Search Results - "Koon, Sarah"

Reduced Ciliary Polycystin-2 in Induced Pluripotent Stem Cells from Polycystic Kidney Disease Patients with PKD1 Mutations by FREEDMAN, Benjamin S, LAM, Albert Q, BONVENTRE, Joseph V, SUNDSBAK, Jamie L, IATRINO, Rossella, XUEFENG SU, KOON, Sarah J, MAOQING WU, DAHERON, Laurence, HARRIS, Peter C, JING ZHOU

“…Heterozygous mutations in PKD1 or PKD2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively, cause autosomal dominant PKD (ADPKD), whereas…”
Get full text

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling by Schueler, Markus, Braun, Daniela A., Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D., Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J., Che, Alicia, Otto, Edgar A., Böckenhauer, Detlef, Sebire, Neil J., Honzik, Tomas, Harris, Peter C., Koon, Sarah J., Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P.H., Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P., Giles, Rachel H., Kere, Juha, Hildebrandt, Friedhelm

“…Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as…”
Get full text

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 by Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T, van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A, Eisenberger, Tobias, Elting, Mariet W, van Wijk, Joanna A E, Bockenhauer, Detlef, Sebire, Neil J, Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J, Elshakhs, Neveen A Soliman, Koon, Sarah J, Harris, Peter C, Grahammer, Florian, Huber, Tobias B, Kuehn, E Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J, Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S

“…Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease…”
Get full text

Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia by Peterson, Jess F, Pitel, Beth A, Smoley, Stephanie A, Smadbeck, James B, Johnson, Sarah H, Vasmatzis, George, Koon, Sarah J, Webley, Matthew R, McGrath, Mary, Bayerl, Michael G, Baughn, Linda B, Rowsey, Ross A, Ketterling, Rhett P, Greipp, Patricia T, Hoppman, Nicole L

“…T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematopoietic neoplasm involving the bone marrow and blood that accounts for ∼15% of childhood and…”
Get full text

The perceived legitimacy of statutory rape laws: the effects of victim age, perpetrator age, and age span by Koon-Magnin, Sarah, Ruback, R. Barry

“…Statutory rape laws are intended to protect minors below the age of consent from engaging in behavior that, although not forceful, may be harmful. Two studies…”
Get full text

eP389 - Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing by Thompson, Laura, Webley, Matthew, Koon, Sarah, Rowsey, Ross, Hoppman, Nicole, Brown, Kathleen, Larson, Austin, Boczek, Nicole

Get full text

Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing by Thompson, Laura, Webley, Matthew, Koon, Sarah, Rowsey, Ross, Hoppman, Nicole, Brown, Kathleen, Larson, Austin, Boczek, Nicole

Get full text

Partner Age Differences, Educational Contexts And Adolescent Female Sexual Activity by Koon-Magnin, Sarah, Kreager, Derek A., Ruback, R. Barry

“…CONTEXT: Research suggesting that female teenagers who date substantially older males are at increased risk for negative health outcomes supports the need for…”
Get full text

The machinery of criminal justice by Sarah Koon-Magnin

“…The Machinery of Criminal Justice, by Stephanos Bibas, New York, NY: Oxford University Press, 2012, 285 pp., $75.00. ISBN: 978-0-19-537468-1…”
Get full text

Faculty and Staff Perceptions of Title IX Mandatory Reporting Policies at Two Institutions by Koon-Magnin, Sarah, Mancini, Christina

“…Most faculty and staff at postsecondary institutions are mandatory reporters who must disclose sexual assault to a Title IX Coordinator. However, scholarship…”
Get full text

Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm by Singh, Zeba N., Richards, Stephanie, El Chaer, Firas, Duong, Vu H., Gudipati, Mary A., Waters, Elizabeth O., Koon, Sarah, Webley, Matthew, Pitel, Beth, Hoppman, Nicole L., Baer, Maria R., Zou, Ying S.

Get full text

12. Analysis of the clinical utility of mate pair sequencing to further characterize congenital chromosome abnormalities by Choate, Lauren A., Pitel, Beth A., Smoley, Stephanie, Mendoza, Cinthya Zepeda, Thompson, Laura, Johnson, Sarah H., Smadbeck, James B., Pearce, Kathryn, Webley, Matt, Koon, Sarah, Vasmatzis, George, Baughn, Linda, Boczek, Nicole, Marcou, Cherisse, Rowsey, Ross, Thorland, Erik, Kearney, Hutton, Hoppman, Nicole

Get full text

24. Clinical utility of mate pair sequencing as a reflex test in B-lymphoblastic leukemia/lymphoma by Hoppman, Nicole, Pitel, Beth, Luoma, Ivy, Webley, Matthew, Koon, Sarah, Pearce, Kathryn, Smadbeck, James B., Johnson, Sarah H., Vasmatzis, George, Mendoza, Cinthya Zepeda, Ketterling, Rhett P., Baughn, Linda, Greipp, Patricia, Peterson, Jess

Get full text

Whole-Genome Mate Pair Sequencing Reflex Test to Characterize Chromosome Rearrangements in Hematologic Neoplasia by Baughn, Linda B, Pitel, Beth A, Smoley, Stephanie A., Rustin, Jeannette G, Vasmatzis, George, Johnson, Sarah H, Smadbeck, James, Webley, Matthew, Koon, Sarah J, Rowsey, Ross, Kearney, Hutton, Sukov, William, Ketterling, Rhett P., Geiersbach, Katherine, Van Dyke, Daniel L., Jenkins, Robert, Greipp, Patricia, Thorland, Erik, Hoppman, Nicole, Aypar, Umut

“…Chromosomal alterations such as translocations, inversions and deletions involving one or more breaks are common in hematologic malignancies. Mate pair…”
Get full text

Perceptions of and support for sex offender policies: Testing Levenson, Brannon, Fortney, and Baker’s findings by Koon-Magnin, Sarah

“…In one of the most impactful studies of perceptions of sex offender legislation, respondents claimed that they would support the laws, “even if there is no…”
Get full text

Faculty and Staff Perceptions of Mandatory Reporting Policies and Title IX: A National Perspective by Mancini, Christina, Koon-Magnin, Sarah

“…Many post-secondary institutions have implemented mandatory reporting (MR) requiring employees to report knowledge of sexual misconduct. Understanding employee…”
Get full text

Gender, Sexual Orientation, and Rape Myth Acceptance: Preliminary Findings From a Sample of Primarily LGBQ-Identified Survey Respondents by Schulze, Corina, Koon-Magnin, Sarah

“…This study is among the first to examine the relationship between sexual orientation and rape myth adherence using a nationwide survey of primarily lesbian,…”
Get more information

Providing and Receiving Sexual Assault Disclosures: Findings From a Sexually Diverse Sample of Young Adults by Koon-Magnin, Sarah, Schulze, Corina

“…This study utilized a sample of primarily lesbian, gay, bisexual, and queer (LGBQ)-identified young adults from across the United States to pilot test a new…”
Get full text

12. Mate pair sequencing: Unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogenetics by Hoppman, Nicole, Smoley, Stephanie, Pitel, Beth, Blommel, Joe, Koon, Sarah, Webley, Matt, Mitchell, Elyse, Essendrup, Anna, Mendoza, Cinthya Zepeda, Johnson, Sarah, Vasmatzis, George, Baughn, Linda, Greipp, Patricia, Jenkins, Robert, Kearney, Hutton, Ketterling, Rhett, Rowsey, Ross, Sukov, Bill, Thorland, Erik

Get full text

Logistics and Interdisciplinary Expertise of a Sexual Assault Response Team: A Case Study Through Observations and Interviews by Koon-Magnin, Sarah, Lauren Pusey, Kimberly, McGill, Kathryn A

“…To more effectively respond to sexual assault in the United States, some jurisdictions have created sexual assault response teams (SARTs). SARTs involve…”
Get more information