C. Saavedra-Matiz

发表

M. Gelb, J. Orsini, M. Caggana, 2016, Journal of neuroscience research.

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

E. Brooks, J. Orange, M. Watson, 2015, Pediatrics.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

J. Abdenur, J. Orsini, M. Caggana, 2012, Molecular genetics and metabolism.

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening

Norma P. Tavakoli, M. Caggana, D. Kay, 2015, Pediatric pulmonology.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Matthew J. Nichols, P. Galvin-Parton, M. Caggana, 2010, Molecular genetics and metabolism.

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

E. Wijsman, T. Sejersen, K. Borg, 1999, Human molecular genetics.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

W. Chung, C. Chiriboga, C. Stevens, 2020, Genetics in Medicine.

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Matthew J. Nichols, M. Poe, D. Wenger, 2019, Orphanet Journal of Rare Diseases.

Newborn Screening for Spinal Muscular Atrophy in New York State

K. Engelstad, C. Chiriboga, C. Stevens, 2022, Neurology.

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

Matthew J. Nichols, J. Orsini, M. Caggana, 2016, Journal of neuroscience research.

Screening for cystic fibrosis in New York State: considerations for algorithm improvements

Norma P. Tavakoli, M. Caggana, D. Kay, 2016, European Journal of Pediatrics.

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

D. Matern, J. Orsini, J. Pellegrino, 2021, International journal of neonatal screening.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

C. Stevens, M. Caggana, D. Kay, 2021, International journal of neonatal screening.

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

P. Roey, Norma P. Tavakoli, C. Stevens, 2016, Human mutation.

Newborn Screening for SCID in New York State: Experience from the First Two Years

C. Cunningham-Rundles, M. Caggana, D. Kay, 2014, Journal of Clinical Immunology.

Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

E. Wijsman, N. Chapman, D. Rosen, 2000, Human Heredity.

Novel mutations causing medium chain acyl‐CoA dehydrogenase deficiency: Under‐representation of the common c.985 A > G mutation in the New York state population

Matthew J. Nichols, M. Caggana, K. Pass, 2008, American journal of medical genetics. Part A.

Direct genotyping of animal and human isolates of Toxoplasma gondii from Colombia (South America).

J. Gómez‐Marín, C. Saavedra-Matiz, C. Gallego, 2006, Acta tropica.

Title: A Single Nucleotide Polymorphism in the T-Cell Receptor Excision Circle.

C. Saavedra-Matiz, L. Bernstein, M. Gans, 2020, The journal of allergy and clinical immunology. In practice.

Newborn Screening for SCID in New York State: Experience from the First Two Years

C. Cunningham-Rundles, V. Bonagura, M. Caggana, 2014, Journal of Clinical Immunology.

Cost-effective and scalable DNA extraction method from dried blood spots.

Matthew J. Nichols, Matthew J Nichols, M. Caggana, 2013, Clinical chemistry.

Analysis of age-related changes in psychosine metabolism in the human brain

Matthew J. Nichols, E. Bongarzone, J. Kordower, 2018, PloS one.

Session 8 - Candidate Conditions Wednesday, Oct. 29 - 1:30pm-3:00pm

J. Orsini, M. Caggana, C. Saavedra-Matiz, 2014 .

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

M. Watson, L. Notarangelo, J. Walter, 2014, JAMA.

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening

Norma P. Tavakoli, M. Caggana, Jack K. Sharp, 2015, Pediatric pulmonology.