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SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608
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- Publication type:
- Article
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
- Published in:
- PLoS Biology, 2016, v. 14, n. 3, p. 1, doi. 10.1371/journal.pbio.1002416
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- Article
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
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- Article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
- Published in:
- Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5
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- Publication type:
- Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
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- Publication type:
- Article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8
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- Publication type:
- Article
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
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- Publication type:
- Article
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869
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- Publication type:
- Article
Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1836
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- Article
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
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- Publication type:
- Article
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
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- Publication type:
- Article
Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1497, doi. 10.1002/ajmg.a.62677
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- Publication type:
- Article
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 792, doi. 10.1002/ajmg.a.61487
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- Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
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- Article
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490
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- Publication type:
- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Publication type:
- Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
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- Publication type:
- Article
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
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- Publication type:
- Article
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06466-1
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- Publication type:
- Article
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124
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- Publication type:
- Article
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109
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- Publication type:
- Article
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 732, doi. 10.1111/cge.13933
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- Publication type:
- Article
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 643, doi. 10.1111/cge.14045
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- Publication type:
- Article
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840
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- Publication type:
- Article
Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 433, doi. 10.1111/cge.13764
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- Publication type:
- Article
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 19, doi. 10.1111/cge.13752
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- Publication type:
- Article
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 4, p. 171, doi. 10.1111/ahg.12459
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- Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
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- 2021
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- Publication type:
- journal article
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 6343, doi. 10.1007/s00415-024-12565-0
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- Publication type:
- Article
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349
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- Publication type:
- Article
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488
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- Publication type:
- Article
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.852472
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- Publication type:
- Article
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591
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- Publication type:
- Article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
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- Publication type:
- Article
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
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- Publication type:
- Article
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2430, doi. 10.1002/humu.23885
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- Publication type:
- Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
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- Publication type:
- Article
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1122985
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- Publication type:
- Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
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- Publication type:
- Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
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- Publication type:
- Article