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Novel USP25::PDGFRA Gene Fusion in a 78 Year Old Patient with a Myeloid Neoplasm.
Published in:
Laboratory Medicine, 2022, v. 53, n. 5, p. e134, doi. 10.1093/labmed/lmac010
By:
- Dalland, Joanna C;
- Blackburn, Patrick R;
- Reichard, Kaaren K;
- Johnson, Sarah H;
- Smadbeck, James B;
- Vasmatzis, George;
- Hoppman, Nicole L;
- Xu, Xinjie;
- Greipp, Patricia T;
- Baughn, Linda B;
- Peterson, Jess F
Publication type:
Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Published in:
2019
By:
- Blackburn, Patrick R;
- Sullivan, Adrienne E;
- Gerassimou, Alexis G;
- Kleinendorst, Lotte;
- Bersten, David C;
- Cooiman, Mellody;
- Harris, Kimberly G;
- Wierenga, Klaas J;
- Klee, Eric W;
- van Gerpen, Jay A;
- Ross, Owen A;
- van Haelst, Mieke M;
- Whitelaw, Murray L;
- Caulfield, Thomas R;
- Atwal, Paldeep S
Publication type:
journal article
P²T²: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.
Published in:
JAMIA Open, 2021, v. 4, n. 3, p. 1, doi. 10.1093/jamiaopen/ooab065
By:
- DeVoe, Elias;
- Oliver, Gavin R.;
- Zenka, Roman;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Kocher, Jean-Pierre A.;
- Urrutia, Raul;
- Klee, EricW.;
- Zimmermann, Michael T.
Publication type:
Article
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.
Published in:
Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6968395
By:
- Harris, Antoneicka L.;
- Blackburn, Patrick R.;
- Richter, John E.;
- Gass, Jennifer M.;
- Caulfield, Thomas R.;
- Mohammad, Ahmed N.;
- Atwal, Paldeep S.
Publication type:
Article
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
Published in:
Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
By:
- Zimmermann, Michael T.;
- Urrutia, Raul A.;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Klee, Eric W.;
- Macmurdo, Colleen;
- Atwal, Paldeep S.
Publication type:
Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
By:
- Sewani, Maham;
- Nugent, Kimberly;
- Blackburn, Patrick R.;
- Tarnowski, Jessica M.;
- Hernandez‐Garcia, Andres;
- Amiel, Jeanne;
- Whalen, Sandra;
- Keren, Boris;
- Courtin, Thomas;
- Rosenfeld, Jill A.;
- Yang, Yaping;
- Patterson, Marc C.;
- Pichurin, Pavel;
- McLean, Scott D.;
- Scott, Daryl A.
Publication type:
Article
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 570, doi. 10.1002/ajmg.a.61061
By:
- Nicola, Pantelis;
- Blackburn, Patrick R.;
- Rasmussen, Kristen J.;
- Bertsch, Nicole L.;
- Klee, Eric W.;
- Hasadsri, Linda;
- Pichurin, Pavel N.;
- Rankin, Julia;
- Raymond, F. Lucy;
- Clayton‐Smith, Jill
Publication type:
Article
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
By:
- Blackburn, Patrick R.;
- Chacon‐Camacho, Oscar F.;
- Ortiz‐González, Xilma R.;
- Reyes, Mariana;
- Lopez‐Uriarte, Graciela A.;
- Zarei, Shabnam;
- Bhoj, Elizabeth J.;
- Perez‐Solorzano, Sofia;
- Vaubel, Rachael A.;
- Murphree, Marine I.;
- Nava, Jessica;
- Cortes‐Gonzalez, Vianney;
- Parisi, Joseph E.;
- Villanueva‐Mendoza, Cristina;
- Tirado‐Torres, Iris G.;
- Li, Dong;
- Klee, Eric W.;
- Pichurin, Pavel N.;
- Zenteno, Juan C.
Publication type:
Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113
By:
- Boczek, Nicole J.;
- Kruisselbrink, Teresa;
- Cousin, Margot A.;
- Blackburn, Patrick R.;
- Klee, Eric W.;
- Gavrilova, Ralitza H.;
- Lanpher, Brendan C.
Publication type:
Article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
By:
- Blackburn, Patrick R.;
- Zimmermann, Michael T.;
- Gass, Jennifer M.;
- Harris, Kimberly G.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Ross, Owen A.;
- Klee, Eric W.;
- Brazis, Paul W.;
- Van Gerpen, Jay A.;
- Atwal, Paldeep S.
Publication type:
Article
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion.
Published in:
Genes, Chromosomes & Cancer, 2024, v. 63, n. 6, p. 1, doi. 10.1002/gcc.23251
By:
- Anelo, Obianuju Mercy;
- Ma, Jing;
- Neary, Jennifer L.;
- Koo, Selene C.;
- Inaba, Hiroto;
- Pinto, Soniya N.;
- Nguyen, Nga Thi;
- Hoang, Thach Ngoc;
- Bui, Lan Ngoc;
- Klco, Jeffery M.;
- Gheorghe, Gabriela;
- Blackburn, Patrick R.
Publication type:
Article
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
Published in:
Genes, Chromosomes & Cancer, 2024, v. 63, n. 1, p. 1, doi. 10.1002/gcc.23195
By:
- Blackburn, Patrick R.;
- McGee, Rose B.;
- Mostafavi, Roya;
- Carroll, Andrew J.;
- Mikhail, Fady M.;
- Armstrong, Gregory T.;
- Furtado, Larissa V.;
- Chiang, Jason;
- Wheeler, David A.;
- Carey, Steven S.;
- Nichols, Kim E.;
- Upadhyaya, Santhosh A.
Publication type:
Article
Clinical and genomic characterization of an ATRA‐insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.
Published in:
Genes, Chromosomes & Cancer, 2023, v. 62, n. 10, p. 617, doi. 10.1002/gcc.23180
By:
- Kirkham, Justin K.;
- Liu, Yen‐Chun;
- Foy, Scott G.;
- Ma, Jing;
- Gheorghe, Gabriela;
- Furtado, Larissa V.;
- Popescu, Marcela I.;
- Klco, Jeffery M.;
- Karol, Seth E.;
- Blackburn, Patrick R.
Publication type:
Article
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion.
Published in:
Genes, Chromosomes & Cancer, 2023, v. 62, n. 10, p. 611, doi. 10.1002/gcc.23149
By:
- Blackburn, Patrick R.;
- Douglass, David P.;
- Ramakrishnaiah, Raghu H.;
- Montgomery, Corey O.;
- Shi, Zonggao;
- Wheeler, David A.;
- Koo, Selene C.
Publication type:
Article
Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia.
Published in:
Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 108, doi. 10.1002/gcc.22902
By:
- Berg, Holly E.;
- Blackburn, Patrick R.;
- Baughn, Linda B.;
- Ketterling, Rhett P.;
- Xu, Xinjie;
- Greipp, Patricia T.;
- Hoppman, Nicole L.;
- Smadbeck, James B.;
- Vasmatzis, George;
- Shi, Min;
- Reichard, Kaaren K.;
- Viswanatha, David S.;
- Jevremovic, Dragan;
- Maher, George M.;
- Peterson, Jess F.
Publication type:
Article
Cryptic and atypical KMT2A‐USP2 and KMT2A‐USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
Published in:
Genes, Chromosomes & Cancer, 2020, v. 59, n. 7, p. 422, doi. 10.1002/gcc.22842
By:
- Blackburn, Patrick R.;
- Smadbeck, James B.;
- Znoyko, Iya;
- Webley, Matthew R.;
- Pitel, Beth A.;
- Vasmatzis, George;
- Xu, Xinjie;
- Greipp, Patricia T.;
- Hoppman, Nicole L.;
- Ketterling, Rhett P.;
- Baughn, Linda B.;
- Lindsey, Kathryn G.;
- Schandl, Cynthia A.;
- Wolff, Daynna J.;
- Peterson, Jess F.
Publication type:
Article
RNA sequencing identifies a novel USP9X‐USP6 promoter swap gene fusion in a primary aneurysmal bone cyst.
Published in:
Genes, Chromosomes & Cancer, 2019, v. 58, n. 8, p. 589, doi. 10.1002/gcc.22742
By:
- Blackburn, Patrick R.;
- Davila, Jaime I.;
- Jackson, Rory A.;
- Fadra, Numrah;
- Atiq, Mazen A.;
- Pitel, Beth A.;
- Nair, Asha A.;
- VanDeWalker, Todd J.;
- Hessler, Mark G.;
- Hovel, Sara K.;
- Wehrs, Rebecca N.;
- Fritchie, Karen J.;
- Jenkins, Robert B.;
- Halling, Kevin C.;
- Geiersbach, Katherine B.
Publication type:
Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
Published in:
2017
By:
- Blackburn, Patrick R.;
- Selcen, Duygu;
- Jackson, Jessica L.;
- Guthrie, Kimberly J.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Clift, Kristin E.;
- Klee, Eric W.;
- Dimberg, Elliot L.;
- Atwal, Paldeep S.
Publication type:
journal article
Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy.
Published in:
Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0622-1
By:
- Blessing, Melissa M.;
- Blackburn, Patrick R.;
- Balcom, Jessica R.;
- Krishnan, Chandra;
- Harrod, Virginia L.;
- Zimmermann, Michael T.;
- Barr Fritcher, Emily G.;
- Zysk, Christopher D.;
- Jackson, Rory A.;
- Nair, Asha A.;
- Jenkins, Robert B.;
- Halling, Kevin C.;
- Kipp, Benjamin R.;
- Ida, Cristiane M.
Publication type:
Article
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
Published in:
eLife, 2022, p. 1, doi. 10.7554/eLife.78653
By:
- Thompson, Alex F.;
- Blackburn, Patrick R.;
- Arons, Noah S.;
- Stevens, Sarah N.;
- Babovic-Vuksanovic, Dusica;
- Lian, Jane B.;
- Klee, Eric W.;
- Stumpff, Jason
Publication type:
Article
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
Published in:
Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1314, doi. 10.3390/biom10091314
By:
- Coban, Mathew A.;
- Blackburn, Patrick R.;
- Whitelaw, Murray L.;
- Haelst, Mieke M. van;
- Atwal, Paldeep S.;
- Caulfield, Thomas R.
Publication type:
Article
Atypical teratoid/rhabdoid tumour‐TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Published in:
Neuropathology & Applied Neurobiology, 2024, v. 50, n. 2, p. 1, doi. 10.1111/nan.12971
By:
- Lee, Julieann C.;
- Tran, Quynh T.;
- McGee, Rose B.;
- Perrino, Melissa R.;
- Upadhyaya, Santhosh A.;
- Hanzlik, Emily M.;
- Pytel, Nicholas;
- Carroll, Andrew J.;
- Orisme, Wilda;
- Eldomery, Mohammad;
- Wang, Lu;
- Blackburn, Patrick R.;
- Furtado, Larissa V.;
- Viaene, Angela N.;
- Luo, Minjie;
- Kalish, Jennifer M.;
- Pinto, Soniya N.;
- Bag, Asim K.;
- Orr, Brent A.
Publication type:
Article
A CTNNB1‐altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH‐activated, and not WNT‐activated, medulloblastoma.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12815
By:
- Chiang, Jason;
- Moreira, Daniel C.;
- Pytel, Nicholas J.;
- Liu, Yen‐Chun;
- Blackburn, Patrick R.;
- Shi, Zonggao;
- Cardenas, Maria;
- Wheeler, David A.;
- Furtado, Larissa V.
Publication type:
Article
Co‐occurrence of a novel <italic>PDGFRB</italic> variant and likely pathogenic variant in <italic>CASR</italic> in an individual with extensive intracranial calcifications and hypocalcaemia.
Published in:
2018
By:
- DeMeo, Natasha N.;
- Burgess, Jeremy D.;
- Blackburn, Patrick R.;
- Gass, Jennifer M.;
- Richter, John;
- Atwal, Herjot K.;
- van Gerpen, Jay A.;
- Atwal, Paldeep S.
Publication type:
Case Study
Expanded phenotype in a patient with spastic paraplegia 7.
Published in:
Clinical Case Reports, 2017, v. 5, n. 10, p. 1620, doi. 10.1002/ccr3.1109
By:
- Gass, Jennifer;
- Blackburn, Patrick R.;
- Jackson, Jessica;
- Macklin, Sarah;
- Gerpen, Jay;
- Atwal, Paldeep S.
Publication type:
Article
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Published in:
Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
By:
- Boczek, Nicole J.;
- Sigafoos, Ashley N.;
- Zimmermann, Michael T.;
- Maus, Rachel L.;
- Cousin, Margot A.;
- Blackburn, Patrick R.;
- Urrutia, Raul;
- Clark, Karl J.;
- Patterson, Marc C.;
- Wick, Myra J.;
- Klee, Eric W.
Publication type:
Article
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
By:
- Blackburn, Patrick R.;
- Schultz, Matthew J.;
- Lahner, Carrie A.;
- Li, Dong;
- Bhoj, Elizabeth;
- Fisher, Laura J.;
- Renaud, Deborah L.;
- Kenney, Amy;
- Ibrahim, Niema;
- Hashem, Mais;
- Zain Seidahmed, Mohammed;
- Hasadsri, Linda;
- Schrier Vergano, Samantha A.;
- Alkuraya, Fowzan S.;
- Lanpher, Brendan C.
Publication type:
Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
By:
- Cousin, Margot A.;
- Smith, Matthew J.;
- Sigafoos, Ashley N.;
- Jin, Jay J.;
- Murphree, Marine I.;
- Boczek, Nicole J.;
- Blackburn, Patrick R.;
- Oliver, Gavin R.;
- Aleff, Ross A.;
- Clark, Karl J.;
- Wieben, Eric D.;
- Joshi, Avni Y.;
- Pichurin, Pavel N.;
- Abraham, Roshini S.;
- Klee, Eric W.
Publication type:
Article
Cover Image.
Published in:
Developmental Dynamics, 2022, v. 251, n. 8, p. i, doi. 10.1002/dvdy.519
By:
- Schultz‐Rogers, Laura E.;
- Thayer, Michelle L.;
- Kambakam, Sekhar;
- Wierson, Wesley A.;
- Helmer, Jordan A.;
- Wishman, Mark D.;
- Wall, Kristen A.;
- Greig, Jessica L.;
- Forsman, Jaimie L.;
- Puchhalapalli, Kavya;
- Nair, Siddharth;
- Weiss, Trevor J.;
- Luiken, Jon M.;
- Blackburn, Patrick R.;
- Ekker, Stephen C.;
- Kool, Marcel;
- McGrail, Maura
Publication type:
Article
Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis.
Published in:
Developmental Dynamics, 2022, v. 251, n. 8, p. 1267, doi. 10.1002/dvdy.467
By:
- Schultz‐Rogers, Laura E.;
- Thayer, Michelle L.;
- Kambakam, Sekhar;
- Wierson, Wesley A.;
- Helmer, Jordan A.;
- Wishman, Mark D.;
- Wall, Kristen A.;
- Greig, Jessica L.;
- Forsman, Jaimie L.;
- Puchhalapalli, Kavya;
- Nair, Siddharth;
- Weiss, Trevor J.;
- Luiken, Jon M.;
- Blackburn, Patrick R.;
- Ekker, Stephen C.;
- Kool, Marcel;
- McGrail, Maura
Publication type:
Article
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.560
By:
- Oliver, Gavin R.;
- Blackburn, Patrick R.;
- Ellingson, Marissa S.;
- Conboy, Erin;
- Pinto e Vairo, Filippo;
- Webley, Matthew;
- Thorland, Erik;
- Ferber, Matthew;
- Van Hul, Els;
- Werf, Ilse M.;
- Wuyts, Wim;
- Babovic‐Vuksanovic, Dusica;
- Klee, Eric W.
Publication type:
Article
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1229, doi. 10.1002/mgg3.454
By:
- Richter, John E.;
- Zimmermann, Michael T.;
- Blackburn, Patrick R.;
- Mohammad, Ahmed N.;
- Klee, Eric W.;
- Pollard, Laura M.;
- Macmurdo, Colleen F.;
- Atwal, Paldeep S.;
- Caulfield, Thomas R.
Publication type:
Article
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 781, doi. 10.1002/mgg3.322
By:
- Lara‐Velazquez, Montserrat;
- Perdomo‐Pantoja, Alexander;
- Blackburn, Patrick R.;
- Gass, Jennifer M.;
- Caulfield, Thomas R.;
- Atwal, Paldeep S.
Publication type:
Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
By:
- Blackburn, Patrick R.;
- Selcen, Duygu;
- Gass, Jennifer M.;
- Jackson, Jessica L.;
- Macklin, Sarah;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Klee, Eric W.;
- Dimberg, Elliot L.;
- Kennelly, Kathleen D.;
- Atwal, Paldeep S.
Publication type:
Article
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 269, doi. 10.1002/mgg3.283
By:
- Cousin, Margot A.;
- Matey, Eric T.;
- Blackburn, Patrick R.;
- Boczek, Nicole J.;
- McAllister, Tammy M.;
- Kruisselbrink, Teresa M.;
- Babovic‐Vuksanovic, Dusica;
- Lazaridis, Konstantinos N.;
- Klee, Eric W.
Publication type:
Article
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 141, doi. 10.1002/mgg3.268
By:
- Blackburn, Patrick R.;
- Williams, Monique;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Beek, Geoffrey J.;
- Lomberk, Gwen A.;
- Urrutia, Raul A.;
- Babovic‐Vuksanovic, Dusica;
- Klee, Eric W.
Publication type:
Article
Cover Image.
Published in:
Neurogastroenterology & Motility, 2020, v. 32, n. 10, p. 1, doi. 10.1111/nmo.13950
By:
- Marek, Tomas;
- Mahan, Mark A.;
- Amrami, Kimberly K.;
- Blackburn, Patrick R.;
- Caffes, Patricia L.;
- Carter, Jodi M.;
- Camilleri, Michael;
- Spinner, Robert J.
Publication type:
Article
Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early‐onset colonic diverticular disease.
Published in:
Neurogastroenterology & Motility, 2020, v. 32, n. 10, p. 1, doi. 10.1111/nmo.13917
By:
- Marek, Tomas;
- Mahan, Mark A.;
- Amrami, Kimberly K.;
- Blackburn, Patrick R.;
- Caffes, Patricia L.;
- Carter, Jodi M.;
- Camilleri, Michael;
- Spinner, Robert J.
Publication type:
Article
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Published in:
PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170822
By:
- Zimmermann, Michael T.;
- Urrutia, Raul;
- Oliver, Gavin R.;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Bozeck, Nicole J.;
- Klee, Eric W.
Publication type:
Article
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.739054
By:
- Balan, Jagadheshwar;
- Jenkinson, Garrett;
- Nair, Asha;
- Saha, Neiladri;
- Koganti, Tejaswi;
- Voss, Jesse;
- Zysk, Christopher;
- Barr Fritcher, Emily G.;
- Ross, Christian A.;
- Giannini, Caterina;
- Raghunathan, Aditya;
- Kipp, Benjamin R.;
- Jenkins, Robert;
- Ida, Cris;
- Halling, Kevin C.;
- Blackburn, Patrick R.;
- Dasari, Surendra;
- Oliver, Gavin R.;
- Klee, Eric W.
Publication type:
Article
Maple syrup urine disease: mechanisms and management.
Published in:
Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
By:
- Blackburn, Patrick R.;
- Gass, Jennifer M.;
- Vairo, Filippo Pinto e.;
- Farnham, Kristen M.;
- Atwal, Herjot K.;
- Macklin, Sarah;
- Klee, Eric W.;
- Atwal, Paldeep S.
Publication type:
Article
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Published in:
Human Mutation, 2016, v. 37, n. 10, p. 1097, doi. 10.1002/humu.23047
By:
- Blackburn, Patrick R.;
- Hickey, Raymond D.;
- Nace, Rebecca A.;
- Giama, Nasra H.;
- Kraft, Daniel L.;
- Bordner, Andrew J.;
- Chaiteerakij, Roongruedee;
- McCormick, Jennifer B.;
- Radulovic, Maja;
- Graham, Rondell P.;
- Torbenson, Michael S.;
- Tortorelli, Silvia;
- Scott, C. Ronald;
- Lindor, Noralane M.;
- Milliner, Dawn S.;
- Oglesbee, Devin;
- Al‐Qabandi, Wafa'a;
- Grompe, Markus;
- Gavrilov, Dimitar K.;
- El‐Youssef, Mounif
Publication type:
Article
No evidence of XMRV in prostate cancer cohorts in the Midwestern United States.
Published in:
Retrovirology, 2011, v. 8, n. 1, p. 23, doi. 10.1186/1742-4690-8-23
By:
- Sakuma, Toshie;
- Hué, Stéphane;
- Squillace, Karen A.;
- Tonne, Jason M.;
- Blackburn, Patrick R.;
- Ohmine, Seiga;
- Thatava, Tayaramma;
- Towers, Greg J.;
- Ikeda, Yasuhiro
Publication type:
Article

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