Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine

Medical Genetics

Dr. Frank J. Probst, MD

Dr. Frank J. Probst works in the field of Medical Genetics. He went to medical school at Baylor College of Medicine. Dr. Frank J. Probst is also a published doctor. He has 37 publication published. The most recent publication is: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Publications

Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies.
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements.
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator.
Mutation discovery in mice by whole exome sequencing.
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Detection of clinically relevant exonic copy-number changes by array CGH.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Mouse mutagenesis with the chemical supermutagen ENU.
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.
Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice.
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome.
Exclusion of PITX2 mutations as a major cause of CHARGE association.
A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus).
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11.
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Hair cells in the inner ear of the pirouette and shaker 2 mutant mice.
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
The role of mouse mutants in the identification of human hereditary hearing loss genes.
Characterisation and genetic mapping of a new X linked deafness syndrome.
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.
Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Doctors Specialties

Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Aetna HMO
Choice Plus POS II
Amerigroup (Wellpoint)
Blue Card PPO
Blue Choice
Cigna HMO
Cigna PPO
Great West Healthcare-Cigna PPO
LocalPlus
Open Access Plus
Commercial Insurance Company
Emblem Health
Health Alliance
Choice Care PPO
Preferred PPO
Medicare MCR
MultiPlan PPO
PHCS Network PPO
Choice Plus POS
Navigate HMO
Navigate POS
Options PPO

Education

Baylor College of Medicine
New York Presbyterian Hospital
University of Michigan Medical School

Hospital

Texas Children's Hospital

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