Research Output per year
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
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 journal › Review 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 journal › Article
Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype
Erratum: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (The American Journal of Human Genetics (2018) 103(5) (666–678), (S0002929718303173), (10.1016/j.ajhg.2018.09.006))
Task Force for Neonatal Genomics & Deciphering Developmental Disorders Study, Mar 7 2019, In : American journal of human genetics. 104, 3, 1 p.Research output: Contribution to journal › Comment/debate
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 journal › Review 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 journal › Article
Consensus
Molecular Biology
Nictitating Membrane
Eyebrows
Developmental Disabilities