Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth …

KM Davey, JS Parboosingh, DR McLeod… - Journal of medical …, 2006 - jmg.bmj.com
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA)
syndrome, has been identified in the Canadian Dariusleut Hutterite population, …

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

…, PI Sergouniotis, FS Alkuraya, JS Parboosingh… - Nature cell …, 2015 - nature.com
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in …

[PDF][PDF] TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

…, OE Blacque, D Doherty, JS Parboosingh… - The American Journal of …, 2011 - cell.com
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

[PDF][PDF] Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

…, J Shendure, MJ Bamshad, JS Parboosingh - The American Journal of …, 2012 - cell.com
Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …

[PDF][PDF] Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8

…, DW Nebert, AM Innes, JS Parboosingh… - The American Journal of …, 2015 - cell.com
Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors;
various human studies and animal models have demonstrated the importance of Mn and …

[PDF][PDF] Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

…, JN Scott, DR McLeod, JS Parboosingh - The American Journal of …, 2005 - cell.com
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation
is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in …

[HTML][HTML] Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

…, FP Bernier, AM Innes, JS Parboosingh… - The Journal of …, 2017 - Am Soc Clin Investig
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …

[PDF][PDF] TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

…, AF Rope, PYB Au, JS Parboosingh, S Moon… - The American Journal of …, 2015 - cell.com
We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

[PDF][PDF] A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

…, B Schwarze, RE Lamont, JS Parboosingh… - The American Journal of …, 2014 - cell.com
Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping
clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical …

[PDF][PDF] Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

…, P Nürnberg, C Ober, R Heller, JS Parboosingh… - The American Journal of …, 2013 - cell.com
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range
from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features …