Dr Sarju Mehta - Publications

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

01 Nov 2022

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis

01 Jul 2022

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

01 Mar 2022

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

27 Oct 2020

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

07 Oct 2020

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

27 Feb 2020

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

16 Jul 2019

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

30 Jul 2015

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

01 Feb 2006

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 Mar 2004