| MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition |
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| MG-126 A<i>de novo</i>truncating mutation in the chromatin remodeler chd8 in a patient with autism, macrocephaly and overgrowth |
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| MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology |
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| MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases |
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| MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency |
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| MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect |
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| MG-142 Improved motor function with 5-hydroxytryptophan in a family with systemic serotonin deficiency, hemiplegic migraines and neurodegenerative course |
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| MG-144 When rare happens: Characterising atypical breakpoints in CML |
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| MG-115 Colorectal cancer patients with BRCA1 and BRCA2 mutations: Preparing for unexpected results |
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| MG-116 Determining a genetic cause for familial intracranial aneurysms |
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| MG-117 Clinical features of prc2 complex-related overgrowth due to mutations in eed |
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| MG-118 Developing a multidisciplinary fragile X and related conditions clinic in victoria, BC |
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| MG-101 Mutations preventing regulated exon skipping of a receptor tyrosine kinase cause a developmental disorder of osteogenesis |
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| MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations |
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| MG-125 CYP21A2 mutation spectrum in congenital adrenal hyperplasia identified from molecular genetic testing |
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| MG-129 Our experience of<i>in silico</i>gene panel testing for clinically heterogeneous disorders using exome sequencing |
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| MG-104 Fetal jugular lymph sacs – what is the significance?: Abstract MG-104 Table 1 |
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| MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl |
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| MG-123 Genomics of early pregnancy loss |
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| MG-137 Autosomal recessive disorders are common in the old order amish population of southwestern ontario |
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| MG-138 Co-occurrence of cohen syndrome with 16p11.2 duplication: The exome sequencing approach |
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| MG-139 Non-penetrance, variable expressivity or non pathogenicity of abcc9 dilated cardiomyopathy (DCM) mutation in 3 generation kindred |
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| MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation |
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| MG-146 Potential biological explanations for no results for sex chromosome aneuploidy assessment using directed cell-free DNA analysis: A summary of three cases |
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| MG-116 Report of 2 families with emberger syndrome (GATA2 mutation): Recognition of variance in clinical phenotype allows detection prior to malignant presentation |
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| MG-100 Review of a large family with schwannomatosis identifies an expanded phenotype |
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| MG-111 Clinical genetics education: Building foundations using e-modules for paediatric residents |
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| MG-112 A KMT2D mutation segregating in a family presenting with autosomal dominant choanal atresia reinforces the kabuki/charge connexion |
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| MG-119 Genetic polymorphism in the vitamin D receptor gene and 25-hydroxyvitamin D serum levels in east indian women with polycystic ovary syndrome |
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east indian |
| MG-124 The investicate project: Identification of new variation, establishment of stem cells, and tissue collection advancing treatment efforts |
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| MG-126 Data sharing and variant classification consensus building in the canadian open genetics repository (COGR) |
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| MG-105 Delineating the phenotypes associated with the 15q11.2 BP1-BP2 deletion: Preliminary trends in psychometric evaluation |
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| MG-145 Importance of fetal fraction analysis for CFDNA testing in the general pregnancy population: Abstract MG-145 Table 1 |
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| MG-147 Canadian open genetics repository (COGR): A unified clinical genome database as a community resource for standardising and sharing genetic interpretations |
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| MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A |
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| MG-114 First 2 years of experience of an integrated multidisciplinary clinic for adults with aortopathies in a canadian context |
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| MG-110 Intravenous neonatal gene therapy corrects GM2 gangliosidoses in sandhoff mice for ‘long-term’, by using an aav expressing a new hexosaminidase variant |
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| MG-113 A case ‘out of the blue’ |
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| MG-114 Clinical actionability of multi-gene panel tests for hereditary breast and ovarian cancer (HBOC) |
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| MG-120 Chorionic villus sampling: 3 cases with discrepancies between ifish, array-cgh and karyotype |
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| MG-122 Atypical fish pattern consistent with insertion of 5’ CBFB into 16p13 in a case of therapy-related acute myeloid leukaemia |
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| MG-127 Residual disease monitoring in a retinoblastoma patient by pcr of a novel deletion breakpoint |
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| MG-130 Utilising whole exome sequencing to identify causative variants in genetically heterogeneous disorders |
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| MG-107 Multiple pathogenic variants identified by next-generation sequencing hereditary cancer panel testing – a case report |
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| MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children |
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| MG-105 Facial dysmorphism, skeletal abnormalities and central nervous system abnormalities in two sibs born to a consanguineous couple: A new autosomal recessive condition |
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| MG-118 Towards understanding phenotypic variability using exome sequencing |
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| MG-124 Zebrafish as an emerging model for human disease |
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| MG-131 Incidental germline findings in tumour molecular profiling by next generation sequencing |
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| MG-135 Metabolic diet app suite: Digital medicine to support families with inborn errors of metabolism |
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| MG-140 17Q21.31 microdeletion syndrome: A description of two cases |
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| MG-143 Age is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation |
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| MG-108 Agenesis of the corpus callosum and autism associated with zeb1 gene deletion – a case report |
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| MG-109 A novel 0.34 MB microduplication of 9Q34.3 in a patient with congenital cardiac defects and learning disabilities |
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| MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel |
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| Author Index |
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| MG-102 Coffin-siris syndrome caused by a missense mutation in arid1a |
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| MG-131 ZNF259 is a candidate gene for alopecia-primordial dwarfism-renal syndrome (APDRS) |
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| MG-133 Development and launch of an expanded pan-ethnic carrier screening panel |
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| MG-136 Functional analysis of the autism and intellectual disability gene PTCHD1 reveals hedgehog receptor-like functions and pdz-binding domain-specific regulation of CNTNAP1 and NLGN1 |
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| MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria |
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| MG-117 Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus |
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| MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up |
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| MG-128 Use of prenatal array comparative genomic hybridization in cases of fetal structural cardiac anomalies: New cases and review of the literature |
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| MG-129 The development of a genetic newborn screening assay for permanent hearing loss using blood spots – a collaboration between newborn screening ontario (NSO) and the infant hearing program (IHP) |
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| MG-130 Pure duplication of 1q42.11-q44(QTER): Further clinical delineation of a rare terminal duplication syndrome |
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| MG-132 Next-generation sequencing in the neonatal intensive care unit: Pilot data from 12 newborns |
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| MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by a case with 46, x,der (x)t (x;16)(p11.2;p13.2) karyotype |
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| MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine |
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| MG-134 Validation of a customizable next generation sequencing panel for ear and eye diseases |
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| MG-135 P300 regulates glucose homeostasis by maintaining islet mass |
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| MG-103 Determining genetics referral eligibility for hereditary breast/ovarian cancer risk assessment: An electronic solution |
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| Author index |
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| Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population |
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| CRISPR-Cas9 for medical genetic screens: applications and future perspectives |
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| Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive<i>WNT1</i>mutations |
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| Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration |
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| High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome |
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| Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies |
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| The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles |
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| Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families |
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| Low-level<i>APC</i>mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases |
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| Intragenic<i>KANSL1</i>mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients |
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| Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy |
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| Correction |
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| Homozygous missense mutation in the<i>LMAN2L</i>gene segregates with intellectual disability in a large consanguineous Pakistani family |
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| Identification of germline<i>DICER1</i>mutations and loss of heterozygosity in familial Wilms tumour |
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| Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation |
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| Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous<i>OPA1</i>mutation |
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| Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
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| Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene |
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Ashkenazi-Jewish |
| <i>UNC80</i>mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel<i>NALCN</i> |
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| Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome |
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| Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome |
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| Too many numbers and complexity: time to update the classifications of neurogenetic disorders? |
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| MicroRNA-129-1 acts as tumour suppressor and induces cell cycle arrest of GBM cancer cells through targeting IGF2BP3 and MAPK1 |
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| A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement |
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| MKS1 regulates ciliary INPP5E levels in Joubert syndrome |
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| Hypomyelination and developmental delay associated with<i>VPS11</i>mutation in Ashkenazi-Jewish patients |
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Ashkenazi-Jewish |
| Genome-wide significant association with seven novel multiple sclerosis risk loci |
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| Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape |
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| Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran |
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| A human laterality disorder caused by a homozygous deleterious mutation in<i>MMP21</i> |
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| <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome |
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| Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins |
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| Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases |
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| Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion |
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| Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients |
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| WGSA: an annotation pipeline for human genome sequencing studies |
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| Identification of a pathogenic<i>FTO</i>mutation by next-generation sequencing in a newborn with growth retardation and developmental delay |
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| Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes |
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| ceRNA in cancer: possible functions and clinical implications |
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| Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>) |
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| Melanoma genetics |
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| Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans |
✓ |
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African Americans |
| Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines |
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| Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort |
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| Neurogenetic evidence in the courtroom: a randomised controlled trial with German judges |
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| Inherited predisposition to colorectal cancer: towards a more complete picture |
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| Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes |
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| Mutations in<i>COQ4</i>, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy |
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| <i>IFT81</i>, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype |
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| Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients |
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| <i>WAC</i>loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome |
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| Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses |
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| Charcot–Marie–Tooth diseases: an update and some new proposals for the classification |
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| Cowden's syndrome with immunodeficiency |
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| Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues |
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| Comprehensive spectrum of<i>BRCA1</i>and<i>BRCA2</i>deleterious mutations in breast cancer in Asian countries |
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| Haplotype-based approach to known MS-associated regions increases the amount of explained risk |
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| A homozygous missense variant in type I keratin<i>KRT25</i>causes autosomal recessive woolly hair |
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| Whole exome sequencing identifies<i>LRP1</i>as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans |
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| Monogenic and chromosomal causes of isolated speech and language impairment |
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| A<i>CASQ1</i>founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia |
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| Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2 |
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| Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity |
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| Lynch syndrome caused by<i>MLH1</i>mutations is associated with an increased risk of breast cancer: a cohort study |
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| Continued lessons from the<i>INS</i>gene: an intronic mutation causing diabetes through a novel mechanism |
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| Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families |
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| Rescue of primary ubiquinone deficiency due to a novel<i>COQ7</i>defect using 2,4–dihydroxybensoic acid |
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| Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative str |
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| Recessive<i>DEAF1</i>mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy |
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| Breakpoint mapping by whole genome sequencing identifies<i>PTH2R</i>gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement |
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| Mutations in<i>SLC1A4</i>, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination |
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| Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome |
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| Streamlining review of research involving humans: Canadian models: Table 1 |
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| Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus |
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| The<i>BRCA2</i>polymorphic stop codon: stuff or nonsense? |
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| Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type |
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| Contribution of the low-frequency, loss-of-function p.R270H mutation in<i>FFAR4</i>(<i>GPR120</i>) to increased fasting plasma glucose levels |
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| A risk prediction algorithm for ovarian cancer incorporating<i>BRCA1, BRCA2</i>, common alleles and other familial effects |
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| Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a<i>CDH1</i>germline mutation |
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| Potential research participants support the return of raw sequence data |
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| Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline<i>CDH1</i>mutation carriers |
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| Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder |
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| Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration |
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Tunisian Jewish |
| A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome |
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| The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists |
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| A mutation of<i>MET</i>, encoding hepatocyte growth factor receptor, is associated with human<i>DFNB97</i>hearing loss |
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| Scientific Writing for Impact Factor Journals |
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| Progressive influence of body mass index-associated genetic markers in rural Gambians |
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| A germline mutation in<i>PBRM1</i>predisposes to renal cell carcinoma |
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| Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations |
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| Prevalence of<i>MLH1</i>constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer |
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| Pallister-Killian syndrome: a study of 22 British patients |
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| Nonsense mutation in the<i>WDR73</i>gene is associated with Galloway-Mowat syndrome |
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| Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure |
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| Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome |
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| Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease |
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| Loss-of-function de novo mutations play an important role in severe human neural tube defects |
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| Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder |
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| The heritability of leucocyte telomere length dynamics |
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| A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in<i>MYO18B</i> |
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| Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single<i>FLNA</i>mutation with combined gain-of-function and loss-of-function effects |
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| A founder<i>MYBPC3</i>mutation results in HCM with a high risk of sudden death after the fourth decade of life |
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| De novo gain-of-function and loss-of-function mutations of<i>SCN8A</i>in patients with intellectual disabilities and epilepsy |
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| Bilateral vestibular schwannomas in older patients: NF2 or chance? |
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| Positional mapping of<i>PRKD1</i>,<i>NRP1</i>and<i>PRDM1</i>as novel candidate disease genes in truncus arteriosus |
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| Correction |
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| Correction |
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| CRISPR-Cas9: a new and promising player in gene therapy |
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| A homozygous<i>PMS2</i>founder mutation with an attenuated constitutional mismatch repair deficiency phenotype |
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| A novel<i>APC</i>mutation defines a second locus for Cenani–Lenz syndrome |
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| Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>) |
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| Metabolic abnormalities in Williams–Beuren syndrome |
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| Disruption of<i>CLPB</i>is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria |
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| BRCA1 Circos: a visualisation resource for functional analysis of missense variants |
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| Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders |
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| <i>DCAF4</i>, a novel gene associated with leucocyte telomere length |
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| Transmission of germline<i>TP53</i>mutations from male carriers to female partners |
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| A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A |
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| Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 |
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| <i>MuSK</i>: a new target for lethal fetal akinesia deformation sequence (FADS) |
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| Copy number variation of two separate regulatory regions upstream of<i>SOX9</i>causes isolated 46,XY or 46,XX disorder of sex development |
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| Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma |
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| Mutations in<i>COA3</i>cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature |
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| mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing |
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| Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease |
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| Mapping the functional landscape of frequent<i>phenylalanine hydroxylase</i>(<i>PAH</i>) genotypes promotes personalised medicine in phenylketonuria |
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| Correction |
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| Evidence of digenic inheritance in Alport syndrome |
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| SeqHBase: a big data toolset for family based sequencing data analysis |
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| The twisting tale of woolly hair: a trait with many causes |
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| The kinetochore protein,<i>CENPF</i>, is mutated in human ciliopathy and microcephaly phenotypes |
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| A tribute to Margaret W. Thompson |
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