Concepedia

Anh-Thu N. Lam

AN

Statistics

Publications

11

Citations

958

H-Index

11

Active since

2013

Affiliations

Johns Hopkins University(Current)

Howard Hughes Medical Institute

Boston Children's Hospital

Johns Hopkins Medicine

Harvard University

Anh-Thu N. Lam is an author at Johns Hopkins University specializing in life sciences, genetics, and molecular genetics.

Publications per year

2013–2021

11

Publications

11

Somatic Mutations in Cerebral Cortical Malformations

Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher et al. · New England Journal of Medicine · 2014 · 394 citations · Full text

, , +17

Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

L. Benjamin Hills, Amira Masri, Kotaro Konno et al. · Neurology · 2013 · 102 citations · Full text

, , +17

Biallelic mutations in human DCC cause developmental split-brain syndrome

Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama et al. · Nature Genetics · 2017 · 79 citations · Full text

, , +12

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Melissa Lee, Patrick Roos, Neeraj Sharma et al. · The American Journal of Human Genetics · 2017 · 79 citations · Full text

, , +16

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Qing Ouyang, Tojo Nakayama, Ozan Baytaş et al. · Proceedings of the National Academy of Sciences · 2016 · 69 citations · Full text

, , +17

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