Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemiaPraseetha Kizhakkedath, Bassam R. Ali, Anne John et al.|FEBS Open Bio|2019Cited by 53
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular traffickingAdila Al‐Kindi, Bassam R. Ali, Praseetha Kizhakkedath et al.|BMC Medical Genetics|2014Cited by 33
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertensionAnne John, Bassam R. Ali, Praseetha Kizhakkedath et al.|Gene|2015Cited by 23
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvementNadia Akawi, Lihadh Al‐Gazali, Salma Ben‐Salem et al.|Orphanet Journal of Rare Diseases|2016Cited by 21
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndromePraseetha Kizhakkedath, Bassam R. Ali, Lihadh Al‐Gazali et al.|Scientific Reports|2018Cited by 19