Lailá Bastaki
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Muscle Physiology and Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Using Whole-Exome Sequencing to Identify Inherited Causes of Autism(2013)457 cited
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis(2013)141 cited
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility(2018)58 cited
- → Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families(2011)56 cited
- → Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait(2009)48 cited
- → Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia(2013)43 cited
- → Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine(2018)43 cited
- → Trisomy 18 in Kuwait(1999)35 cited