All Stories

  1. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
  2. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
  3. Role of Fibronectin in Postnatal Skeletal Development
  4. OXR1 maintains the retromer to delay brain aging under dietary restriction
  5. Mutations in Fibronectin Dysregulate Chondrogenesis in Corner Fracture Type Spondylometaphyseal Dysplasia
  6. An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
  7. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
  8. Gpr18 agonist dampens inflammation, enhances myogenesis, and restores muscle function in models of Duchenne muscular dystrophy
  9. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
  10. The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice
  11. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
  12. The <em>ATP6V1B2 </em>DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice
  13. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
  14. The Quebec Dental Anomalies Registry: Identifying genes for rare disorders
  15. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
  16. Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
  17. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals
  18. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
  19. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
  20. A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous <i>SIX6</i> Variant
  21. ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy
  22. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa
  23. Fibronectin isoforms in skeletal development and associated disorders
  24. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
  25. MED27 , SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
  26. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
  27. Ethanolamine‐phosphate on the second mannose is a preferential bridge for some GPI‐anchored proteins
  28. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
  29. OXR1 maintains the retromer to delay brain aging under dietary restriction
  30. A Discussion With Dr. Philippe Campeau, Medical Geneticist and Clinician-Scientist
  31. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
  32. C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures
  33. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
  34. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
  35. Variable expressivity in a family with an aggrecanopathy
  36. Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
  37. Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
  38. Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
  39. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
  40. Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
  41. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
  42. An all-encompassing variant classification system proposed
  43. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
  44. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome
  45. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
  46. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI ‐anchored proteins
  47. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
  48. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
  49. Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case
  50. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
  51. Response to Gao et al.
  52. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
  53. Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability
  54. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
  55. Free GPI is the elusive Emm antigen
  56. Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
  57. Expanding the phenotype of PIGS ‐associated early onset epileptic developmental encephalopathy
  58. PIGF deficiency causes a phenotype overlapping with DOORS syndrome
  59. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
  60. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
  61. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
  62. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly
  63. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations
  64. Ethanolamine phosphate on the second mannose as bridge in GPI anchored proteins: Towards understanding inherited PIGG deficiency
  65. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
  66. Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study
  67. Biallelic variants in GLE1 with survival beyond neonatal period
  68. DOORS syndrome and a recurrent truncating ATP6V1B2 variant
  69. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene
  70. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
  71. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)
  72. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
  73. MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction
  74. Disrupted minor intron splicing is prevalent in Mendelian disorders
  75. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
  76. The minor and major spliceosome interact to regulate alternative splicing around minor introns
  77. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
  78. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
  79. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
  80. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
  81. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
  82. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
  83. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
  84. Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome
  85. Genetic burden contributing to extremely low or high bone mineral density in a senior male population from the Osteoporotic Fractures in Men (MrOS) study
  86. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
  87. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder
  88. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
  89. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
  90. A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia
  91. Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL
  92. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
  93. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1
  94. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
  95. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
  96. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
  97. Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
  98. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
  99. Polyhydramnios: sole risk factor for non-traumatic fractures in two infants
  100. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
  101. Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants
  102. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
  103. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  104. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
  105. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
  106. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”
  107. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
  108. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
  109. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  110. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
  111. Genetics of the patella
  112. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
  113. Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis
  114. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
  115. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
  116. MYOD1 involvement in myopathy
  117. Mutations in the gene CHD3 can cause a language disorder with cognitive delays and a larger head.
  118. Hot water epilepsy and SYN1 variants
  119. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
  120. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons
  121. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
  122. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
  123. Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila
  124. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
  125. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
  126. Arginase overexpression in neurons and its effect on traumatic brain injury
  127. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders
  128. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
  129. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism
  130. Recessive mutations in >VPS13D cause childhood onset movement disorders
  131. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
  132. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome
  133. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
  134. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
  135. Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification
  136. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
  137. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
  138. Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
  139. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
  140. Genomic approaches to diagnose rare bone disorders
  141. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia
  142. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
  143. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
  144. A challenging case of hyperphosphatemic tumoral calcinosis
  145. Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability
  146. Retrospective Analysis of Congenital Scoliosis
  147. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations
  148. Yunis-Varón syndrome caused by biallelic VAC14 mutations
  149. TBC1D24 associated with autosomal dominant tonic-clonic and myoclonic epilepsy
  150. MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts
  151. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy
  152. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
  153. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
  154. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and aTUBB3mutation
  155. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
  156. Genetic Testing in a Cohort of Complex Esophageal Atresia
  157. Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations
  158. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
  159. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
  160. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
  161. FHF1 (FGF12) epileptic encephalopathy: Table
  162. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
  163. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
  164. TBC1D24genotype–phenotype correlation
  165. LMX1B and the Nail-Patella Syndrome
  166. Epilepsy in KCNH1-related syndromes
  167. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
  168. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
  169. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
  170. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
  171. Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
  172. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
  173. FBN1contributing to familial congenital diaphragmatic hernia
  174. Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis
  175. Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
  176. Urea Cycle
  177. A longitudinal study of urea cycle disorders
  178. DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
  179. Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing
  180. Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis
  181. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
  182. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders
  183. Myhre and LAPS syndromes: clinical and molecular review of 32 patients
  184. The genetic basis of DOORS syndrome: an exome-sequencing study
  185. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
  186. The Undernourished Neonatal Mouse Metabolome Reveals Evidence of Liver and Biliary Dysfunction, Inflammation, and Oxidative Stress
  187. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition
  188. Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene
  189. Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation
  190. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development
  191. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
  192. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass
  193. Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase
  194. WNT1Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
  195. Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
  196. Early childhood presentation of Czech dysplasia
  197. Next-generation sequencing for disorders of low and high bone mineral density
  198. Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis
  199. Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis
  200. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
  201. TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
  202. Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency
  203. Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
  204. miRNA-34c regulates Notch signaling during bone development
  205. Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
  206. Requirement of argininosuccinate lyase for systemic nitric oxide production
  207. Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study
  208. Management of West Syndrome in a Patient With Methylmalonic Aciduria
  209. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome
  210. Long-term outcome in methylmalonic aciduria: A series of 30 French patients
  211. Mesenchymal Stromal Cells Ameliorate Experimental Autoimmune Encephalomyelitis by Inhibiting CD4 Th17 T Cells in a CC Chemokine Ligand 2-Dependent Manner
  212. Clinical Heterogeneity in Ethylmalonic Encephalopathy
  213. Selective Inhibition of CCR2 Expressing Lymphomyeloid Cells in Experimental Autoimmune Encephalomyelitis by a GM-CSF-MCP1 Fusokine
  214. Mesenchymal Stromal Cells Engineered to Express Erythropoietin Induce Anti-erythropoietin Antibodies and Anemia in Allorecipients
  215. Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature
  216. 57 Neo-organoid of mesenchymal stem cells engineered to secrete a CC-chemokine chimeric fusokine reverses EAE
  217. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
  218. Hereditary breast cancer: new genetic developments, new therapeutic avenues
  219. Neurotransmitter diseases and related conditions
  220. Transfection of large plasmids in primary human myoblasts
  221. Functional EGFP–dystrophin fusion proteins for gene therapy vector development