Mark L. Batshaw

Children's National — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

42h-index8.0kcitations114works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(69), Amino Acid Enzymes and Metabolism(28), Virus-based gene therapy research(26), Biochemical and Molecular Research(19), Neonatal Health and Biochemistry(18)

Publications114 total

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
JIMD Reports·2023· 1 citedOpen Access
In memoriam Claude Bachmann 1941-2022
Schweizerische Ärztezeitung·2022Open Access
In memoriam Claude Bachmann 1941-2022
Bulletin des Médecins Suisses·2022Open Access
Obituary for Claude Bachmann, <scp>MD</scp> (1941–2022)
Journal of Inherited Metabolic Disease·2022
The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study
Translational Science of Rare Diseases·2021· 3 citedOpen Access
A mutation-independent CRISPR-Cas9–mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency
Science Advances·2020· 65 citedOpen Access
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease·2019· 42 citedOpen Access
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease·2018· 5 cited
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice
Molecular Genetics and Metabolism·2017· 51 citedOpen Access
Improving long term outcomes in urea cycle disorders‐report from the Urea Cycle Disorders Consortium
Journal of Inherited Metabolic Disease·2016· 75 citedOpen Access
481. CRISPR/Cas9-Mediated In Vivo Genome Editing to Correct the OTC spfash Mutation in Newborn Mice
Molecular Therapy·2016
A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice
Nature Biotechnology·2016· 552 citedOpen Access
174. Liver Fibrosis in Aged OTC-KO Heterozygotes and Successful Correction by AAV8-Mediated Gene Therapy
Molecular Therapy·2015Open Access
A longitudinal study of urea cycle disorders
Molecular Genetics and Metabolism·2014· 193 citedOpen Access
Research Into Rare Diseases of Childhood
JAMA·2014· 33 citedOpen Access
International Telemedicine Consultations for Neurodevelopmental Disabilities
Telemedicine Journal and e-Health·2014· 28 cited
Vector Sequences Are Not Detected in Tumor Tissue from Research Subjects with Ornithine Transcarbamylase Deficiency Who Previously Received Adenovirus Gene Transfer
Human Gene Therapy·2013· 4 citedOpen Access
Vector Sequences Are Not Detected In Tumor Tissue From Research Subjects With Ornithine Transcarbamylase Deficiency Who Previously Received Adenovirus Gene Transfer
Human Gene Therapy·2013
Children with Disabilities, 7th ed.
2013· 8 cited
Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ
The Journal of Pediatrics·2012· 79 citedOpen Access
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Frequent Co-authors

James M. Wilson(20), Michael B. Robinson(10), Peter Bell(9), Hiroki Morizono(9), Lili Wang(8), Marc Yudkoff(8), Robert McCarter(7), Steven E. Raper(6), Hongwei Yu(5), Mendel Tuchman(5), Guangping Gao(4), Saul W. Brusilow(4), Marshall Summar(4), Nelson A. Wivel(3), Deirdre McMenamin(3), Zhenning He(3), John White(3), E. David Mellits(3), Jeffrey P. Krischer(3), Emma E. Furth(3)