Thachillath Pramathan

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg et al. · The American Journal of Human Genetics · 2012 · 182 citations · Full text

Medicine, Genetics, Molecular Genetics +6

Centromeric inactivation in a dicentric human Y;21 translocation chromosome

Andrew Fisher, Lihadh Al‐Gazali, Thachillath Pramathan et al. · Chromosoma · 1997 · 39 citations

Life Sciences, Genetics, Molecular Genetics +12

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Nadia Akawi, Salma Ben‐Salem, Jozef Hertecant et al. · Orphanet Journal of Rare Diseases · 2016 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gonadal mosaicism in <i>ARID1B</i> gene causes intellectual disability and dysmorphic features in three siblings

Salma Ben‐Salem, Nara Sobreira, Nadia Akawi et al. · American Journal of Medical Genetics Part A · 2015 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17

Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben‐Salem, Nara L. M. Sobreira, Angeline M. Lyon et al. · Journal of Medical Genetics · 2017 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17