Brendan Lanpher, MD

  • 1003 Citations
  • 15 Scopus h-Index
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Fingerprint Dive into the research topics where Brendan Lanpher is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Megalencephaly Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Exome Medicine & Life Sciences
Phenylbutyrates Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences

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Research Output 1994 2019

  • 1003 Citations
  • 15 Scopus h-Index
  • 30 Article
  • 4 Review article
  • 1 Chapter
  • 1 Comment/debate

Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature

Tahata, S., Gunderson, L., Lanpher, B. & Morava-Kozicz, E., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalReview article

Congenital Disorders of Glycosylation

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

Intellectual Disability
Medical Genetics
Brain Diseases

Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: Case report and literature review

Cho, J., Chen, J. C. Y., Paludo, J., Conboy, E. E., Lanpher, B., Alberts, S. R. & Halfdanarson, T. R., Jan 1 2019, In : Journal of Gastrointestinal Oncology. 10, 3, p. 582-588 7 p.

Research output: Contribution to journalReview article

Brain Diseases
Drug Therapy
4 Citations (Scopus)

Kabuki syndrome: International consensus diagnostic criteria

Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B., Lindsley, A. W., Merla, G., Miyake, N., Okamoto, N., Stumpel, C. T. & Niikawa, N., Feb 1 2019, In : Journal of medical genetics. 56, 2, p. 89-95 7 p.

Research output: Contribution to journalArticle

Molecular Biology
Nictitating Membrane
Developmental Disabilities