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| 29560582 | A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9. | J Inherit Metab Dis | 2018 |
| 29851065 | A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. | Clin Genet | 2018 |
| 27102954 | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | Clin Genet | 2017 |
| 28170084 | Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. | Clin Genet | 2017 |
| 28324114 | Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. | Invest Ophthalmol Vis Sci | 2017 |
| 28371264 | Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites. | Am J Med Genet A | 2017 |
| 27671926 | A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. | Am J Med Genet A | 2017 |
| 27241786 | Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. | CMAJ | 2016 |
| 26373900 | A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. | Am J Med Genet A | 2016 |
| 26283276 | Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. | Clin Genet | 2016 |
| 27306203 | Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. | JIMD Rep | 2016 |
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| 26251998 | PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. | Hum Mutat | 2015 |
| 26289954 | Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. | Curr Neurol Neurosci Rep | 2015 |
| 26637978 | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | Am J Hum Genet | 2015 |
| 26637979 | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | Am J Hum Genet | 2015 |
| 26167768 | An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. | Nat Cell Biol | 2015 |
| 25791106 | Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. | Int J Cardiol | 2015 |
| 25589244 | LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. | Clin Genet | 2015 |
| 25316601 | Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. | Neurobiol Aging | 2015 |
| 25330800 | Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. | J Child Neurol | 2015 |
| 23844659 | Whole-exome sequencing expands the phenotype of Hunter syndrome. | Clin Genet | 2014 |
| 24903190 | Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. | Epilepsia | 2014 |
| 24906018 | FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. | Am J Hum Genet | 2014 |
| 24669931 | Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. | BMC Med Genet | 2014 |
| 24706940 | Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. | J Med Genet | 2014 |
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| 24479948 | The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. | BMC Neurol | 2014 |
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| 24164096 | Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. | Clin Genet | 2014 |
| 23290074 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. | Am J Hum Genet | 2013 |
| 23621943 | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. | Orphanet J Rare Dis | 2013 |
| 23621916 | Intellectual disability associated with a homozygous missense mutation in THOC6. | Orphanet J Rare Dis | 2013 |
| 23810382 | Mutations in PIK3R1 cause SHORT syndrome. | Am J Hum Genet | 2013 |
| 23542699 | Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. | Nat Genet | 2013 |
| 22183355 | Congenital stationary night blindness: mutation update and clinical variability. | Adv Exp Med Biol | 2012 |
| 23181892 | Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. | Orphanet J Rare Dis | 2012 |
| 22704758 | A generalizable pre-clinical research approach for orphan disease therapy. | Orphanet J Rare Dis | 2012 |
| 22729224 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | Nat Genet | 2012 |
| 22305528 | Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. | Am J Hum Genet | 2012 |
| 22265015 | Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. | Am J Hum Genet | 2012 |
| 22152675 | TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. | Am J Hum Genet | 2011 |
| 20618352 | A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. | Clin Genet | 2010 |
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| 19332571 | Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). | J Child Neurol | 2009 |