Donna M. Martin

Donna M. Martin, S. Gebarski, E. Petty, 2003, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

5-HTTLPR GENOTYPE AND AMYGDALA CONNECTIVITY IN ASD 1 The Influence of 5-HTTLPR Transporter Genotype on Amygdala-Subgenual Anterior Cingulate Cortex Connectivity in Autism Spectrum Disorder

Christopher S. Monk, Donna M. Martin, C. Lord, 2016 .

Neural crest contributions to the ear: Implications for congenital hearing disorders

Donna M. Martin, K. E. Ritter, E. K. Ritter, 2019, Hearing Research.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Christopher S. Poultney, Stephan J Sanders, Stephen J. Guter, 2017, Molecular Autism.

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.

Donna M. Martin, W. Layman, Elizabeth A. Hurd, 2011, Human molecular genetics.

Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the Cochlea

Donna M. Martin, G. Giovinazzo, M. Alonso, 2021, Frontiers in Cell and Developmental Biology.

Chd7 Cooperates with Sox10 and Regulates the Onset of CNS Myelination and Remyelination

Donna M. Martin, D. Witte, D. Choo, 2016, Nature Neuroscience.

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.

Donna M. Martin, Y. Raphael, W. Layman, 2014, Human molecular genetics.

Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers

Donna M. Martin, A. Moccia, 2017, Molecular and Cellular Neuroscience.

Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.

Donna M. Martin, Ethan D. Sperry, Joseph A. Micucci, 2015, Stem cells and development.

Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8

Bassem A. Hassan, Donna M. Martin, B. Hassan, 2018, Proceedings of the National Academy of Sciences.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Donna M. Martin, G. Green, Caitlin L Hale, 2016, American journal of medical genetics. Part A.

Epigenetic Developmental Disorders: CHARGE Syndrome, a Case Study

Donna M. Martin, 2015, Current Genetic Medicine Reports.

Single-cell lineage trajectories and chromatin regulators that initialize antiviral CD8 T cell ontogeny

Donna M. Martin, Jihye Kim, A. Goldrath, 2021, bioRxiv.

Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling

Donna M. Martin, B. Novitch, Kaia Skaggs, 2011, Development.

Axial level‐specific regulation of neuronal development: Lessons from PITX2

Donna M. Martin, M. R. Waite, 2015, Journal of neuroscience research.

Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2

Stephan J Sanders, Donna M. Martin, D. Ledbetter, 2014, Autism research : official journal of the International Society for Autism Research.

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression

Stephen C. J. Parker, Donna M. Martin, P. Scacheri, 2020, Scientific Reports.

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Donna M. Martin, J. Meisner, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Donna M. Martin, S. Lalani, Philippe M. Campeau, 2018, Proceedings of the National Academy of Sciences.

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Donna M. Martin, Jun Z. Li, C. Skinner, 2012, Journal of Medical Genetics.

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Donna M. Martin, X. Kong, Zhanhui Zhang, 2021, Human mutation.

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

Donna M. Martin, W. Layman, P. Scacheri, 2010, American journal of medical genetics. Part A.

ipt Recurrent Deletions and Duplications of Chromosome 2 q 11 . 2 and 2 q 13 are Associated with Variable Outcomes

Donna M. Martin, Ankita Patel, S. Lalani, 2015 .

It's All in the Delivery: Improving AAV Transfection Efficiency with Exosomes.

Donna M. Martin, Y. Raphael, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.

Donna M. Martin, Y. Raphael, P. Scacheri, 2018, JCI insight.

Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.

Donna M. Martin, Xinran Dong, Lingli Xu, 2018, Developmental cell.

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures

Donna M. Martin, Y. Raphael, D. Choo, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.

Donna M. Martin, Elizabeth A. Hurd, P. Gage, 2015, Investigative ophthalmology & visual science.

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders

Stephen C. J. Parker, Donna M. Martin, Arushi Varshney, 2015, Genes.

Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice

Donna M. Martin, Elizabeth A. Hurd, Elyse Reamer, 2012, Mechanisms of Development.

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear

Donna M. Martin, Y. Raphael, Elizabeth A. Hurd, 2010, Development.

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.

Donna M. Martin, P. Scacheri, P. Tesar, 2010, Human molecular genetics.

Chromatin Remodeling in Development and Disease: Focus on CHD7

Donna M. Martin, 2010, PLoS genetics.

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues

Donna M. Martin, Y. Raphael, P. L. Capers, 2007, Mammalian Genome.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Donna M. Martin, Ayesha Ahmad, M. Hannibal, 2019, Pediatric Research.

Role of PITX2 in the Pituitary Gland

Donna M. Martin, S. Camper, I. Nasonkin, 2005 .

PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain.

Donna M. Martin, Y. Raphael, S. Camper, 2004, Developmental biology.

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome

Donna M. Martin, Y. Raphael, Jennifer Benson, 2011, Hearing Research.

CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia

Donna M. Martin, Sarah B. Emery, S. Mukherji, 2014, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus

Donna M. Martin, James F. Martin, J. Cramer, 2008, Molecular and Cellular Neuroscience.

Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development

Donna M. Martin, H. Hamada, H. Shiratori, 2013, Molecular and Cellular Neuroscience.

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Donna M. Martin, J. Thoene, J. Bedoyan, 2013, Pediatric neurology.

Brain glutamine by MRS in a patient with urea cycle disorder and coma.

Donna M. Martin, P. Sundgren, D. Quint, 2005, Pediatric neurology.

Genetics of subthalamic nucleus in development and disease

Donna M. Martin, R. Albin, S. T. Philips, 2005, Experimental Neurology.

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Donna M. Martin, Y. Raphael, L. Beyer, 2003, Human molecular genetics.

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.

Donna M. Martin, J. Murray, B. Amendt, 2005, Biochemistry.

Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2

Donna M. Martin, F. Causeret, J. Skidmore, 2012, Molecular and Cellular Neuroscience.

Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders.

Johnna R Swartz, Jillian Lee Wiggins, Catherine Lord, 2014, Social cognitive and affective neuroscience.

Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion

Donna M. Martin, Y. Raphael, L. Beyer, 2022, Hearing Research.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

Have You Heard? Viral-Mediated Gene Therapy Restores Hearing

Donna M. Martin, Y. Raphael, 2012, Neuron.

C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation

Donna M. Martin, Yasushi Kobayashi, K. Kaida, 2013, Neuroscience Letters.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Christopher S. Poultney, Stephan J Sanders, Stephen J. Guter, 2017, Molecular Autism.

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Donna M. Martin, Y. Raphael, W. Layman, 2009, Human molecular genetics.

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders

Stephen C. J. Parker, Donna M. Martin, Arushi Varshney, 2015, Genes.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

The 20th International Mammalian Genome Conference Meeting Report

Donna M. Martin, Elizabeth A. Hurd, 2007, Mammalian Genome.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Donna M. Martin, A. Chinnaiyan, Xuhong Cao, 2016, Human molecular genetics.

The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder

Christopher S. Monk, Donna M. Martin, C. Lord, 2016, Developmental Cognitive Neuroscience.

Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling

Donna M. Martin, B. Novitch, Kaia Skaggs, 2011, Development.

Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.

Donna M. Martin, Ethan D. Sperry, Joseph A. Micucci, 2015, Stem cells and development.