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Andrea L. Gropman

Andrea L. Gropman,Children's National Medical Center,Genetics & Genealogy,Neuroscience,Molecular Biology

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Andrea L. Gropman

Children's National Medical Center

Publications: 61 | Citations: 564

Fields: Genetics & Genealogy, Neuroscience, Molecular Biology

Collaborated with 390 co-authors from 1997 to 2011 | Cited by 2368 authors

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Publications (61)

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Research challenges in central nervous system manifestations of inborn errors of metabolism

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Journal: Molecular Genetics and Metabolism - MOL GENET METAB , vol. 102, no. 3, pp. 326-338, 2011

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

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Journal: Pediatric Neurology - PEDIAT NEUROL , vol. 45, no. 1, pp. 57-59, 2011

Clinical utility gene card for: Holoprosencephaly

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 19, no. 1, 2011

New frontiers in neuroimaging applications to inborn errors of metabolism

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Journal: Molecular Genetics and Metabolism - MOL GENET METAB , vol. 104, no. 3, pp. 195-205, 2011

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (Citations: 4)

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Journal: Molecular Syndromology , vol. 1, no. 2, pp. 59-66, 2010

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Citations (564 times by 508 publications)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

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Journal: PLOS One , vol. 7, no. 8, 2012

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

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Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 5, 2012

Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24

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Journal: PLOS One , vol. 7, no. 2, 2012

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

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Journal: PLOS One , vol. 7, no. 1, 2012

Epilepsy in Children—When Should We Think Neurometabolic Disease?

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Journal: Journal of Child Neurology - JCN , vol. 27, no. 5, pp. 663-671, 2012

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Co-authors (390)

Journals (28)

Keywords (116)

Andrea L. Gropman,Children's National Medical Center,Genetics & Genealogy,Neuroscience,Molecular Biology

Publications (61)

BibTeX | RIS | RefWorks Download

Research challenges in central nervous system manifestations of inborn errors of metabolism

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Clinical utility gene card for: Holoprosencephaly

New frontiers in neuroimaging applications to inborn errors of metabolism

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (Citations: 4)

Citations (564 times by 508 publications)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

Epilepsy in Children—When Should We Think Neurometabolic Disease?


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Andrea L. Gropman,Children's National Medical Center,Genetics & Genealogy,Neuroscience,Molecular Biology

Publications (61) BibTeX | RIS | RefWorks Download

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (Citations: 4)

Publications (61)

BibTeX | RIS | RefWorks Download