Karthik Muthusamy

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 8

Top Topics

Spectrum Disorder

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Annals of neurology

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Ananthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, Maya Thomas, Sniya Valsa Sudhakar, Chetan Ghati, Sumita Danda, Gautham Arunachal Udupi
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event. European journal of human genetics : EJHG (2022)
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzysciak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M McGovern, Joel M Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek-Andrews, Austin Larson, Christina Lam, Andrew C Edmondson, Bart Ghesquière, Peter Witters, Kimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan O Perlstein, Tamas Kozicz, Eva Morava
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Annals of neurology 90 (6) (2021)
Karthik Muthusamy, Alejandro Ferrer, Eric W Klee, Klaas J Wierenga, Ralitza H Gavrilova
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Molecular genetics & genomic medicine 9 (10) (2021)
Karthik Muthusamy, John P Fasolino, Erika D Driver-Dunckley, Radhika Dhamija
Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas. Annals of neurology 89 (3) (2021)
Karthik Muthusamy, Aseel El-Jabali, Laura J Ongie, Radhika Dhamija, Dusica Babovic-Vuksanovic
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums. American journal of medical genetics. Part A (2021)
Karthik Muthusamy, Christian Hanna, Derek R Johnson, Carl H Cramer, Peter J Tebben, Sharon E Libi, Gayla L Poling, Brendan C Lanpher, Eva Morava, Lisa A Schimmenti
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. American journal of medical genetics. Part A 185 (1) (2020)
Karthik Muthusamy, Erica L Macke, Eric W Klee, Peter J Tebben, Jennifer L Hand, Linda Hasadsri, Cherisse A Marcou, Lisa A Schimmenti
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American journal of medical genetics. Part A 182 (10) (2020)
Karthik Muthusamy, Maciej M Mrugala, Bernard R Bendok, Radhika Dhamija
LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis. Molecular genetics & genomic medicine 9 (1) (2020)