Academic Appointments

Honors & Awards

  • Mead Johnson Travel Award, Western Society of Pediatric Research (January, 2013)
  • NIH Clinical Research Loan Repayment Program award, NCI, National Institutes of Health (July 2013)
  • Tashia and John Morgridge Endowed Fellow, Spectrum Child Health Research Institute (CHRI), Stanford University Medical Center (July 2013)

Boards, Advisory Committees, Professional Organizations

  • Member, Editorial Board, Genetic Disorders & Gene Therapy (2013 - Present)
  • Fellow, American College of Medical Genetics and Genomics (2011 - Present)
  • Fellow, American College of Physicians (2008 - Present)
  • Member, American Society of Human Genetics (2000 - Present)
  • Member, American Society of Clinical Oncology (2012 - Present)
  • Member, American Association for the Advancement of Science (2012 - Present)
  • Member, American Association for Cancer Research, Pediatric Cancer Working Group (2008 - Present)

Professional Education

  • Board Certification, American Board of Medical Genetics and Genomics, Clinical Genetics (2013)
  • Fellowship, Stanford University, Medical Genetics (2013)
  • Board Certification, American Board of Internal Medicine, Internal Medicine (2010)
  • Residency, University of Texas Southwestern, Internal Medicine (2008)
  • Doctor of Philosophy, University of Texas Southwestern, Genetics and Development (2005)
  • Doctor of Medicine, University of Texas Southwestern, Medicine (2005)


  • Evans, G. A., Wang, S. S., Esplin, E. D., Li, J. L., Huang, L.. "United States Patent 6,743,906 PPP2R1B is a Tumor Suppressor", The University of Texas Southwestern Medical Center at Dallas, Jun 1, 2004

Research & Scholarship

Current Research and Scholarly Interests

Our goal is to apply genomic and transcriptomic analysis technologies to elucidate the molecular cascade involved in the hereditary colon cancer syndrome, familial adenomatous polyposis (FAP). FAP affects children as young as 7 years of age and contributes to overall colon cancer incidence, which is the third most common cause of cancer related mortality in men and women nationwide. FAP is caused by heterozygous mutations in the adenomatous polyposis coli (APC) gene, both inherited and de novo. The condition is characterized by the development of hundreds of colonic polyps in affected individuals and confers a 100% lifetime risk of colorectal adenocarcinoma. Alterations in the APC gene lead to perturbations in the Wnt signaling cascade, and colon carcinoma from FAP patients show an accumulation of alterations in other genes associated with sporadic colorectal adenocarcinoma (i.e. Kras, p53, etc.), which appear to be initiated from the first APC mutation.

We hypothesize that there is a recurring minimum of accumulated mutations in FAP, starting with a mutation in APC, necessary for development first of benign polyps and later colorectal adenocarcinoma. We will test this using genomic and transcriptomic analyses which, when applied to FAP, present a unique opportunity to simultaneously collect genome wide data at numerous distinct points (represented by each polyp) along the cascade of molecular changes leading to cancer, allowing characterization of the order in which the critical molecular changes occur, enabling identification of novel drivers to malignancy, with the potential to increase understanding of FAP related genetic networks and how they respond to genetic changes and therapeutic perturbations. We seek to better understand the signal pathways responsible for the pathogenesis of FAP and develop improvements in methods of diagnosis and treatment of FAP related colorectal adenocarcinoma with potential application to non-FAP colon adenocarcinoma.


All Publications

  • RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans AMERICAN JOURNAL OF HUMAN GENETICS Shamseldin, H., Alazami, A. M., Manning, M., Hashem, A., Caluseiu, O., Tabarki, B., Esplin, E., Schelley, S., Innes, A. M., Parboosingh, J. S., Lamont, R., Majewski, J., Bernier, F. P., Alkuraya, F. S. 2015; 97 (6): 862-868


    Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive. In a research protocol involving autozygome mapping and exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencing. Two candidate autozygous intervals were identified, and the second round of exome sequencing revealed a single intronic variant therein (c.2885+8A>G [p.Ser963(∗)] in RTTN exon 23). RT-PCR confirmed that this change creates a cryptic splice donor and thus causes retention of the intervening 7 bp of the intron and leads to premature truncation. On the basis of this finding, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype and identified another homozygous change in RTTN as the likely causal mutation. Combined linkage analysis of the two families confirmed that RTTN maps to the only significant linkage peak. Finally, through international collaboration, a Canadian multiplex family affected by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified. Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration.

    View details for DOI 10.1016/j.ajhg.2015.10.012

    View details for Web of Science ID 000368437900008

    View details for PubMedID 26608784

  • 46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly AMERICAN JOURNAL OF MEDICAL GENETICS PART A Esplin, E. D., Chaib, H., Haney, M., Martin, B., Homeyer, M., Urban, A. E., Bernstein, J. A. 2015; 167A (6): 1360-1364
  • Genomic era diagnosis and management of hereditary and sporadic colon cancer. World journal of clinical oncology Esplin, E. D., Snyder, M. P. 2014; 5 (5): 1036-1047


    The morbidity and mortality attributable to heritable and sporadic carcinomas of the colon are substantial and affect children and adults alike. Despite current colonoscopy screening recommendations colorectal adenocarcinoma (CRC) still accounts for almost 140000 cancer cases yearly. Familial adenomatous polyposis (FAP) is a colon cancer predisposition due to alterations in the adenomatous polyposis coli gene, which is mutated in most CRC. Since the beginning of the genomic era next-generation sequencing analyses of CRC continue to improve our understanding of the genetics of tumorigenesis and promise to expand our ability to identify and treat this disease. Advances in genome sequence analysis have facilitated the molecular diagnosis of individuals with FAP, which enables initiation of appropriate monitoring and timely intervention. Genome sequencing also has potential clinical impact for individuals with sporadic forms of CRC, providing means for molecular diagnosis of CRC tumor type, data guiding selection of tumor targeted therapies, and pharmacogenomic profiles specifying patient specific drug tolerances. There is even a potential role for genomic sequencing in surveillance for recurrence, and early detection, of CRC. We review strategies for diagnostic assessment and management of FAP and sporadic CRC in the current genomic era, with emphasis on the current, and potential for future, impact of genome sequencing on the clinical care of these conditions.

    View details for DOI 10.5306/wjco.v5.i5.1036

    View details for PubMedID 25493239

  • Perinatal Features of the RASopathies: Noonan Syndrome, Cardiofaciocutaneous Syndrome and Costello Syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A Myers, A., Bernstein, J. A., Brennan, M., Curry, C., Esplin, E. D., Fisher, J., Homeyer, M., Manning, M. A., Muller, E. A., Niemi, A., Seaver, L. H., Hintz, S. R., Hudgins, L. 2014; 164A (11): 2814-2821
  • Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. American journal of medical genetics. Part A Esplin, E. D., Li, B., Slavotinek, A., Novelli, A., Battaglia, A., Clark, R., Curry, C., Hudgins, L. 2014; 164A (8): 2097-2103


    Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype. © 2014 Wiley Periodicals, Inc.

    View details for DOI 10.1002/ajmg.a.36598

    View details for PubMedID 24800990

  • Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease PHARMACOGENOMICS Esplin, E. D., Oei, L., Snyder, M. P. 2014; 15 (14): 1771-1790

    View details for DOI 10.2217/pgs.14.117

    View details for Web of Science ID 000346180100006

  • Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A Algaze, C., Esplin, E. D., Lowenthal, A., Hudgins, L., Tacy, T. A., Tierney, E. S. 2013; 161A (6): 1386-1389


    We describe a newborn with a phenotype consistent with Adams-Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams-Oliver syndrome. We review other reports of Adams-Oliver syndrome previously described with cardiovascular malformations, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams-Oliver syndrome is suspected in the differential diagnosis. © 2013 Wiley Periodicals, Inc.

    View details for DOI 10.1002/ajmg.a.35864

    View details for Web of Science ID 000320649700021

    View details for PubMedID 23613382

  • The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function Genes, Chromosomes & Cancer Esplin, E. D., Ramos, P., Martinez, B., Tomlinson, G. E., Mumby, M. C., Evans, G. A. 2006; 45 (2): 182-190
  • Identification of a 6-cM minimal deletion at 11q23.1-23.2 and exclusion of PPP2R1B gene as a deletion target in cervical cancer CANCER RESEARCH Pulido, H. A., Fakruddin, M. J., Chatterjee, A., Esplin, E. D., Beleno, N., Martinez, G., Posso, H., Evans, G. A., Murty, V. V. 2000; 60 (23): 6677-6682


    Previous functional and deletion mapping studies on cervical cancer (CC) have implicated one or more tumor suppressor genes (TSGs) on chromosome 11 at q13 and q22-24 regions. Of these, the 11q22-24 region exhibits frequent allelic deletions in a variety of solid tumor types, suggesting the presence of critical genes for tumor suppression in this region. However, the precise region of deletion on 11q is not clearly defined in CC. In an attempt to accurately map the deleted region, we performed an extensive loss of heterozygosity (LOH) mapping in 58 tumors using 25 polymorphic loci on both the short and long arms. The pattern of LOH identified three sites of deletions, two on 11p (p15.11-p15.3 and p12-13), and one on 11q (q23.1-q23.2). The 11q23.1-q23.2 exhibited highest frequency (60.6%) of deletions, suggesting that this could be the site of a candidate TSG in CC. The minimal deletion at 11q23.1-23.2 was restricted to a 6-cM region between 123.5 and 129.5 cM genetic distance on chromosome 11, identifying the site of a potential TSG important in the pathogenesis of CC. At least five known genes and 28 UniGene clusters were mapped to the present commonly deleted region. In addition, we have excluded a previously known TSG PPP2R1B at 11q23 as a deletion target in CC. The definition of the minimal deletion and the availability of expressed sequence resources should facilitate the identification of the candidate TSG.

    View details for Web of Science ID 000165638700022

    View details for PubMedID 11118052

  • Alterations of the PPP2R1B gene in human lung and colon cancer SCIENCE Wang, S. S., Esplin, E. D., Li, J. L., Huang, L. Y., Gazdar, A., Minna, J., Evans, G. A. 1998; 282 (5387): 284-287


    The PPP2R1B gene, which encodes the beta isoform of the A subunit of the serine/threonine protein phosphatase 2A (PP2A), was identified as a putative human tumor suppressor gene. Sequencing of the PPP2R1B gene, located on human chromosome 11q22-24, revealed somatic alterations in 15% (5 out of 33) of primary lung tumors, 6% (4 out of 70) of lung tumor-derived cell lines, and 15% (2 out of 13) of primary colon tumors. One deletion mutation generated a truncated PP2A-Abeta protein that was unable to bind to the catalytic subunit of the PP2A holoenzyme. The PP2R1B gene product may suppress tumor development through its role in cell cycle regulation and cellular growth control.

    View details for Web of Science ID 000076370200045

    View details for PubMedID 9765152