Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2
Xiao, Changrui, Astiazaran‐Symonds, Esteban, Basu, Shrabani, Kisling, Monisha, Scaglia, Fernando, Chapman, Kimberly A., Wang, Yudong, Vockley, Jerry, Ferreira, Carlos R.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
Get full text
Journal Article
Fabry Disease: An Uncommon Cause of Renal Failure
López, Persio David, MD, Andreias, Laura, MD, Astiazarán-Symonds, Esteban, MD, Chalabi, Jumana, MD
Published in The American journal of medicine (01.09.2017)
Published in The American journal of medicine (01.09.2017)
Get full text
Journal Article
Cancer in Costello syndrome: a systematic review and meta-analysis
Astiazaran-Symonds, Esteban, Ney, Gina M., Higgs, Cecilia, Oba, Leatrisse, Srivastava, Radhika, Livinski, Alicia A., Rosenberg, Philip S., Stewart, Douglas R.
Published in British journal of cancer (15.06.2023)
Published in British journal of cancer (15.06.2023)
Get full text
Journal Article
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Hanson, Helen, Astiazaran-Symonds, Esteban, Amendola, Laura M., Balmaña, Judith, Foulkes, William D., James, Paul, Klugman, Susan, Ngeow, Joanne, Schmutzler, Rita, Voian, Nicoleta, Wick, Myra J., Pal, Tuya, Tischkowitz, Marc, Stewart, Douglas R.
Published in Genetics in medicine (01.10.2023)
Published in Genetics in medicine (01.10.2023)
Get full text
Journal Article
ACMG PRACTICE RESOURCE: Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Hanson, Helen, Astiazaran-Symonds, Esteban, Amendola, Laura M., Balmaña, Judith, Foulkes, William D., James, Paul, Klugman, Susan, Ngeow, Joanne, Schmutzler, Rita, Voian, Nicoleta, Wick, Myra J., Pal, Tuya, Tischkowitz, Marc, Stewart, Douglas R.
Published in Genetics in medicine (25.07.2023)
Published in Genetics in medicine (25.07.2023)
Get full text
Journal Article
Response to Stern
Hanson, Helen, Astiazaran-Symonds, Esteban, Amendola, Laura M., Balmaña, Judith, Foulkes, William D., James, Paul, Klugman, Susan, Ngeow, Joanne, Schmutzler, Rita, Voian, Nicoleta, Wick, Myra J., Pal, Tuya, Tischkowitz, Marc, Stewart, Douglas R.
Published in Genetics in medicine (01.02.2024)
Published in Genetics in medicine (01.02.2024)
Get full text
Journal Article
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes
Astiazaran-Symonds, Esteban, Kim, Jung, Haley, Jeremy S, Kim, Sun Young, Rao, H Shanker, Genetics Center, Regeneron, Carey, David J, Stewart, Douglas R, Goldstein, Alisa M
Published in Cancers (02.07.2022)
Published in Cancers (02.07.2022)
Get full text
Journal Article
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome
Sargen, Michael R, Kim, Jung, Potjer, Thomas P, Velthuizen, Mary E, Martir-Negron, Arelis E, Odia, Yazmin, Helgadottir, Hildur, Hatton, Jessica N, Haley, Jeremy S, Thone, Gretchen, Widemann, Brigitte C, Gross, Andrea M, Yohe, Marielle E, Kaplan, Rosandra N, Shern, Jack F, Sundby, R Taylor, Astiazaran-Symonds, Esteban, Yang, Xiaohong R, Carey, David J, Tucker, Margaret A, Stewart, Douglas R, Goldstein, Alisa M
Published in JAMA dermatology (Chicago, Ill.) (01.10.2023)
Published in JAMA dermatology (Chicago, Ill.) (01.10.2023)
Get more information
Journal Article
Response to Stern
Hanson, Helen, Astiazaran-Symonds, Esteban, Amendola, Laura M, Balmaña, Judith, Foulkes, William D, James, Paul, Klugman, Susan, Ngeow, Joanne, Schmutzler, Rita, Voian, Nicoleta, Wick, Myra J, Pal, Tuya, Tischkowitz, Marc, Stewart, Douglas R
Published in Genetics in medicine (27.12.2023)
Get full text
Published in Genetics in medicine (27.12.2023)
Journal Article
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series
Goldstein, Alisa M., Qin, Richard, Chu, Emily Y., Elder, David E., Massi, Daniela, Adams, David J., Harms, Paul W., Robles-Espinoza, Carla Daniela, Newton-Bishop, Julia A., Bishop, D. Timothy, Harland, Mark, Holland, Elizabeth A., Cust, Anne E., Schmid, Helen, Mann, Graham J., Puig, Susana, Potrony, Miriam, Alos, Llucia, Nagore, Eduardo, Millán-Esteban, David, Hayward, Nicholas K., Broit, Natasa, Palmer, Jane M., Nathan, Vaishnavi, Berry, Elizabeth G., Astiazaran-Symonds, Esteban, Yang, Xiaohong R., Tucker, Margaret A., Landi, Maria Teresa, Pfeiffer, Ruth M., Sargen, Michael R.
Published in JAAD international (01.06.2023)
Published in JAAD international (01.06.2023)
Get full text
Journal Article
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case seriesCapsule Summary
Alisa M. Goldstein, PhD, Richard Qin, BS, Emily Y. Chu, MD, PhD, David E. Elder, MBChB, Daniela Massi, MD, PhD, David J. Adams, PhD, Paul W. Harms, MD, PhD, Carla Daniela Robles-Espinoza, PhD, Julia A. Newton-Bishop, MD, PhD, D. Timothy Bishop, PhD, Mark Harland, PhD, Elizabeth A. Holland, BSc, Anne E. Cust, PhD, Helen Schmid, MPH, Graham J. Mann, MBBS, PhD, Susana Puig, MD, PhD, Miriam Potrony, PhD, Llucia Alos, MD, PhD, Eduardo Nagore, MD, PhD, David Millán-Esteban, PhD, Nicholas K. Hayward, PhD, Natasa Broit, PhD, Jane M. Palmer, RN, Vaishnavi Nathan, PhD, Elizabeth G. Berry, MD, Esteban Astiazaran-Symonds, MD, Xiaohong R. Yang, PhD, Margaret A. Tucker, MD, Maria Teresa Landi, MD, PhD, Ruth M. Pfeiffer, PhD, Michael R. Sargen, MD
Published in JAAD international (01.06.2023)
Get full text
Published in JAAD international (01.06.2023)
Journal Article
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer
Astiazaran-Symonds, Esteban, Graham, Cole, Kim, Jung, Tucker, Margaret A, Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Sampson, Joshua N, Zhu, Bin, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Sciallero, Stefania, Carter, Brian, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Stewart, Douglas R, Chanock, Stephen J, Freedman, Neal D, Landi, Maria Teresa, Höiom, Veronica, Puig, Susana, Gruis, Nelleke, Yang, Xiaohong R, Ghiorzo, Paola, Goldstein, Alisa M
Published in JCO precision oncology (01.01.2022)
Published in JCO precision oncology (01.01.2022)
Get more information
Journal Article
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2
Xiao, Changrui, Astiazaran-Symonds, Esteban, Basu, Shrabani, Kisling, Monisha, Scaglia, Fernando, Chapman, Kimberly A, Wang, Yudong, Vockley, Jerry, Ferreira, Carlos R
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
Get full text
Report