Item Type | Name |
Academic Article
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Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
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Academic Article
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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
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Academic Article
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
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Academic Article
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Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
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Academic Article
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Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia.
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Academic Article
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
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Academic Article
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
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Academic Article
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.
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Academic Article
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CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
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Academic Article
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Non-random X chromosome inactivation in Aicardi syndrome.
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Academic Article
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Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
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Academic Article
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Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
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Academic Article
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Facial and physical features of Aicardi syndrome: infants to teenagers.
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Academic Article
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Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
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Academic Article
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
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Academic Article
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Assessing sex assignment concordance with genotype and phenotype.
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Concept
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Phenotype
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Academic Article
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
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Academic Article
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Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
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Academic Article
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
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Academic Article
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TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
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Academic Article
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
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Academic Article
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
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Academic Article
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Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
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Academic Article
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Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
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Academic Article
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
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Academic Article
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PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.
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Academic Article
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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
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Academic Article
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
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Academic Article
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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Academic Article
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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
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Academic Article
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
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Academic Article
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
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Academic Article
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
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Academic Article
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
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Academic Article
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
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Academic Article
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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
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Grant
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Clinical Phenotype of Imprinted Genes of Chromosome 14
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Grant
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Discovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias.
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Academic Article
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Mobility in osteogenesis imperfecta: a multicenter North American study.
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Academic Article
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Pathogenic Variants in GPC4 Cause Keipert Syndrome.
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Academic Article
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
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Academic Article
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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
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Academic Article
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Reanalysis of Clinical Exome Sequencing Data.
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Academic Article
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
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Academic Article
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A Genocentric Approach to Discovery of Mendelian Disorders.
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Academic Article
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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
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Academic Article
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
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Academic Article
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
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Academic Article
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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
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Academic Article
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Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
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Academic Article
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Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
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Academic Article
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Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
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Academic Article
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Extremity anomalies associated with Robinow syndrome.
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Academic Article
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Craniofacial phenotypes associated with Robinow syndrome.
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Academic Article
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
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Academic Article
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
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Academic Article
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Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.
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Academic Article
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A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
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Academic Article
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Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.
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