KM
Karthik Muthusamy
Research areas: Biochemistry, Genetics and Molecular Biology · Clinical Biochemistry · Metabolism and Genetic Disorders · Genomics and Rare Diseases · Hereditary Neurological Disorders
0000-0003-1009-6555
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Publications (15)
- A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies Save
- Chorea-Acanthocytosis Without Chorea: VPS13A Disease Manifesting as Parkinsonism Save
- MYH11‐Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations Save
- Expanding the Phenotype of TLK2‐Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females Save
- Acetazolamide‐Responsive Exertion‐Triggered Episodic Ataxia in DHDDS‐Related Congenital Disorder of Glycosylation Save
- Late-onset symmetric cervical and upper thoracic lipomatosis as a presenting manifestation of mitochondrial disorder Save
- Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy Save
- Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions Save
- Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event Save
- Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums Save
- Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants Save
- Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas Save
- 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 Save
- LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis Save
- Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD Save