Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: diagnostic yield, utility and challenges in a resource-limited setting
RP Chand, W Vinit, V Vaidya, AS Iyer, M Shelke… - European Journal of …, 2023 - Elsevier
Whole exome sequencing is recommended as the first tier test for neurodevelopmental
disorders (NDDs) with trio being an ideal option for the detection of de novo variants. Cost …
disorders (NDDs) with trio being an ideal option for the detection of de novo variants. Cost …
Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability
MS Protasova, TV Andreeva, SA Klyushnikov… - International Journal of …, 2023 - mdpi.com
Metabotropic glutamate receptor 1 (mGluR1) plays a crucial role in slow excitatory
postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The …
postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The …
Variant reclassification and recontact research: A scoping review
A Thummala, R Sudhakaran, A Gurram… - Genetics in Medicine …, 2024 - Elsevier
Background A primary challenge in clinical genetics is accurate interpretation of identified
variants and relaying the information to patients and providers. Inconsistencies around …
variants and relaying the information to patients and providers. Inconsistencies around …
Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification
K Zhang, K Löhner, HH Lemmink, M Boon… - Human Genetics and …, 2025 - cell.com
Epileptic encephalopathies are severe epilepsy syndromes characterized by early onset
and progressive cerebral dysfunction. A nonsense variant in the DALR anticodon binding …
and progressive cerebral dysfunction. A nonsense variant in the DALR anticodon binding …