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Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
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- Clinical Genetics, 2017, v. 91, n. 3, p. 426, doi. 10.1111/cge.12876
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- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
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- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- 2013
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- Publication type:
- journal article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
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- Publication type:
- Article
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8327, doi. 10.3390/ijms21218327
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- Publication type:
- Article
Rod‐cone dystrophy in an adult with GNB1‐related disorder: An expansion of the phenotype and natural history.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 183, doi. 10.1002/ajmg.c.32045
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- Publication type:
- Article
A diagnostic approach to syndromic retinal dystrophies with intellectual disability.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 538, doi. 10.1002/ajmg.c.31834
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- Publication type:
- Article
Unsolved recognizable patterns of human malformation: Challenges and opportunities.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 382, doi. 10.1002/ajmg.c.31665
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- Publication type:
- Article
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 387, doi. 10.1002/ajmg.c.31661
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- Publication type:
- Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
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- Publication type:
- Article
Fifty years of recognizable patterns of human malformation: Insights and opportunities.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2653, doi. 10.1002/ajmg.a.62240
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- Publication type:
- Article
CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 827, doi. 10.1002/ajmg.a.62011
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- Publication type:
- Article
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3040, doi. 10.1002/ajmg.a.61898
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- Publication type:
- Article
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 674, doi. 10.1002/ajmg.a.61063
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- Publication type:
- Article
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2487, doi. 10.1002/ajmg.a.40516
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- Publication type:
- Article
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1452, doi. 10.1002/ajmg.a.38227
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- Publication type:
- Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 596, doi. 10.1002/ajmg.a.37983
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- Publication type:
- Article
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 760, doi. 10.1002/ajmg.a.37514
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- Publication type:
- Article
A Novel Mutation in Two Hmong Families Broadens the Range of STRA6-Related Malformations to Include Contractures and Camptodactyly.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 11, doi. 10.1002/ajmg.a.37389
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- Publication type:
- Article
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 676, doi. 10.1002/ajmg.a.36340
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- Publication type:
- Article
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 441, doi. 10.1002/ajmg.a.36320
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- Publication type:
- Article
The hutterite variant of treacher collins syndrome: A 28-year-old story solved.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2855, doi. 10.1002/ajmg.a.36172
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- Publication type:
- Article
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1229, doi. 10.1002/ajmg.a.35302
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- Publication type:
- Article
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
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- Human Genetics, 2014, v. 133, n. 3, p. 321, doi. 10.1007/s00439-013-1379-z
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- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
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- Publication type:
- Article
Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 9, p. 975, doi. 10.1515/jpem.2010.156
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- Publication type:
- Article
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.
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- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 5, p. 1, doi. 10.1093/g3journal/jkac067
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- Publication type:
- Article
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
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- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2329, doi. 10.1111/jcmm.13154
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- Publication type:
- Article
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06466-1
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- Publication type:
- Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
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- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
ANKRD11 variants: KBG syndrome and beyond.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
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- Publication type:
- Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
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- Publication type:
- Article
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
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- Clinical Genetics, 2020, v. 97, n. 6, p. 835, doi. 10.1111/cge.13736
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- Publication type:
- Article
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16.
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- Annals of Neurology, 2003, v. 53, n. 5, p. 596
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- Publication type:
- Article
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 312, doi. 10.1002/mgg3.206
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- Publication type:
- Article
De novo variants in MPP5 cause global developmental delay and behavioral changes.
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- Human Molecular Genetics, 2020, v. 29, n. 20, p. 3388, doi. 10.1093/hmg/ddaa224
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- Publication type:
- Article
Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 952, doi. 10.1093/hmg/ddy391
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- Publication type:
- Article
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cε) impairing TORC2-dependent AKT activation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 19, p. 3713, doi. 10.1093/hmg/ddx256
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- Publication type:
- Article
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5109, doi. 10.1093/hmg/ddv229
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- Publication type:
- Article
Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.
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- Journal of Registry Management, 2016, v. 43, n. 1, p. 6
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- Publication type:
- Article
Optimizing genotype quality metrics for individual exomes and cohort analysis.
- Published in:
- 2012
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- Publication type:
- Abstract
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 486, doi. 10.1002/ajmg.a.33857
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- Publication type:
- Article
Correspondence.
- Published in:
- 2001
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- Publication type:
- Letter
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.
- Published in:
- 2017
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- Publication type:
- journal article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
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- Publication type:
- Article
Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling.
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- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 283, doi. 10.1002/pd.2209
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- Publication type:
- Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
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- Publication type:
- Article
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1015, doi. 10.1002/humu.22843
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- Publication type:
- Article