Naseebullah Kakar
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View article: Haplotype Phasing of Biallelic <scp> <i>WNT10B</i> </scp> Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome
Haplotype Phasing of Biallelic <span> <i>WNT10B</i> </span> Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome Open
Split‐hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born…
View article: Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias Open
Sk eletal d ysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are often caused by variants in earl…
View article: STIGMA: Single-cell tissue-specific gene prioritization using machine learning
STIGMA: Single-cell tissue-specific gene prioritization using machine learning Open
Clinical exome and genome sequencing have revolutionized the understanding of human disease genetics. Yet many genes remain functionally uncharacterized, complicating the establishment of causal disease links for genetic variants. While se…
View article: GGC expansion in<i>ZFHX3</i>causes SCA4 and impairs autophagy
GGC expansion in<i>ZFHX3</i>causes SCA4 and impairs autophagy Open
Despite linkage to 16q in 1996, the mutation for spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, escaped detection for 25 years. Using long- read PacBio-HiFi and ONT-Nanopre sequencing and bioinformatic an…
View article: Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms Open
Introduction Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients and eventually reduces their IQ level below 70. Methods The current genetic stud…
View article: Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan Open
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have …
View article: Exome sequencing and CRISPR/Cas genome editing identify mutations of <i>ZAK</i> as a cause of limb defects in humans and mice
Exome sequencing and CRISPR/Cas genome editing identify mutations of <i>ZAK</i> as a cause of limb defects in humans and mice Open
The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families charac…