|
| 36714130 | The practice of genomic medicine: A delineation of the process and its governing principles. | Front Med (Lausanne) | 2023 |
| 37609289 | Expanding the genotype-phenotype spectrum in SCN8A-related disorders. | Res Sq | 2023 |
| 37460202 | Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes. | J Med Genet | 2023 |
| 37316189 | Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. | J Med Genet | 2023 |
| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
| 37036408 | Characterization of Switch/Sucrose Nonfermenting Complex Proteins and Nestin Expression in a Cohort of Pediatric Central Nervous System Tumors. | Appl Immunohistochem Mol Morphol | 2023 |
| 35234333 | Primary cutaneous follicle center lymphoma of the medial canthus of the eye in an 11-year old. | Pediatr Blood Cancer | 2022 |
| 35442193 | The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice. | Genet Med | 2022 |
| 35599849 | Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study. | HGG Adv | 2022 |
| 36068917 | Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines. | Prenat Diagn | 2022 |
| 34143952 | Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. | Am J Hum Genet | 2021 |
| 33523537 | Crizotinib response in a neuroblastoma patient with a constitutional mosaic anaplastic lymphoma kinase I1170N-activating mutation. | Pediatr Blood Cancer | 2021 |
| 34617981 | Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes. | JAMA Oncol | 2021 |
| 34390037 | Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report. | Pediatr Dermatol | 2021 |
| 34062100 | Coaching the coaches: Employing role modeling and coaching as a faculty development strategy. | Med Teach | 2021 |
| 31595648 | Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. | Hum Mutat | 2020 |
| 33134827 | Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology. | JNCI Cancer Spectr | 2020 |
| 32656483 | The Orthopaedic Management of Human Disorganization Syndrome. | J Am Acad Orthop Surg Glob Res Rev | 2020 |
| 31403913 | Loss of BRG1 (<i>SMARCA4</i>) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort. | Pediatr Dev Pathol | 2020 |
| 30326482 | Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant. | Horm Res Paediatr | 2019 |
| 31072725 | PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications. | Cancer Genet | 2019 |
| 30916422 | Bye to burnout: intergenerational narratives break barriers. | Med Educ | 2019 |
| 31172278 | RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges. | Eur J Pediatr | 2019 |
| 30449657 | Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. | Neuron | 2018 |
| 28017370 | De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. | Am J Hum Genet | 2017 |
| 28211985 | A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome. | Am J Med Genet A | 2017 |
| 28539120 | Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. | BMC Genomics | 2017 |
| 28658971 | Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features. | J Cutan Med Surg | 2017 |
| 27276562 | Exome Sequencing and the Management of Neurometabolic Disorders. | N Engl J Med | 2016 |
| 27416790 | Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature. | Pediatr Transplant | 2016 |
| 25348728 | Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. | Am J Med Genet A | 2015 |
| 25703386 | GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation. | Hum Mutat | 2015 |
| 24362817 | Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. | Nat Genet | 2014 |
| 24958424 | AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset. | Neurogenetics | 2014 |
| 23482262 | Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. | J Pediatr Orthop | 2013 |
| 23913586 | Severe hypospadias and its association with maternal-placental factors. | Am J Med Genet A | 2013 |
| 23837641 | Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. | BMC Cancer | 2013 |
| 23653584 | The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations. | Mol Syndromol | 2013 |
| 23713011 | The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. | Am J Med Genet A | 2013 |
| 23416622 | Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. | Eur J Med Genet | 2013 |
| 21943145 | CCMG statement on direct-to-consumer genetic testing. | Clin Genet | 2012 |
| 23051176 | CCMG statement on gene patents. | Clin Genet | 2012 |
| 22729224 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | Nat Genet | 2012 |
| 21271658 | Cerebrovasculopathy in NF1 associated with ocular and scalp defects. | Am J Med Genet A | 2011 |
| 19653273 | Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer. | Int J Cancer | 2010 |
| 20049496 | Prevalence of dental caries in children with neurofibromatosis 1. | Clin Oral Investig | 2010 |
| 19205071 | A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. | Mov Disord | 2009 |
| 19893772 | The identification of Lynch syndrome in British Columbia. | Can J Gastroenterol | 2009 |
| 19921644 | Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and review. | Am J Med Genet A | 2009 |
| 19917086 | Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. | BMC Genomics | 2009 |