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Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00762
- By:
- Publication type:
- Article
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00434
- By:
- Publication type:
- Article
GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 6, p. 413, doi. 10.1177/0883073818756134
- By:
- Publication type:
- Article
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 1, p. 106, doi. 10.1177/0883073817740443
- By:
- Publication type:
- Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The genotypic and phenotypic spectrum of PIGA deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
- By:
- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
- By:
- Publication type:
- Article
The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.
- Published in:
- 2012
- By:
- Publication type:
- journal article
The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 47, doi. 10.1186/1750-1172-7-47
- By:
- Publication type:
- Article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
- Published in:
- 2022
- By:
- Publication type:
- journal article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16669912
- By:
- Publication type:
- Article
Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 9, p. 3805, doi. 10.1007/s00431-023-05050-9
- By:
- Publication type:
- Article
Hospital-to-home transitions for children with medical complexity: part 2—a core outcome set.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 9, p. 3833, doi. 10.1007/s00431-023-05049-2
- By:
- Publication type:
- Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 712, doi. 10.1002/ajmg.a.37621
- By:
- Publication type:
- Article
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
A novel classification system for research reporting in rare and progressive genetic conditions.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 6, p. 565, doi. 10.1111/j.1469-8749.2010.03907.x
- By:
- Publication type:
- Article
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0132-5
- By:
- Publication type:
- Article
All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64480-z
- By:
- Publication type:
- Article
Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.
- Published in:
- 2014
- By:
- Publication type:
- Opinion
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 6, doi. 10.1038/sj.ejhg.5201279
- By:
- Publication type:
- Article
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 325, doi. 10.1515/jpem-2021-0508
- By:
- Publication type:
- Article
Dietary management for pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 188, doi. 10.1002/jmd2.12418
- By:
- Publication type:
- Article
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01909-5
- By:
- Publication type:
- Article
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00058
- By:
- Publication type:
- Article
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 5, p. 732, doi. 10.1093/clinchem/hvab276
- By:
- Publication type:
- Article
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1206106
- By:
- Publication type:
- Article
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
- Published in:
- 2021
- By:
- Publication type:
- journal article
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
- Published in:
- 2021
- By:
- Publication type:
- clinical trial
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3671-0
- By:
- Publication type:
- Article
Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 956, doi. 10.1002/jimd.12643
- By:
- Publication type:
- Article
Exploring genotype–phenotype correlations in glutaric aciduria type 1.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 371, doi. 10.1002/jimd.12608
- By:
- Publication type:
- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
- By:
- Publication type:
- Article
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 197, doi. 10.1002/jimd.12008
- By:
- Publication type:
- Article
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 435, doi. 10.1007/s10545-018-0139-6
- By:
- Publication type:
- Article
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
- By:
- Publication type:
- Article
The role of the clinician in the multi-omics era: are you ready?
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
- By:
- Publication type:
- Article
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 555, doi. 10.1007/s10545-017-0125-4
- By:
- Publication type:
- Article
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 1, p. 46, doi. 10.1093/hmg/ddac173
- By:
- Publication type:
- Article
A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2019.01369
- By:
- Publication type:
- Article
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03361-0
- By:
- Publication type:
- Article
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03264-0
- By:
- Publication type:
- Article
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03323-6
- By:
- Publication type:
- Article
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
- Published in:
- Genetics, 2017, v. 207, n. 4, p. 1501, doi. 10.1534/genetics.117.300137
- By:
- Publication type:
- Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
- By:
- Publication type:
- Article