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Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.
Published in:
Virchows Archiv: European Journal of Pathology, 2023, v. 483, n. 2, p. 237, doi. 10.1007/s00428-023-03605-7
By:
- Fritchie, Karen J.;
- Dermawan, Josephine K.;
- Astbury, Caroline;
- Sharma, Anurag;
- Bakhshwin, Ahmed;
- Fuller, Lanisha;
- Agrawal, Shruti;
- Wieland, Carilyn N.;
- Greipp, Patricia T.;
- Azzato, Elizabeth M.;
- Folpe, Andrew L.;
- Billings, Steven D.
Publication type:
Article
Combined utility of p16 and BRAF V600E in the evaluation of spitzoid tumors: Superiority to PRAME and correlation with FISH.
Published in:
Journal of Cutaneous Pathology, 2023, v. 50, n. 2, p. 155, doi. 10.1111/cup.14342
By:
- McAfee, John L.;
- Scarborough, Richard;
- Jia, Xuefei Sophia;
- Azzato, Elizabeth M.;
- Astbury, Caroline;
- Ronen, Shira;
- Andea, Aleodor A.;
- Billings, Steven D.;
- Ko, Jennifer S.
Publication type:
Article
EWSR1‐SMAD3 rearranged fibroblastic tumor: Case series and review.
Published in:
Journal of Cutaneous Pathology, 2021, v. 48, n. 2, p. 255, doi. 10.1111/cup.13870
By:
- Habeeb, Omar;
- Korty, Katelen E.;
- Azzato, Elizabeth M.;
- Astbury, Caroline;
- Farkas, Daniel H.;
- Ko, Jennifer S.;
- Billings, Steven D.
Publication type:
Article
Safety Profile of Good Manufacturing Practice Manufactured Interferon γ-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials.
Published in:
Stem Cells Translational Medicine, 2017, v. 6, n. 10, p. 1868, doi. 10.1002/sctm.16-0485
By:
- Guess, Adam J.;
- Daneault, Beth;
- Wang, Rongzhang;
- Bradbury, Hillary;
- La Perle, Krista M. D.;
- Fitch, James;
- Hedrick, Sheri L.;
- Hamelberg, Elizabeth;
- Astbury, Caroline;
- White, Peter;
- Overolt, Kathleen;
- Rangarajan, Hemalatha;
- Abu-Arja, Rolla;
- Devine, Steven M.;
- Otsuru, Satoru;
- Dominici, Massimo;
- O'Donnell, Lynn;
- Horwitz, Edwin M.
Publication type:
Article
Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”.
Published in:
Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/4361630
By:
- Riley, Jacquelyn D.;
- Stefaniuk, Catherine M.;
- Erenberg, Francine;
- Erwin, Angelika L.;
- Palange, Lauren;
- Astbury, Caroline
Publication type:
Article
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.
Published in:
Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/5384295
By:
- Riley, Jacquelyn D.;
- Stefaniuk, Catherine M.;
- Erenberg, Francine;
- Erwin, Angelika L.;
- Palange, Lauren;
- Astbury, Caroline
Publication type:
Article
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1056, doi. 10.1002/ajmg.a.38098
By:
- Kekis, Mariana;
- Deeg, Carol;
- Hashimoto, Sayaka;
- McKinney, Aimee;
- Erdman, Linda;
- Green‐Geer, Cecelia;
- Shuss, Christine;
- Hickey, Scott;
- Astbury, Caroline;
- Pyatt, Robert E.
Publication type:
Article
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2925, doi. 10.1002/ajmg.a.35610
By:
- Alyaqoub, Fadel;
- Pyatt, Robert E.;
- Bailes, Andrea;
- Brock, Amanda;
- Deeg, Carol;
- McKinney, Aimee;
- Astbury, Caroline;
- Reshmi, Shalini;
- Shane, Kate P.;
- Thrush, Devon Lamb;
- Sommer, Annemarie;
- Gastier-Foster, Julie M.
Publication type:
Article
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1924, doi. 10.1002/ajmg.a.35477
By:
- Repnikova, Elena A.;
- Astbury, Caroline;
- Reshmi, Shalini C.;
- Ramsey, Sarah N.;
- Atkin, Joan F.;
- Thrush, Devon Lamb;
- Mitchell, Anna L.;
- Pyatt, Robert E.;
- Reber, Kristina;
- Slavin, Thomas;
- Gastier-Foster, Julie M.
Publication type:
Article
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.
Published in:
Muscle & Nerve, 2013, v. 47, n. 5, p. 731, doi. 10.1002/mus.23669
By:
- Rosales, Xiomara Q.;
- Malik, Vinod;
- Sneh, Amita;
- Chen, Lei;
- Lewis, Sarah;
- Kota, Janaiah;
- Gastier‐Foster, Julie M.;
- Astbury, Caroline;
- Pyatt, Rob;
- Reshmi, Shalini;
- Rodino‐Klapac, Louise R.;
- Clark, K. Reed;
- Mendell, Jerry R.;
- Sahenk, Zarife
Publication type:
Article
Novel diagnostic features of dysferlinopathies.
Published in:
Muscle & Nerve, 2010, v. 42, n. 1, p. 14, doi. 10.1002/mus.21650
By:
- Rosales, Xiomara Q.;
- Gastier-Foster, Julie M.;
- Lewis, Sarah;
- Vinod, Malik;
- Thrush, Devon L.;
- Astbury, Caroline;
- Pyatt, Robert;
- Reshmi, Shalini;
- Sahenk, Zarife;
- Mendell, Jerry R.
Publication type:
Article
Delineation of complex chromosomal rearrangements: evidence for increased complexity.
Published in:
Human Genetics, 2004, v. 114, n. 5, p. 448, doi. 10.1007/s00439-003-1079-1
By:
- Astbury, Caroline;
- Christ, Laurie A.;
- Aughton, David J.;
- Cassidy, Suzanne B.;
- Fujimoto, Atsuko;
- Pletcher, Beth A.;
- Schafer, Irwin A.;
- Schwartz, Stuart
Publication type:
Article
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA<sub>A</sub> receptor subunit gene cluster.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 105, doi. 10.1038/ejhg.2013.99
By:
- Polan, Michelle B;
- Pastore, Matthew T;
- Steingass, Katherine;
- Hashimoto, Sayaka;
- Thrush, Devon L;
- Pyatt, Robert;
- Reshmi, Shalini;
- Gastier-Foster, Julie M;
- Astbury, Caroline;
- McBride, Kim L
Publication type:
Article
Clinical exome sequencing reports: current informatics practice and future opportunities.
Published in:
2017
By:
- Swaminathan, Rajeswari;
- Yungui Huang;
- Astbury, Caroline;
- Fitzgerald-Butt, Sara;
- Miller, Katherine;
- Cole, Justin;
- Bartlett, Christopher;
- Lin, Simon;
- Huang, Yungui
Publication type:
journal article
ALK‐rearranged, CD34‐positive spindle cell neoplasms resembling dermatofibrosarcoma protuberans: a study of seven cases.
Published in:
Histopathology, 2024, v. 85, n. 4, p. 649, doi. 10.1111/his.15239
By:
- Agrawal, Shruti;
- Ameline, Baptiste;
- Folpe, Andrew L;
- Azzato, Elizabeth;
- Astbury, Caroline;
- Mentzel, Thomas;
- Knapp, Calvin;
- Rütten, Arno;
- Creytens, David;
- Sukov, William;
- Baumhoer, Daniel;
- Billings, Steven D;
- Fritchie, Karen J
Publication type:
Article
ALK‐rearranged, CD34‐positive spindle cell neoplasms resembling dermatofibrosarcoma protuberans: a study of seven cases.
Published in:
Histopathology, 2024, v. 85, n. 4, p. 649, doi. 10.1111/his.15239
By:
- Agrawal, Shruti;
- Ameline, Baptiste;
- Folpe, Andrew L;
- Azzato, Elizabeth;
- Astbury, Caroline;
- Mentzel, Thomas;
- Knapp, Calvin;
- Rütten, Arno;
- Creytens, David;
- Sukov, William;
- Baumhoer, Daniel;
- Billings, Steven D;
- Fritchie, Karen J
Publication type:
Article
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Published in:
Annals of Neurology, 2010, v. 68, n. 5, p. 629, doi. 10.1002/ana.22251
By:
- Mendell, Jerry R.;
- Rodino-Klapac, Louise R.;
- Rosales, Xiomara Q.;
- Coley, Brian D.;
- Galloway, Gloria;
- Lewis, Sarah;
- Malik, Vinod;
- Shilling, Chris;
- Byrne, Barry J.;
- Conlon, Thomas;
- Campbell, Katherine J.;
- Bremer, William G.;
- Taylor, Laura E.;
- Flanigan, Kevin M.;
- Gastier-Foster, Julie M.;
- Astbury, Caroline;
- Kota, Janaiah;
- Sahenk, Zarife;
- Walker, Christopher M.;
- Clark, K. Reed
Publication type:
Article
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 99, doi. 10.1002/mgg3.116
By:
- Walters‐Sen, Lauren C.;
- Hashimoto, Sayaka;
- Thrush, Devon Lamb;
- Reshmi, Shalini;
- Gastier‐Foster, Julie M.;
- Astbury, Caroline;
- Pyatt, Robert E.
Publication type:
Article
Histology, fusion status, and outcome in metastatic rhabdomyosarcoma: A report from the Children's Oncology Group.
Published in:
2017
By:
- Rudzinski, Erin R.;
- Anderson, James R.;
- Chi, Yueh‐Yun;
- Gastier‐Foster, Julie M.;
- Astbury, Caroline;
- Barr, Frederic G.;
- Skapek, Stephen X.;
- Hawkins, Douglas S.;
- Weigel, Brenda J.;
- Pappo, Alberto;
- Meyer, William H.;
- Arnold, Michael A.;
- Teot, Lisa A.;
- Parham, David M.
Publication type:
journal article
Suppression of tumorigenicity in the human prostate cancer cell line M12 via microcell-mediated restoration of chromosome 19.
Published in:
Genes, Chromosomes & Cancer, 2001, v. 31, n. 2, p. 143, doi. 10.1002/gcc.1128
By:
- Astbury, Caroline;
- Jackson-Cook, Colleen K.;
- Culp, Stephen H.;
- Paisley, Thomas E.;
- Ware, Joy L.
Publication type:
Article
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Published in:
Cytogenetic & Genome Research, 2017, v. 152, n. 2, p. 105, doi. 10.1159/000478921
By:
- Santoro, Stephanie L.;
- Hashimoto, Sayaka;
- McKinney, aimee;
- Mihalic Mosher, Theresa;
- Pyatt, Robert;
- Reshmi, Shalini C.;
- astbury, Caroline;
- Hickey, Scott E.
Publication type:
Article
Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy.
Published in:
Case Reports in Endocrinology, 2013, p. 1, doi. 10.1155/2013/524647
By:
- Bowden, Sasigarn A.;
- Cozzi, Corin;
- Hickey, Scott E.;
- Thrush, Devon Lamb;
- Astbury, Caroline;
- Nuthakki, Sushma
Publication type:
Article

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