D. Freedenberg

发表

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population.

M. Canfield, D. Freedenberg, D. Mandell, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The association between newborn screening analytes and childhood autism in a Texas Medicaid population, 2010–2012

M. Canfield, D. Freedenberg, D. Mandell, 2019, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

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

A Newborn Screening Education Best Practices Framework: Development and Adoption

Siobhan M. Dolan, S. Dolan, A. Evans, 2019, International journal of neonatal screening.

Health Supervision for Children With Marfan Syndrome

Marilyn C. Jones, R. Saul, Chairperson, 2013 .

MspI polymorphic site within the Factor IX gene

K. Kurachi, D. Freedenberg, C. Scott, 1987, Human Genetics.

Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.

D. Freedenberg, S. Sagel, M. Sontag, 2016, The Journal of pediatrics.

Ethical and Policy Issues in Genetic Testing and Screening of Children

R. Sharp, J. Hoffman, A. Lemke, 2016, Pediatric Clinical Practice Guidelines & Policies.

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

C. Richards, S. Patil, A. Taylor, 1999, American journal of medical genetics.

Health Supervision for Children With Neurofibromatosis Type 1

David T. Miller, B. Korf, D. Viskochil, 2019, Pediatrics.

The incidence of urea cycle disorders.

Hye-Seung Lee, J. Haberle, M. Summar, 2013, Molecular genetics and metabolism.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

F. Ashcroft, A. Hattersley, S. Ellard, 2005, Human molecular genetics.

MECP2 duplications in six patients with complex sex chromosome rearrangements

A. Breman, Ankita Patel, S. Cheung, 2011, European Journal of Human Genetics.

Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.

J. Belmont, L. E. Mitchell, M. Canfield, 2012, Birth defects research. Part A, Clinical and molecular teratology.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2009, Molecular genetics and metabolism.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

P. Stankiewicz, E. Roeder, V. Enciso, 2010, Journal of Medical Genetics.

Methylmalonic Acidemia: Can Treatment be Improved?

K. Michals‐Matalon, D. Freedenberg, R. Lombardo, 2015 .

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

D. Oglesbee, D. Freedenberg, B. Anderson, 2006, Pediatric neurology.

The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.

J. Belmont, M. Canfield, D. Freedenberg, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting

Marc S. Williams, D. Collingridge, D. Freedenberg, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

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

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

Guidance for the Clinician in Rendering Pediatric Care Health Supervision for Children With Neuro fi bromatosis Type 1

E. Schorry, N. Ullrich, D. Freedenberg, 2019 .