Subhadra Ramanathan

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

Subhadra Ramanathan, Abigail Woodroffe, Pamela Flodman et al. · BMC Medical Genetics · 2004 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho et al. · The American Journal of Human Genetics · 2014 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

Eric Muller, Swaroop Aradhya, Joan Atkin et al. · American Journal of Medical Genetics Part A · 2011 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur, Justin Blair, Batsal Devkota et al. · American Journal of Medical Genetics Part A · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne O’Donnell‐Luria, Emanuela Argilli et al. · Journal of Medical Genetics · 2021 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17