D
Debra Freedenberg
Researcher at Texas Department of State Health Services
Publications - 17
Citations - 1979
Debra Freedenberg is an academic researcher from Texas Department of State Health Services. The author has contributed to research in topics: Newborn screening & Population. The author has an hindex of 12, co-authored 17 publications receiving 1686 citations. Previous affiliations of Debra Freedenberg include Vanderbilt University & Vanderbilt University Medical Center.
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Journal ArticleDOI
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan,Roshini S. Abraham,Robert Currier,Amy Brower,Karen Andruszewski,Jordan K. Abbott,Mei W. Baker,Mark Ballow,Louis Bartoshesky,Francisco A. Bonilla,Charles D. Brokopp,Edward G. Brooks,Michele Caggana,Jocelyn Celestin,Joseph A. Church,Anne Marie Comeau,James A. Connelly,Morton J. Cowan,Charlotte Cunningham-Rundles,Trivikram Dasu,Nina Dave,Maria Teresa de la Morena,Ulrich A. Duffner,Chin-To Fong,Lisa R. Forbes,Lisa R. Forbes,Debra Freedenberg,Erwin W. Gelfand,Jaime E. Hale,I. Celine Hanson,I. Celine Hanson,Beverly N. Hay,Diana Hu,Anthony J. Infante,Daisy Johnson,Neena Kapoor,Denise M. Kay,Donald B. Kohn,Rachel Lee,Heather K. Lehman,Zhili Lin,Fred Lorey,Aly Abdel-Mageed,Adrienne Manning,Sean A. McGhee,Sean A. McGhee,Theodore B. Moore,Stanley J. Naides,Luigi D. Notarangelo,Jordan S. Orange,Jordan S. Orange,Sung-Yun Pai,Matthew H. Porteus,Matthew H. Porteus,Ray Rodriguez,Neil Romberg,John M. Routes,Mary Ruehle,Arye Rubenstein,Carlos A. Saavedra-Matiz,Ginger Scott,Patricia M. Scott,Elizabeth Secord,Christine M. Seroogy,William T. Shearer,William T. Shearer,Subhadra Siegel,Stacy K. Silvers,E. Richard Stiehm,Robert W. Sugerman,John L. Sullivan,Susan Tanksley,Millard L. Tierce,James W. Verbsky,Beth Vogel,Rosalyn Walker,Kelly Walkovich,Jolan E. Walter,Richard L. Wasserman,Michael S. Watson,Geoffrey A. Weinberg,Leonard B. Weiner,Heather Wood,Anne B. Yates,Jennifer M. Puck +84 more
TL;DR: Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival, and the usefulness of detection of non-SCID T-cell lymphopenia by the same screening remains to be determined.
Journal ArticleDOI
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Pengfei Liu,Ayelet Erez,Sandesh C.S. Nagamani,Shweta U. Dhar,Katarzyna E. Kolodziejska,Avinash V. Dharmadhikari,M. Lance Cooper,Joanna Wiszniewska,Feng Zhang,Feng Zhang,Marjorie Withers,Carlos A. Bacino,Luis Daniel Campos-Acevedo,Mauricio R. Delgado,Debra Freedenberg,Debra Freedenberg,Adolfo D. Garnica,Theresa A. Grebe,Dolores Hernández-Almaguer,LaDonna Immken,Seema R. Lalani,Scott D. McLean,Hope Northrup,Fernando Scaglia,Lane Strathearn,Pamela Trapane,Sung Hae L. Kang,Ankita Patel,Sau Wai Cheung,P. J. Hastings,Pawel Stankiewicz,James R. Lupski,Weimin Bi +32 more
TL;DR: It is shown that constitutionally acquired CGRs share similarities with cancer chromothripsis, which suggests similar mechanistic underpinnings in basic DNA metabolism operative throughout an organism's life cycle.
Journal ArticleDOI
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
Daniela del Gaudio,Ping Fang,Fernando Scaglia,Patricia A. Ward,William J. Craigen,Daniel G. Glaze,Jeffrey L. Neul,Ankita Patel,Jennifer A. Lee,Mira Irons,Susan A. Berry,Amber Pursley,Theresa A. Grebe,Debra Freedenberg,Rick A. Martin,Gary E. Hsich,Jena R Khera,Neil R. Friedman,Huda Y. Zoghbi,Huda Y. Zoghbi,Christine M. Eng,James R. Lupski,Arthur L. Beaudet,Sau Wai Cheung,Benjamin B. Roa +24 more
TL;DR: The collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males and underscores the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.
Journal ArticleDOI
The incidence of urea cycle disorders
Marshall L. Summar,Stefan Koelker,Debra Freedenberg,Cynthia Le Mons,Johannes Häberle,Hye-Seung Lee,Brian Kirmse +6 more
TL;DR: Newborn screening data on over 6million births and data from the large US and European longitudinal registries are used to determine how common urea cycle disorders are.
Journal ArticleDOI
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S. Berg,Nicola Brunetti-Pierri,Sarika U. Peters,Sung Hae L. Kang,Chin-To Fong,Jessica M. Salamone,Debra Freedenberg,Vickie L. Hannig,Lisa Albers Prock,David T. Miller,Peter Raffalli,David J. Harris,Robert P. Erickson,Christopher Cunniff,Gary D. Clark,Maria Blazo,Daniel A. Peiffer,Kevin L. Gunderson,Trilochan Sahoo,Ankita Patel,James R. Lupski,Arthur L. Beaudet,Sau Wai Cheung +22 more
TL;DR: D dup(7)(q11.23) syndrome may be as frequent as Williams-Beuren syndrome and a previously unrecognized cause of language delay and behavioral abnormalities, and Array-based comparative genomic hybridization is a powerful means of detecting genomic imbalances and identifying molecular etiologies in the clinic setting.