Research output per year
Research output per year
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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.
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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Undiagnosed Diseases Network, Jul 2022, In: Genetics in Medicine. 24, 7, p. 1567-1582 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
Undiagnosed Disease Network, Feb 2022, In: Journal of Genetic Counseling. 31, 1, p. 59-70 12 p.Research output: Contribution to journal › Article › peer-review
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Schalk, A., Cousin, M. A., Dsouza, N. R., Challman, T. D., Wain, K. E., Powis, Z., Minks, K., Trimouille, A., Lasseaux, E., Lacombe, D., Angelini, C., Michaud, V., Van-Gils, J., Spataro, N., Ruiz, A., Gabau, E., Stolerman, E., Washington, C., Louie, R., Lanpher, B. C., & 52 others, 2022, (Accepted/In press) In: Journal of medical genetics. jmedgenet-2021-107751.Research output: Contribution to journal › Article › peer-review
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Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Undiagnosed Diseases Network, Apr 2022, In: Journal of Genetic Counseling. 31, 2, p. 326-337 12 p.Research output: Contribution to journal › Article › peer-review
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Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
Undiagnosed Disease Network, Apr 1 2022, In: Molecular Genetics and Genomic Medicine. 10, 4, e1892.Research output: Contribution to journal › Article › peer-review
Open Access