|
| 36343670 | Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length. | Exp Eye Res | 2023 |
| 37181331 | <i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. | HGG Adv | 2023 |
| 36748709 | Practical considerations for reinterpretation of individual genetic variants. | Genet Med | 2023 |
| 35063312 | Epigenetic mechanisms of inner ear development. | Hear Res | 2022 |
| 35767006 | Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. | Genet Med | 2022 |
| 35636563 | Gender Differences in Endowed Chairs in Pediatrics. | J Pediatr | 2022 |
| 35453010 | Corrigendum to "Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice" [Mech. Dev. 129 (9-12) (2012) 308-23 (PMID 22705977)]. | Cells Dev | 2022 |
| 36288662 | Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion. | Hear Res | 2022 |
| 35917186 | GIGYF1 disruption associates with autism and impaired IGF-1R signaling. | J Clin Invest | 2022 |
| 34004180 | Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning. | Dev Biol | 2021 |
| 33500566 | Development and implementation of an electronic medical record module to track genetic testing results. | Genet Med | 2021 |
| 33555312 | Association of Salary Differences Between Medical Specialties With Sex Distribution. | JAMA Pediatr | 2021 |
| 34729379 | <i>GJB2</i> gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function. | Mol Ther Methods Clin Dev | 2021 |
| 34015165 | Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study. | Hum Mutat | 2021 |
| 34124068 | Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the Cochlea. | Front Cell Dev Biol | 2021 |
| 31618753 | Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. | Pediatr Res | 2020 |
| 31833191 | Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. | Am J Med Genet C Semin Med Genet | 2020 |
| 33060836 | CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression. | Sci Rep | 2020 |
| 32868239 | Erratum to "The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder" [Dev. Cognit. Neurosci. 24 April (2017) 12-20]. | Dev Cogn Neurosci | 2020 |
| 32202513 | Changing the editorial process at JCI and JCI Insight in response to the COVID-19 pandemic. | J Clin Invest | 2020 |
| 30455064 | Neural crest contributions to the ear: Implications for congenital hearing disorders. | Hear Res | 2019 |
| 31353023 | De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. | Am J Hum Genet | 2019 |
| 31021519 | Mutation update for the SATB2 gene. | Hum Mutat | 2019 |
| 29191495 | Atopic disorders in CHARGE syndrome: A retrospective study and literature review. | Eur J Med Genet | 2018 |
| 29920279 | Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. | Dev Cell | 2018 |
| 30010627 | Balancing dual demands on the physician-scientist workforce. | J Clin Invest | 2018 |
| 30108144 | Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8. | Proc Natl Acad Sci U S A | 2018 |
| 30459807 | Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the <i>Chd7</i> Mutant Mouse Ear. | Front Genet | 2018 |
| 29467333 | CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. | JCI Insight | 2018 |
| 29311329 | Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. | Proc Natl Acad Sci U S A | 2018 |
| 29330883 | Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Hum Mutat | 2018 |
| 29300383 | Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. | Genet Med | 2018 |
| 29248671 | Chromatin in nervous system development and disease. | Mol Cell Neurosci | 2018 |
| 29196188 | Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers. | Mol Cell Neurosci | 2018 |
| 27932498 | Harnessing molecular motors for nanoscale pulldown in live cells. | Mol Biol Cell | 2017 |
| 28088648 | The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder. | Dev Cogn Neurosci | 2017 |
| 28126363 | It's All in the Delivery: Improving AAV Transfection Efficiency with Exosomes. | Mol Ther | 2017 |
| 28241200 | Support for the Diagnosis of CHARGE Syndrome. | JAMA Otolaryngol Head Neck Surg | 2017 |
| 29082607 | Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures. | Am J Med Genet C Semin Med Genet | 2017 |
| 29171162 | New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. | Am J Med Genet C Semin Med Genet | 2017 |
| 28639940 | Genetic specification of left-right asymmetry in the diaphragm muscles and their motor innervation. | Elife | 2017 |
| 26996150 | Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. | Am J Med Genet A | 2016 |
| 26590800 | Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. | Am J Med Genet A | 2016 |
| 26647312 | De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. | Hum Mol Genet | 2016 |
| 27640307 | Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. | Am J Hum Genet | 2016 |
| 26850571 | Duplication 2p25 in a child with clinical features of CHARGE syndrome. | Am J Med Genet A | 2016 |
| 26928066 | Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. | Nat Neurosci | 2016 |
| 26754144 | 12th International CHARGE syndrome conference proceedings. | Am J Med Genet A | 2016 |
| 25124216 | Axial level-specific regulation of neuronal development: lessons from PITX2. | J Neurosci Res | 2015 |
| 26569311 | Super Enhancers in Cancers, Complex Disease, and Developmental Disorders. | Genes (Basel) | 2015 |