Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Erica F, Andersen"'
Autor:
Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
Publikováno v:
Genetics in Medicine. 24:255-261
Autor:
Alma Kuechler, Amanda Openshaw, Stephen P. Robertson, Siddharth Srivastava, Bo Hong, Leah R Fleming, Cheryl Dickerson, Lindsay C. Swanson, Kathryn Curry, Rami A. Ballout, Najla Al-Sweel, Myra J. Wick, Nuria C. Bramswig, Ayman W. El-Hattab, Erica F. Andersen
Publikováno v:
Hum Mutat
Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary man
Autor:
Heidi L. Rehm, Molly Good, Courtney Thaxton, Erik C. Thorland, Xi Luo, Erin Rooney Riggs, Christa Lese Martin, Erica F. Andersen, Jonathan S. Berg, Marina T. DiStefano
Publikováno v:
Human mutation. 43(8)
Understanding whether there is enough evidence to implicate a gene's role in a given disease, as well as the mechanisms by which variants in this gene might cause this disease, are essential in order to determine clinical relevance. The National Inst
Autor:
Øyvind L. Busk, Kimberley Bradbury, Arjan Bouman, Philippe M. Campeau, Lynne M. Bird, Cornelia Kraus, Colleen Carlston, Rong Mao, Juliette Piard, Laurence Faivre, Amanda Openshaw, Catherine Ward Melver, Mohnish Suri, Christiane Zweier, François Guillemot, Rolph Pfundt, Janice C. Palumbos, Parthiv Haldipur, Jane A. Hurst, Kimberly McDonald, Margaux Serey-Gaut, Luitgard Graul-Neumann, Karen J. Low, Jenny Carmichael, Patrick Ferrerira, Birgit Elisabeth Kristiansen, Ange-Line Bruel, Constance Motter, Andrea Accogli, Darrah N. Haffner, Suhair Hanna, Ruta Marcinkute, Angela Peron, Marcella Zollino, Sofia Maia, James Lespinasse, Claire E. Turner, Sally Ann Lynch, Richard E. Person, Valeria Capra, Kimberly A. Aldinger, Constance Smith-Hicks, Gyri Aasland Gradek, Ingrid M. Wentzensen, Megha Desai, Manuela Morleo, Aditi Shah Parikh, Marcello Scala, Cristina Dias, Gunnar Houge, Telethon Undiagnosed Disease Program, Anne Slavotinek, Roberta Battini, Mary J. Green, Anna Chassevent, Tara Montgomery, David Viskochil, Tatiana Tvrdik, Dawn L. Earl, Karin Weiss, Felice D'Arco, William B. Dobyns, Ping Yee Billie Au, Daniah Beleford, Erica F. Andersen, Bert B.A. de Vries, Jill Clayton-Smith, Christophe Philippe, Michael J. Bamshad
PurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c55e8461adabd1f64e5851c2ad0e0c90
https://doi.org/10.1101/2021.09.06.21262776
https://doi.org/10.1101/2021.09.06.21262776
Autor:
Athena M. Cherry, Hutton M. Kearney, Swaroop Aradhya, Erica F. Andersen, Gordana Raca, Sibel Kantarci, Erik C. Thorland, Deborah I. Ritter, Sarah T. South, Erin Rooney Riggs, Ankita Patel, Christa Lese Martin, Daniel E. Pineda-Alvarez
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormal
Autor:
Prabakaran Paulraj, Allen N. Lamb, Garrett Gotway, Maria Longhurst, Michelle Bosworth, Callie Hornbuckle, Erica F. Andersen
Publikováno v:
Cytogenetic and Genome Research. 159:19-25
The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investi
Autor:
Lorenzo Cerroni, Christian N. Paxton, Andrea P. Moy, Alexander Wenzel, Bo Hong, David M. Weinstock, Joan Guitart, Maria Estela Martinez-Escala, Jaehyuk Choi, Damiano Fantini, Kristen E. Stevenson, Erica F. Andersen, Jingyi Yang, Shannon K. Harkins, Haley K. Martin, Abner Louissaint, Kimberly G. Ringbloom, Elizabeth A. Morgan, Xiaolong Alan Zhou
Publikováno v:
Blood Adv
Primary cutaneous follicle center lymphomas (PCFCLs) are indolent B-cell lymphomas that predominantly remain skin restricted and manageable with skin-directed therapy. Conversely, secondary cutaneous involvement by usual systemic follicular lymphoma
Autor:
Erin Rooney, Riggs, Erica F, Andersen, Sibel, Kantarci, Hutton, Kearney, Ankita, Patel, Gordana, Raca, Deborah I, Ritter, Sarah T, South, Erik C, Thorland, Daniel, Pineda-Alvarez, Swaroop, Aradhya, Christa Lese, Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(7)
Publikováno v:
American Journal of Clinical Pathology. 156:715-716
Autor:
Christa Lese Martin, Erica F. Andersen, Molly Good, Erin Rooney Riggs, Jian Zhao, Adam Clayton
Publikováno v:
Molecular Genetics and Metabolism. 132:S228-S229