Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Stanley, Sciortino"'
Autor:
Stanley Sciortino, Steve Graham, Toki Fillman, Hari Kandasamy, Robin Cooley, Carl Hanson, Valorie Eckert, Hao Tang, Juan Yang, David Seftel, Cheng-ting Tsai, Peter Robinson
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 43 (2023)
To investigate COVID-19 surveillance among pregnant women, the California Genetic Disease Screening Program conducted a screening performance and seroprevalence evaluation of maternal SARS-CoV-2 antibodies detected in banked newborn dried blood spots
Externí odkaz:
https://doaj.org/article/df2e33f3f1c04d198cff7be780ca9671
Autor:
Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting
Publikováno v:
JCI Insight, Vol 7, Iss 6 (2022)
The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (le
Externí odkaz:
https://doaj.org/article/78b4738b6909425d927439919d715df3
Autor:
Jamie, Matteson, Cindy H, Wu, Deepika, Mathur, Hao, Tang, Stanley, Sciortino, Lisa, Feuchtbaum, Tracey, Bishop, Sudhir C, Sharma, Partha, Neogi, Ina, Fitzgibbon, Richard S, Olney
Publikováno v:
Journal of Neuromuscular Diseases. 9:777-785
Background: Universal spinal muscular atrophy (SMA) newborn screening was implemented in California on June 24, 2020. Objective: We describe California’s experience with the first 18 months of SMA newborn screening, including our assay methodology,
Autor:
Ruwan Thilakaratne, Steve Graham, John Moua, Caitlin G. Jones, Caroline Collins, Jennifer Mann, Stanley Sciortino, Jacklyn Wong, Martin Kharrazi
Publikováno v:
Pediatric Pulmonology. 57:2798-2807
Carriers of the cystic fibrosis transmembrane conductance regulator (CFTR) gene ("carriers") have been found to have an increased risk of persistent asthma. However, it is unclear at what level of CFTR function this risk exists and whether it is modi
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Autor:
Jamie Matteson, Stanley Sciortino, Lisa Feuchtbaum, Tracey Bishop, Richard S. Olney, Hao Tang
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 22 (2021)
X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the
Externí odkaz:
https://doaj.org/article/e0b3a687c949458a8fd2d9485feed8f4
Autor:
Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 62 (2020)
Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To det
Externí odkaz:
https://doaj.org/article/aaa90dbba1e8455f98433542b2eac03b
Autor:
Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 9 (2020)
The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: 1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, 2) GAA gene sequencing analysis. Thi
Externí odkaz:
https://doaj.org/article/0984fecabacb4e1caf031010e37579f3
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Autor:
Stanley Sciortino, Richard S. Olney, Lisa Feuchtbaum, Tracey Bishop, Hao Tang, Jamie Matteson
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 22, p 22 (2021)
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 22, p 22 (2021)
Volume 7
Issue 2
X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the
Autor:
Silvia Tortorelli, Piero Rinaldo, Jamie Matteson, Robert J. Currier, Hao Tang, Stanley Sciortino
Publikováno v:
International Journal of Neonatal Screening
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 62, p 62 (2020)
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 62, p 62 (2020)
Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To det
Autor:
Joseph A. Church, Stanley J. Naides, Robert J. Currier, Stanley Sciortino, Jennifer M. Puck, George S. Amatuni
Publikováno v:
The Journal of allergy and clinical immunology, vol 144, iss 6
Background In 6.5 years of newborn screening for severe combined immunodeficiency in California, 3,252,156 infants had DNA from dried blood spots (DBSs) assayed for T-cell receptor excision circles. Infants with T-cell receptor excision circle values