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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Research output
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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant
Undiagnosed Diagnosis Network, 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
Undiagnosed Diseases Network, Jan 2022, In: Science Advances. 8, 3, eabl5613.Research output: Contribution to journal › Article › peer-review
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Undiagnosed Diseases Network, Feb 2022, In: Human mutation. 43, 2, p. 266-282 17 p.Research output: Contribution to journal › Article › peer-review
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Variable clinical severity in TANGO2 deficiency: Case series and literature review
Undiagnosed Diseases Network, Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 473-487 15 p.Research output: Contribution to journal › Article › peer-review
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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, , May 6 2021, In: American journal of human genetics. 108, 5, p. 840-856 17 p.Research output: Contribution to journal › Article › peer-review
Open Access