Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Model organisms facilitate rare disease diagnosis and therapeutic research
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …
involve the use of next-generation sequencing and comparative genomic hybridization …
[HTML][HTML] Resolution of disease phenotypes resulting from multilocus genomic variation
Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …
observed clinical phenotypes and underlying genotypes. Methods We conducted a …
Genome sequencing and implications for rare disorders
JE Posey - Orphanet journal of rare diseases, 2019 - Springer
The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …
to realize this goal will require discovery of the relationship between rare variation at each of …
Daily oral everolimus activity in patients with metastatic pancreatic neuroendocrine tumors after failure of cytotoxic chemotherapy: a phase II trial
JC Yao, C Lombard-Bohas, E Baudin… - Journal of clinical …, 2010 - ascopubs.org
Purpose No established treatment exists for pancreatic neuroendocrine tumor (NET)
progression after failure of chemotherapy. Everolimus (RAD001), an oral inhibitor of …
progression after failure of chemotherapy. Everolimus (RAD001), an oral inhibitor of …
Activity of sunitinib in patients with advanced neuroendocrine tumors
Purpose Standard cytotoxic chemotherapy has limited efficacy in metastatic neuroendocrine
tumor patients. Neuroendocrine tumors express vascular endothelial growth factor (VEGF) …
tumor patients. Neuroendocrine tumors express vascular endothelial growth factor (VEGF) …
Gastric cancer, version 2.2013
JA Ajani, DJ Bentrem, S Besh, TA D'Amico… - Journal of the national …, 2013 - jnccn.org
The NCCN Clinical Practice Guidelines in Oncology for Gastric Cancer provide evidence-
and consensus-based recommendations for a multidisciplinary approach for the …
and consensus-based recommendations for a multidisciplinary approach for the …
NCCN clinical practice guidelines in oncology: hepatobiliary cancers.
AB Benson 3rd, TA Abrams, E Ben-Josef… - Journal of the …, 2009 - europepmc.org
Hepatobiliary cancers are highly lethal. In 2008, approximately 21,370 persons in the United
States were estimated to be diagnosed with liver or intrahepatic bile duct cancer and 9520 …
States were estimated to be diagnosed with liver or intrahepatic bile duct cancer and 9520 …
Lack of a role for iron in the Lyme disease pathogen
JE Posey, FC Gherardini - Science, 2000 - science.org
A fundamental tenet of microbial pathogenesis is that bacterial pathogens must overcome
host iron limitation to establish a successful infection. Surprisingly, the Lyme disease …
host iron limitation to establish a successful infection. Surprisingly, the Lyme disease …
Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis
M. tuberculosis is evolving antibiotic resistance, threatening attempts at tuberculosis
epidemic control. Mechanisms of resistance, including genetic changes favored by selection …
epidemic control. Mechanisms of resistance, including genetic changes favored by selection …