Výsledky vyhledávání

Akademický článek

A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach

Autor: Namrata Setia, Daniela delGaudio, Priscilla Kandikatla, Kelly Arndt, Melissa Tjota, Peng Wang, Jeremy Segal, Mir Alikhan, John Hart

Publikováno v: The Journal of Pathology: Clinical Research, Vol 10, Iss 1, Pp n/a-n/a (2024)

Abstract A whole exome sequencing (WES)‐driven approach to uncover the etiology of unexplained inflammatory gastritides has been underutilized by surgical pathologists. Here, we discovered the pathobiology of an unusual chronic atrophic gastritis i

Externí odkaz: https://doaj.org/article/dc744fe0cfff41f181cfcc1fb4492a2e

Zobrazit plný text záznamu

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants

Autor: Maria Helgeson, Hari Prasanna Subramanian, Alexander F. Gileta, Louise C. Pyle, Colin P. Hawkes, Kelly Arndt, Jacqueline Leonard, Daniela del Gaudio

Publikováno v: Am J Med Genet A

The semaphorin protein family is a diverse set of extracellular signaling proteins that perform fundamental roles in the development and operation of numerous biological systems, notably the nervous, musculoskeletal, cardiovascular, endocrine, and re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e8da37aa74778b0c960be864b82707
https://doi.org/10.1002/ajmg.a.62023

Zobrazit plný text záznamu

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

Autor: Lia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, Kelly Arndt, Nathaniel Phillips, Pankhuri Wanjari, Hari Prasanna Subramanian, David Montes, James McElherne, Megan Theissen, Renee Briese, Soma Das, Lucy A. Godley, Jeremy Segal, Daniela del Gaudio, Carrie Fitzpatrick, Jane E. Churpek

Publikováno v: Human mutation. 43(7)

To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a ret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8b54613a3b8782046476304fbed562
https://pubmed.ncbi.nlm.nih.gov/35419889

Zobrazit plný text záznamu

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Autor: Zejuan Li, Erin Sandford, Viswateja Nelakuditi, Miao Sun, Kym M. Boycott, Jodi Warman Chardon, Lan Ma, Daniela del Gaudio, Vikram G. Shakkottai, Kelly Arndt, Soma Das, David Fischer, Darrel Waggoner, Lucia Guidugli, Margit Burmeister, Christopher M. Gomez, Amy K. Johnson

Publikováno v: Genetics in Medicine. 21:195-206

To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes. One hundred and seventy patients with ataxia of unknown etiology referred from clinics throughout th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3b5fc74bf779410d4f1aa00016923d9
https://doi.org/10.1038/s41436-018-0007-7

Zobrazit plný text záznamu

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

Autor: Mark A. Atkinson, Ying Ying Hu, Desmond A. Schatz, Martha Campbell-Thompson, Kelly Arndt, Daniela del Gaudio, Gorka Alkorta-Aranburu, Siri Atma W. Greeley, Irina Kusmartseva, Frances Kobiernicki, May Sanyoura, David Carmody, Louis H. Philipson, Laura M. Jacobsen

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 103:35-45

Context Monogenic diabetes is thought to account for 2% of all diabetes cases, but most patients receive misdiagnoses of type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreata from patients with monogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6b6968aa94fc04fb1184739c6fdff41
https://doi.org/10.1210/jc.2017-01159

Zobrazit plný text záznamu

Assessing the Feasibility and Limitations of Cultured Skin Fibroblasts for Germline Genetic Testing in Hematologic Disorders

Autor: Soma Das, Pankhuri Wanjari, Hari Prasanna Subramanian, Lia DeRoin, Carrie Fitzpatrick, Daniela del Gaudio, Jeremy P. Segal, Jane E. Churpek, Marcela Cavalcante de Andrade Silva, Kelly Arndt, Lucy A. Godley, Nathaniel Phillips, David Montes, Kristin Petras

Publikováno v: Blood. 136:35-36

Introduction Peripheral blood is the standard tissue source for germline genetic testing in most scenarios. In patients with hematologic malignancies, however, peripheral blood frequently contains tumor- or clonal hematopoiesis-related acquired genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6b3ae40001072fd2f9d5d9275f1d006d
https://doi.org/10.1182/blood-2020-138431

Zobrazit plný text záznamu

Assessment of FcgRIIIA single nucleotide polymorphisms (SNPs) on the efficacy of IgG1 monoclonal antibodies (mAbs) in PANGEA study patients (pts) with advanced gastroesophageal adenocarcinoma (aGEA)

Autor: Anthony Serritella, Daniela del Gaudio, Ping Liu, Bryan Peterson, Nicole Arndt, Katherine I. Zhou, Kelly Arndt, Samuel J. Klempner, Soma Das, Daniel V.T. Catenacci

Publikováno v: Journal of Clinical Oncology. 38:4526-4526

4526 Background: Targeted therapies (Ttx) have had limited efficacy in aGEA. The phase IIa PANGEA trial assessed the outcomes of pts treated with IgG1 mAbs targeting receptor tyrosine kinases (RTKs) or PD-1 based on predefined molecular groups. The f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2fdd2e4628f8053fe717b6f9a0aec8f
https://doi.org/10.1200/jco.2020.38.15_suppl.4526

Zobrazit plný text záznamu

Compound heterozygoteCDK5RAP2mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

Autor: Elliott Mark Weiss, Karuna Shekdar, Kriti Gwal, Soma Das, Elaine H. Zackai, Mindy H. Li, Yaning Wu, Kelly Arndt

Publikováno v: American Journal of Medical Genetics Part A. 167:1414-1417

Keywords: autosomal recessive primary microcephaly (MCPH); CDK5RAP2; microcephaly; developmental delay; speech delay; failure to thrive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba18b47090ce4c39fec732db65cda63b
https://doi.org/10.1002/ajmg.a.36975

Zobrazit plný text záznamu

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis

Autor: N. Meeks, Soma Das, Kelly Arndt, S. Sastry, Viswateja Nelakuditi, Daniela del Gaudio, Christopher A. Tan, L. Brady, R. Shaw, Małgorzata J.M. Nowaczyk, Frances Kobiernicki, Scott Topper, L. Russell, O. Shchelochkov, Susan Zeesman

Publikováno v: Clinical Genetics. 89:478-483

Genetic testing for non-specific intellectual disability (ID) presents challenges in daily clinical practice. Historically, the focus of the genetic elucidation of non-specific ID has been on genes on the X chromosome, and recent research has brought

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9005adee984e2c9abdc9cbf1bc9029ec
https://doi.org/10.1111/cge.12575

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání