Brendan Lanpher, MD

  • 1003 Citations
  • 15 Scopus h-Index
19942019
If you made any changes in Pure, your changes will be visible here soon.

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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

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
Glycosylation
Coagulation
Mannosyltransferases
Dolichol

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

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype
Megalencephaly
Dyskinesias
Medical Genetics
Brain Diseases
Contracture

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
Hyperammonemia
Ammonia
Steroids
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

Consensus
Molecular Biology
Nictitating Membrane
Eyebrows
Developmental Disabilities