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Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism.
Published in:
Molecular Syndromology, 2019, v. 10, n. 6, p. 327, doi. 10.1159/000505279
By:
- Barone Pritchard, amanda;
- Ritter, alyssa;
- Kearney, Hutton M.;
- Izumi, Kosuke
Publication type:
Article
Alleles of the Yeast PMS1 Mismatch-Repair Gene That Differentially Affect Recombinations and Replication-Related Processes.
Published in:
Genetics, 2002, v. 162, n. 3, p. 1131, doi. 10.1093/genetics/162.3.1131
By:
- Welz-Voegele, Caroline;
- Stone, Jana E.;
- Tran, Phuoc T.;
- Kearney, Hutton M.;
- Liskay, R. Michael;
- Petes, Thomas D.;
- Jinks-Robertson, Sue
Publication type:
Article
Meiotic Recombination Involving Heterozygous Large Insertions in Saccharomyces cerevisiae: ...
Published in:
Genetics, 2001, v. 158, n. 4, p. 1457, doi. 10.1093/genetics/158.4.1457
By:
- Kearney, Hutton M.;
- Kirkpatrick, David T.;
- Gerton, Jennifer L.;
- Petes, Thomas D.
Publication type:
Article
Copy number variant analysis using genome‐wide mate‐pair sequencing.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 9, p. 459, doi. 10.1002/gcc.5
By:
- Smadbeck, James B.;
- Johnson, Sarah H.;
- Smoley, Stephanie A.;
- Gaitatzes, Athanasios;
- Drucker, Travis M.;
- Zenka, Roman M.;
- Kosari, Farhad;
- Murphy, Stephen J.;
- Hoppman, Nicole;
- Aypar, Umut;
- Sukov, William R.;
- Jenkins, Robert B.;
- Kearney, Hutton M.;
- Feldman, Andrew L.;
- Vasmatzis, George
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- Marshall, Christian R.;
- Chowdhury, Shimul;
- Taft, Ryan J.;
- Lebo, Mathew S.;
- Buchan, Jillian G.;
- Harrison, Steven M.;
- Rowsey, Ross;
- Klee, Eric W.;
- Liu, Pengfei;
- Worthey, Elizabeth A.;
- Jobanputra, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.
Published in:
Journal of International Reproductive Health/Family Planning, 2014, v. 33, n. 3, p. 217
By:
- Kearney, Hutton M.;
- Thorland, Erik C.;
- Brown, Kerry K.;
- Quintero-Rivera, Fabiola;
- South, Sarah T.
Publication type:
Article
The Utilization of Chromosomal Microarray Technologies for Hematologic NeoplasmsAn ACLPS Critical Review.
Published in:
American Journal of Clinical Pathology, 2018, v. 150, n. 5, p. 375, doi. 10.1093/ajcp/aqy076
By:
- Peterson, Jess F;
- Dyke, Daniel L Van;
- Hoppman, Nicole L;
- Kearney, Hutton M;
- Sukov, William R;
- Greipp, Patricia T;
- Ketterling, Rhett P;
- Baughn, Linda B
Publication type:
Article
The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms: An ACLPS Critical Review.
Published in:
2018
By:
- Peterson, Jess F;
- Dyke, Daniel L Van;
- Hoppman, Nicole L;
- Kearney, Hutton M;
- Sukov, William R;
- Greipp, Patricia T;
- Ketterling, Rhett P;
- Baughn, Linda B;
- Van Dyke, Daniel L
Publication type:
journal article
Cover Image.
Published in:
2019
By:
- Aypar, Umut;
- Smoley, Stephanie A.;
- Pitel, Beth A.;
- Pearce, Kathryn E.;
- Zenka, Roman M.;
- Vasmatzis, George;
- Johnson, Sarah H.;
- Smadbeck, James B.;
- Peterson, Jess F.;
- Geiersbach, Katherine B.;
- Van Dyke, Daniel L.;
- Thorland, Erik C.;
- Jenkins, Robert B.;
- Ketterling, Rhett P.;
- Greipp, Patricia T.;
- Kearney, Hutton M.;
- Hoppman, Nicole L.;
- Baughn, Linda B.
Publication type:
Cover Art
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Published in:
European Journal of Haematology, 2019, v. 102, n. 1, p. 87, doi. 10.1111/ejh.13179
By:
- Aypar, Umut;
- Smoley, Stephanie A.;
- Pitel, Beth A.;
- Pearce, Kathryn E.;
- Zenka, Roman M.;
- Vasmatzis, George;
- Johnson, Sarah H.;
- Smadbeck, James B.;
- Peterson, Jess F.;
- Geiersbach, Katherine B.;
- Van Dyke, Daniel L.;
- Thorland, Erik C.;
- Jenkins, Robert B.;
- Ketterling, Rhett P.;
- Greipp, Patricia T.;
- Kearney, Hutton M.;
- Hoppman, Nicole L.;
- Baughn, Linda B.
Publication type:
Article
Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.
Published in:
Clinical Case Reports, 2021, v. 9, n. 2, p. 769, doi. 10.1002/ccr3.3608
By:
- Zepeda‐Mendoza, Cinthya J.;
- Essendrup, Anna;
- Smoley, Stephanie A.;
- Johnson, Sarah H.;
- Hoppman, Nicole L;
- Vasmatzis, George;
- Jackson, Daniel L.;
- Kearney, Hutton M.;
- Baughn, Linda B.
Publication type:
Article
Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma.
Published in:
Blood Cancer Journal, 2019, v. 9, n. 12, p. 1, doi. 10.1038/s41408-019-0255-z
By:
- Smadbeck, James;
- Peterson, Jess F.;
- Pearce, Kathryn E.;
- Pitel, Beth A.;
- Figueroa, Andrea Lebron;
- Timm, Michael;
- Jevremovic, A. Dragan;
- Shi, Min;
- Stewart, A. Keith;
- Braggio, Esteban;
- Riggs, Daniel L.;
- Bergsagel, P. Leif;
- Vasmatzis, George;
- Kearney, Hutton M.;
- Hoppman, Nicole L.;
- Ketterling, Rhett P.;
- Kumar, Shaji;
- Rajkumar, S. Vincent;
- Greipp, Patricia T.;
- Baughn, Linda B.
Publication type:
Article
REC, Drosophila MCM8, Drives Formation of Meiotic Crossovers.
Published in:
PLoS Genetics, 2005, v. 1, n. 3, p. 343, doi. 10.1371/journal.pgen.0010040
By:
- Blanton, Hunter L.;
- Radford, Sarah J.;
- McMahan, Susan;
- Kearney, Hutton M.;
- Ibrahim, Joseph G.;
- Sekelsky, Jeff;
- Hawley, R. Scott
Publication type:
Article
Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.
Published in:
2020
By:
- Lopes, Jaime L.;
- Lopes, Guilherme S.;
- Enninga, Elizabeth A. L.;
- Kearney, Hutton M.;
- Hoppman, Nicole L.;
- Rowsey, Ross A.
Publication type:
journal article
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
By:
- Shaheen, Ranad;
- Mark, Paul;
- Prevost, Christopher T.;
- AlKindi, Adila;
- Alhag, Ahmad;
- Estwani, Fatima;
- Al‐Sheddi, Tarfa;
- Alobeid, Eman;
- Alenazi, Mona M.;
- Ewida, Nour;
- Ibrahim, Niema;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Bryant, Emily M.;
- Spinelli, Egidio;
- Millichap, John;
- Barnett, Sarah S.;
- Kearney, Hutton M.;
- Accogli, Andrea;
- Scala, Marcello
Publication type:
Article
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00748-z
By:
- Marshall, Christian R.;
- Bick, David;
- Belmont, John W.;
- Taylor, Stacie L.;
- Ashley, Euan;
- Dimmock, David;
- Jobanputra, Vaidehi;
- Kearney, Hutton M.;
- Kulkarni, Shashikant;
- Rehm, Heidi
Publication type:
Article

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