Alumni Profiles

Anna Armitage
Mentor: W. Scott
Capstone: Administration of Self-Assessment Survey for the Efficacy and Utility of Genomic Medicine Education in Clinical Practice and Identification of Areas for Improvement in the MSGM

Michelle Bartlett
Mentor: I. Forghani
Capstone: Novel Deleterious ACBD5 Variant Associated with Optic Atrophy, White Matter Disease, and Psychomotor Regression: Case Report and Literature Review

Parker Bussies
Mentors: J. Vance, M. Pericak-Vance
Capstone: Use of single-nucleus RNA-sequencing to distinguish transcriptomic differences in LOAD vs. Control frontal cortex carrying African and European ApoE4 local genetic ancestry. (Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease). Published in Neurology: Genetics. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164968/

Madison Calder
Mentors: K. Latchman, M. Tekin
Capstone: Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: case report of siblings and an affected parent. Published in the American Journal of Medical Genetics. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61446

Alejandro Hermida
Mentors: M. Tekin, G. Bademci
Capstone: Using Whole Genome Sequencing to Identify Novel Variants in Branchio-Oto-Renal Syndrome

Amy Kloosterboer
Mentors: A. Griswold, J. Vance
Capstone: Identification of Novel Potentially Pathogenic Variants in a Family with Kufs Disease by Whole Genome Sequencing

Quynh Pham
Mentors: M. Tekin, G. Bademci
Capstone: Using Whole Genome Sequencing to Identify Novel Variants in Branchio-Oto-Renal Syndrome

Sophia Raia
Mentor: W. Scott
Capstone: Administration of Self-Assessment Survey for the Efficacy and Utility of Genomic Medicine Education in Clinical Practice and Identification of Areas for Improvement in the MSGM

Manoj Chakiath
Mentor: W. Scott
Capstone: Self-Assessment Survey for the Efficacy and Utility of Genomic Medicine Education in Clinical Practice

Brett Doliner
Mentors: T. Rundek, S. Blanton
Capstone: An Extreme Phenotype Approach Identifies Novel Genes Associated with Carotid Plaque in a Multi-ethnic Cohort.
Apolipoprotein E Gene Polymorphism and Subclinical Carotid Atherosclerosis: The Northern Manhattan Study. Published in the Journal of Stroke and Cerebrovascular Disorders. https://www.sciencedirect.com/science/article/pii/S1052305717305372?via=ihub

Eric Gibbs
Mentor: R. Ramasamy
Capstone: The Genetics of Male Infertility
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers with Spermatogenic Failure. Published in Urology. https://www.sciencedirect.com/science/article/pii/S0090429518306228?via=ihub

Wenxin Liu
Mentor: M. Tekin
Capstone: Genetic Causes of Sensorineural Hearing Loss Associated with Inner Ear Anomalies

Megan McSherry
Mentor: M. Tekin
Capstone: Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. Published in PLoS One. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208324

Saradadevi Thanikachalam
Mentor: M. Tekin
Capstone: Genetic Analysis of Anterior Segment Dysgenesis Identifies Novel Pathogenic Variants. (Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida). Published in Genes (Basel). https://www.mdpi.com/2073-4425/11/4/350

Ahmed Valdes
Mentor: W. Scott
Capstone: Self-Assessment Survey for the Efficacy and Utility of Genomic Medicine Education in Clinical Practice

Laura Bloom
Mentors:  M. Tekin, G. Bademci
Capstone:  Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): Review of the Literature and Identification of a Novel Variant in ACTG2

Sara Bressler
Mentor:  X. Liu
Capstone:  Cost-effectiveness of a sequential screening strategy for identifying non-syndromic deafness causative mutations in an ethnically diverse population

Emily Grass
Mentor:  S. Blanton
Capstone:  Current and Future Role of Pharmacogenomics in Emergency Medicine

Christopher Greenland
Mentor:  A. Griswold
Capstone:  Diagnosis of infectious disease: A review of current technology and prospects for use in an Emergency Department setting

Joaquin Jimenez Garcia
Mentor:  X. Liu
Capstone:  Diagnostic and therapeutic applications of genomic medicine in progressive, nonsyndromic sensorineural hearing loss

Kyle Klingbeil
Mentor:  M. Tekin
Capstone:  Novel EYA1 variants causing Branchio-oto-renal syndrome. Published in the International Journal of Pediatric Otorhinolaryngology. https://www.sciencedirect.com/science/article/pii/S0165587617301787?via=ihub

Zachary Kroeger
Mentor:  M. Tekin
Capstone:  A Missense MECOM Variant in Radio-Ulnar Synostosis and Amegakaryocytic Thrombocytopenia (A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia) Published in Clinical Dysmorphology. https://journals.lww.com/clindysmorphol/Fulltext/2018/01000/A_MECOM_variant_in_an_African_American_child_with.4.aspx

Steven Lord
Mentor:  M. Tekin
Capstone:  Further evidence for PPP1CB as the causal gene in a Noonan-Like Syndrome

Matthew Bryce McClure
Mentor:  M. Tekin
Capstone:  Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.  Published in the Journal of Pediatric Genetics.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423827/

Melissa McCormack
Mentor: N. Bishopric
Capstone:  Calcific Aortic Stenosis: Current advances in our genomic understanding of a common disease

Cory Patrick
Mentor:  M. Tekin
Capstone:  Further evidence for PPP1CB as the causal gene in a Noonan-Like Syndrome

William Peter Sawyer
Mentor:  M. Abreu
Capstone:  Inflammation Associated RNA Expression in CD11b+ Phagocytes in Patients with Inflammatory Bowel Disease

Hannah Shlansky
Mentor:  M. Cuccaro
Capstone:  The CNV Landscape of Autism Spectrum Disorder in African Americans

Samantha Abel
Mentor:  M. Tekin
Capstone:  Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.  Published in the Journal of Pediatric Genetics. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423827/

Samuel Cohen
Mentor:  R. Ramasamy
Capstone:  The Genetics of Male Infertility
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers with Spermatogenic Failure.  Published in Urology. https://www.sciencedirect.com/science/article/pii/S0090429518306228?via=ihub

Gabrielle Fisher
Mentor:  S. Blanton
Capstone:  Incidental Findings and the Pediatric Population

Ruslan Garcia
Mentors:  M. Tekin, G. Bademci
Capstone:  Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): Review of the Literature and Identification of a Novel Variant in ACTG2

Clark Murray
Mentor:  M. Tekin
Capstone:  Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.  Published in the Journal of Pediatric Genetics. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423827/

Madhuri Nagaraj
Mentors:  M. Tekin, G. Bademci
Capstone:  Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): Review of the Literature and Identification of a Novel Variant in ACTG2

Erin Ong
Mentor:  W. Harbour
Capstone:  Driver Mutations in Uveal Melanoma
(Driver Mutations in Uveal Melanoma: Associations with Gene Expression Profile and Patient Outcomes) Published in JAMA Ophthalmology. https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2514081

Marie Sharpe
Mentor:  K. Nuytemans
Capstone:  Comprehensive clinical chart review of thrombotic storm patients aimed at identifying additional shared characteristics in phenotype-genotype correlation analyses

Allison Silverstein
Mentors:  J. Vance, A. Costas-Chavarri (Harvard/Rwanda)
Capstone:  Review Article: Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine.  Published in the International Journal of Breast Cancer. https://www.hindawi.com/journals/ijbc/2016/4792865/

Jesse Bertrand
Capstone:  The State of Genomic Medicine in the Field of Preventive Cardiology

Tara Brah
Capstone:  Contralateral Breast Cancer:  A Review of the South Florida Population and Developments in Genomic Medicine

Nisha Garg
Capstone:  Driver Mutations in Uveal Melanoma: Associations with Gene Expression Profile and Patient Outcomes 
Published in JAMA Ophthalmology. https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2514081

Ann Kurian
Capstone:  A Review of Current Literature on Hereditary Breast Cancer