Associate Professor, Pediatrics and Communicable Diseases, University of Michigan Medical School
Medical Genetics
Dr. Donna M. Martin, MD
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Donna Martin is an expert in the field of Medical Genetics. He went to medical school at University of Michigan Medical School. He has 1 awards "Elected Member". Donna M. Martin, MD is a published doctor and has 49 publications published. The lastest was: 'Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.'
Publications
- Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
- Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
- Axial level-specific regulation of neuronal development: lessons from PITX2.
- Chromodomain Helicase DNA-Binding Proteins in Stem Cells and Human Developmental Diseases.
- Inappropriate p53 activation during development induces features of CHARGE syndrome.
- A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
- The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.
- Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2.
- Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
- Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait.
- "Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders"
- Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
- Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development.
- Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
- Have you heard? Viral-mediated gene therapy restores hearing.
- Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice.
- A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders.
- The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: A preliminary report.
- Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2.
- A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract.
- Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism.
- Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
- BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
- Chromatin remodeling in development and disease: focus on CHD7.
- Duplication 16p11.2 in a child with infantile seizure disorder.
- Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
- A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
- Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearran...
- Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus.
- Characterization of progenitor domains in the developing mouse thalamus.
- Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.
- The 20th International Mammalian Genome Conference meeting report.
- Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.
- Nestin-Cre mediated deletion of Pitx2 in the mouse.
- Genetics of subthalamic nucleus in development and disease.
- Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.
- Brain glutamine by MRS in a patient with urea cycle disorder and coma.
- Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome.
- PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain.
- Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet.
- Characterization of a stapes ankylosis family with a NOG mutation.
- Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.
- Gene-based diagnostic and treatment methods for tinnitus.
- Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium.
- Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, t...
- Exclusion of PITX2 mutations as a major cause of CHARGE association.
- Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.
Schools
University of Mi Med Sch
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Choice Plus POS II
- Amerigroup (Wellpoint)
- Blue Card PPO
- Blue Cross Blue Shield of Illinois PPO
- Blue Care Network PCP Focus Network
- Group Employees PPO
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Cofinity PPO
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- Health Alliance
- Preferred PPO
- Choice Care PPO
- Medicaid
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- PHP-Physicians Health Plan
- Tricare
- Choice Plus POS
- Options PPO
- United Healthcare
Awards
- Elected Member
Education
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University of Michigan Hospitals and Health Centers -
University of Michigan Medical School
Hospital
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University of Michigan Hospitals and Health Centers
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