Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Sarah T, South"'
Autor:
Kristin G. Monaghan, Edward D. Esplin, Judith Benkendorf, V. Reid Sutton, Michael S. Watson, Devin Oglesbee, Sarah T. South, Michael T. Bashford, Michelle McClure, Caroline Astbury
Publikováno v:
Genetics in Medicine. 22:983-985
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6141fdeee245185c5276f5c6b8ca472e
https://doi.org/10.1038/s41436-020-0765-x
https://doi.org/10.1038/s41436-020-0765-x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::388f33a8f8bdbeecfa12b659e8e76c82
http://europepmc.org/articles/PMC7313390
http://europepmc.org/articles/PMC7313390
Autor:
Sarah T. South, Hyunseok Kang, James T. Lu, Matthew J. Ferber, David P. Bick, Kimberly A. Strong, Elissa Levin, Jill M. Hagenkord
Publikováno v:
The Journal of Molecular Diagnostics. 21:3-12
The increasing quality and diminishing cost of next-generation sequencing has transformed our ability to interrogate large quantities of genetic information. This has led to a dramatic increase in the number of elective genomic tests performed. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b58a77c8a45e4d5c0fffdca212ca302
https://doi.org/10.1016/j.jmoldx.2018.09.006
https://doi.org/10.1016/j.jmoldx.2018.09.006
Autor:
Aparna Prasad, Megan M. Martin, E. Robert Wassman, Rena Vanzo, Sarah T. South, Karen S. Ho, Hope Twede
Publikováno v:
European Journal of Medical Genetics. 62:15-20
Copy number variants (CNV)s involving KANK1 are generally classified as variants of unknown significance. Several clinical case reports suggest that the loss of KANK1 on chromosome 9p24.3 has potential impact on neurodevelopment. These case studies a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e639a5b950594bb1c0725e00ebe3a1
https://doi.org/10.1016/j.ejmg.2018.04.012
https://doi.org/10.1016/j.ejmg.2018.04.012
Publikováno v:
Mol Syndromol
Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a84400e2ba223f510e4a531d8b9dcea
https://europepmc.org/articles/PMC7445548/
https://europepmc.org/articles/PMC7445548/
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)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::681920fbee9da435536363829764d484
https://pubmed.ncbi.nlm.nih.gov/32341574
https://pubmed.ncbi.nlm.nih.gov/32341574
Autor:
Sarah T, South, Michelle, McClure, Caroline, Astbury, Michael T, Bashford, Judith, Benkendorf, Edward D, Esplin, Kristin G, Monaghan, Devin, Oglesbee, V Reid, Sutton, Michael S, Watson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6706054e41cc1c3f85b269caca26a28e
https://pubmed.ncbi.nlm.nih.gov/32127695
https://pubmed.ncbi.nlm.nih.gov/32127695
Autor:
Hutton M. Kearney, Christa Lese Martin, Sarah T. South, Daniel E. Pineda-Alvarez, Deborah I. Ritter, Gordana Raca, Ankita Patel, Erik C. Thorland, Sibel Kantarci, Swaroop Aradhya, Athena M. Cherry, Erin Rooney Riggs, Erica F. Andersen
Publikováno v:
Genetics in Medicine. 23:2230
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9686e58a1556a5c2d33aa31ca28ed1d
https://doi.org/10.1038/s41436-021-01150-9
https://doi.org/10.1038/s41436-021-01150-9
Autor:
Dennis P. O'Malley, Christian N. Paxton, Sarah T. South, Yuri Fedoriw, Sherrie L. Perkins, Deema Alkapalan, Andrew M. Bellizzi, Jason L. Hornick, Erica F. Andersen
Publikováno v:
Modern Pathology. 30:1234-1240
Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5ea6705027f45af419437deb4e2016
https://doi.org/10.1038/modpathol.2017.50
https://doi.org/10.1038/modpathol.2017.50
Autor:
Christian N. Paxton, Gabriel K. Griffin, Sarah T. South, Yuri Fedoriw, Young S. Kim, Jason L. Hornick, Abner Louissaint, Lawrence M. Weiss, Erica F. Andersen, Sherrie L. Perkins, Dennis P. O'Malley
Publikováno v:
Modern Pathology. 30:1321-1334
Follicular dendritic cell sarcoma is a rare malignant neoplasm of dendritic cell origin that is currently poorly characterized by genetic studies. To investigate whether recurrent genomic alterations may underlie the biology of follicular dendritic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfa11e3b1ca2782209e21e98bf155e9
https://doi.org/10.1038/modpathol.2017.34
https://doi.org/10.1038/modpathol.2017.34