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Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
- Published in:
- Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
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- Publication type:
- Article
Inappropriate p53 activation during development induces features of CHARGE syndrome.
- Published in:
- Nature, 2014, v. 514, n. 7521, p. 228, doi. 10.1038/nature13585
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- Publication type:
- Article
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x
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- Publication type:
- Article
Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00473
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- Publication type:
- Article
The 20th International Mammalian Genome Conference Meeting Report.
- Published in:
- 2007
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- Publication type:
- Correction notice
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
- Published in:
- Human Mutation, 2021, v. 42, n. 8, p. 990, doi. 10.1002/humu.24222
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- Publication type:
- Article
Mutation update for the SATB2 gene.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
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- Publication type:
- Article
Association of Salary Differences Between Medical Specialties With Sex Distribution.
- Published in:
- JAMA Pediatrics, 2021, v. 175, n. 5, p. 524, doi. 10.1001/jamapediatrics.2020.5683
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- Publication type:
- Article
Support for the Diagnosis of CHARGE Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders.
- Published in:
- Social Cognitive & Affective Neuroscience, 2014, v. 9, n. 6, p. 832, doi. 10.1093/scan/nst039
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- Publication type:
- Article
Common genetic variants, acting additively, are a major source of risk for autism.
- Published in:
- Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
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- Publication type:
- Article
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 597, doi. 10.1093/hmg/ddv499
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- Publication type:
- Article
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 434, doi. 10.1093/hmg/ddt435
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- Publication type:
- Article
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3138, doi. 10.1093/hmg/ddr216
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- Publication type:
- Article
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3491, doi. 10.1093/hmg/ddq265
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- Publication type:
- Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
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- Publication type:
- Article
Chromatin Remodeling in Development and Disease: Focus on CHD7.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 7, p. 1, doi. 10.1371/journal.pgen.1001010
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- Publication type:
- Article
Reversibility of Serum Removal Effects on IGF-II mRNA in Human Neuroblastoma Cells.
- Published in:
- Annals of the New York Academy of Sciences, 1993, v. 692, n. 1, p. 259, doi. 10.1111/j.1749-6632.1993.tb26227.x
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- Publication type:
- Article
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2797, doi. 10.1093/hmg/ddg308
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- Publication type:
- Article
Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 81, doi. 10.1002/ajmg.c.31761
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- Publication type:
- Article
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 397, doi. 10.1002/ajmg.c.31592
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- Publication type:
- Article
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 439, doi. 10.1002/ajmg.c.31587
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- Publication type:
- Article
Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet.
- Published in:
- 2003
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- Publication type:
- journal article
The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.
- Published in:
- Developmental Dynamics, 2014, v. 243, n. 9, p. 1055, doi. 10.1002/dvdy.24156
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- Publication type:
- Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
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- Publication type:
- Article
Axial level-specific regulation of neuronal development: Lessons from PITX2.
- Published in:
- Journal of Neuroscience Research, 2015, v. 93, n. 2, p. 195, doi. 10.1002/jnr.23471
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- Publication type:
- Article
A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract.
- Published in:
- Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 1, p. 67, doi. 10.1002/dvg.20793
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- Publication type:
- Article
CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-74537-4
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- Publication type:
- Article
Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.
- Published in:
- Genes, 2015, v. 6, n. 4, p. 1183, doi. 10.3390/genes6041183
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- Publication type:
- Article
Response to Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3367, doi. 10.1002/ajmg.a.37629
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- Publication type:
- Article
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1148, doi. 10.1002/ajmg.a.37592
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- Publication type:
- Article
12th International CHARGE syndrome conference proceedings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 856, doi. 10.1002/ajmg.a.37544
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- Publication type:
- Article
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 344, doi. 10.1002/ajmg.a.37435
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- Publication type:
- Article
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2664, doi. 10.1002/ajmg.a.37269
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- Publication type:
- Article
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2062, doi. 10.1002/ajmg.a.36569
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- Publication type:
- Article
Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
- Published in:
- Human Brain Mapping, 2014, v. 35, n. 2, p. 646, doi. 10.1002/hbm.22208
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- Publication type:
- Article
Changing the editorial process at JCI and JCI Insight in response to the COVID-19 pandemic.
- Published in:
- 2020
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- Publication type:
- editorial
Balancing dual demands on the physician-scientist workforce.
- Published in:
- 2018
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- Publication type:
- journal article