early eighteenth …
Genetic mapping and exome sequencing identify variants associated with five novel diseases
EG Puffenberger, RN Jinks, C Sougnez, K Cibulskis… - PloS one, 2012 - journals.plos.org
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children …
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children …
[HTML][HTML] Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell …
J Heimall, RH Buckley, J Puck, TA Fleisher… - Biology of Blood and …, 2017 - Elsevier
Severe combined immunodeficiency (SCID) is effectively treated with hematopoietic cell
transplantation (HCT), with overall survival approaching 90% in contemporary reports …
transplantation (HCT), with overall survival approaching 90% in contemporary reports …
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease
KA Strauss, RN Jinks, EG Puffenberger… - The American Journal of …, 2015 - cell.com
CODAS syndrome is a multi-system developmental disorder characterized by cerebral,
ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger …
ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger …
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
EG Puffenberger, RN Jinks, H Wang, B Xin… - Human …, 2012 - Wiley Online Library
We studied a unique phenotype of cognitive delay, autistic behavior, and gait instability
segregating in three separate sibships. We initiated genome‐wide mapping in two sibships …
segregating in three separate sibships. We initiated genome‐wide mapping in two sibships …
One community's effort to control genetic disease
KA Strauss, EG Puffenberger… - American journal of …, 2012 - ajph.aphapublications.org
In 1989, we established a small community health clinic to provide care for uninsured Amish
and Mennonite children with genetic disorders. Over 20 years, we have used publicly …
and Mennonite children with genetic disorders. Over 20 years, we have used publicly …
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
SO Sharapova, M Skomska-Pawliszak… - Frontiers in …, 2020 - frontiersin.org
Background: Variants in recombination-activating genes (RAG) are common genetic causes
of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe …
of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe …
Vaccine-preventable diseases requiring hospitalization
G Williamson, B Ahmed, PS Kumar, BE Ostrov… - …, 2017 - publications.aap.org
BACKGROUND: Plain children often have lower immunization rates than non-Plain children.
Penn State Health Children's Hospital is a tertiary medical center with large nearby Plain …
Penn State Health Children's Hospital is a tertiary medical center with large nearby Plain …