List of works - Saquib A. Lakhani

A Novel Pathogenic Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome

scientific article published on 01 November 2018

A crucial role of caspase-3 in osteogenic differentiation of bone marrow stromal stem cells

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

scientific article published on 12 November 2018

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

scientific article published on 21 December 2017

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

scientific article published on 16 April 2020

Acid-Base Disorders

scientific article

Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.

scientific article

Caspases 3 and 7: key mediators of mitochondrial events of apoptosis

scientific journal article

Caspases and T lymphocytes: a flip of the coin?

scientific article

Comparison of Transferred Versus Nontransferred Pediatric Patients Admitted for Sepsis

scientific article published on January 2016

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

scientific article published on 06 July 2020

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants

scientific article published on 13 July 2020

Data Science for Child Health

article

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

scientific article published on 15 October 2018

Endoplasmic reticulum stress-induced death of mouse embryonic fibroblasts requires the intrinsic pathway of apoptosis.

scientific article published on 19 March 2007

Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis

scientific article published on 28 December 2016

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

scientific article published on 17 July 2019

JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation

scientific article published on 06 December 2012

Molar tooth development in caspase-3 deficient mice.

scientific article published in January 2006

Natural sunscreen revealed

scientific article published on 01 December 2001

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

scientific article published on 21 May 2020

Role of the executioner caspases during lens development.

scientific article published on 30 June 2005

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

scientific article published on 03 June 2019

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence

scientific article published on 19 August 2020

Toll-like receptor signaling in sepsis

scientific article

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases

scientific article published on 06 October 2018

Whole Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome

scientific article published on 01 August 2019

List of works by Saquib A. Lakhani

A Novel Pathogenic Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome

A crucial role of caspase-3 in osteogenic differentiation of bone marrow stromal stem cells

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

Acid-Base Disorders

Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.

Caspases 3 and 7: key mediators of mitochondrial events of apoptosis

Caspases and T lymphocytes: a flip of the coin?

Comparison of Transferred Versus Nontransferred Pediatric Patients Admitted for Sepsis

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants

Data Science for Child Health

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Endoplasmic reticulum stress-induced death of mouse embryonic fibroblasts requires the intrinsic pathway of apoptosis.

Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation

Molar tooth development in caspase-3 deficient mice.

Natural sunscreen revealed

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

Role of the executioner caspases during lens development.

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence

Toll-like receptor signaling in sepsis

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases

Whole Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome