Concepedia

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Kathleen M. Schieffer, Katherine E. Miller, Vibhuti Agarwal, Daniel C. Koboldt, Patrick J. Brennan, Benjamin Kelly, Ashita Dave‐Wala, Christopher R. Pierson, Jonathan L. Finlay, Mohamed S Abdelbaki,

European Journal of Medical Genetics · 2019 · 17 citations · 24 references

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24

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Transcriptional landscape of the prenatal human brain

Jeremy A. Miller, Song‐Lin Ding, Susan M. Sunkin et al. · Nature · 2014 · 1.4K citations · Full text

, , +14

Intertumoral Heterogeneity within Medulloblastoma Subgroups

Florence M.G. Cavalli, Marc Remke, Ladislav Rampášek et al. · Cancer Cell · 2017 · 1.3K citations · Full text

, , +14

Mutation of the c-Cbl TKB Domain Binding Site on the Met Receptor Tyrosine Kinase Converts It into a Transforming Protein

Pascal Peschard, Tanya M. Fournier, Louie Lamorte et al. · Molecular Cell · 2001 · 451 citations · Full text

, , +16

Klippel-Feil Syndrome

Michael R. Tracy, John P. Dormans, Kenro Kusumi · Clinical Orthopaedics and Related Research · 2004 · 248 citations

, , +10