Brendan Lanpher, MD

Assistant Professor, Rochester, MN, Medical Genetics

EmailLanpher.Brendan@mayo.edu

Source: Scopus
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1423 Citations
19 Scopus h-Index
57 Article
5 Review article
2 Comment/debate
1 Chapter

A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T. & 38 others, Milone, M., Nicolau, S., Maroofian, R., Houlden, H., Hanna, M. G., Quinlivan, R., Beiraghi Toosi, M., Ghayoor Karimiani, E., Costagliola, S., Deconinck, N., Kadhim, H., Macke, E., Lanpher, B. C., Klee, E. W., Łusakowska, A., Kostera-Pruszczyk, A., Hahn, A., Schrank, B., Nishino, I., Ogasawara, M., El Sherif, R., Stojkovic, T., Nelson, I., Bonne, G., Cohen, E., Boland-Augé, A., Deleuze, J. F., Meng, Y., Töpf, A., Vilain, C., Pacak, C. A., Rivera-Zengotita, M. L., Bönnemann, C. G., Straub, V., Handford, P. A., Draper, I., Walter, G. A. & Kang, P. B., May 6 2021, In: American journal of human genetics. 108, 5, p. 840-856 17 p.
Research output: Contribution to journal › Article › peer-review
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Undiagnosed Diseases Network, Apr 2021, In: Genetics in Medicine. 23, 4, p. 740-750 11 p.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Scopus citations
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Undiagnosed Diseases Network, 2021, (Accepted/In press) In: American Journal of Medical Genetics, Part A.
Research output: Contribution to journal › Article › peer-review
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria
Perales-Clemente, E., Hewitt, A. L., Studinski, A. L., Tillema, J. M., Laxen, W. J., Oglesbee, D., Graff, A. H., Rinaldo, P. & Lanpher, B. C., Mar 1 2021, In: JIMD Reports. 58, 1, p. 21-28 8 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Undiagnosed Diseases Network, Feb 2021, In: Genetics in Medicine. 23, 2, p. 259-271 13 p.
Research output: Contribution to journal › Article › peer-review

A form of muscular dystrophy associated with pathogenic variants in JAG2

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science