Search Results - "Kemppainen, Jennifer L"

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases by Wilke, Matheus V M B, Klee, Eric W, Dhamija, Radhika, Fervenza, Fernando C, Thomas, Brittany, Leung, Nelson, Hogan, Marie C, Hager, Megan M, Kolbert, Kayla J, Kemppainen, Jennifer L, Loftus, Elle C, Leitzen, Katie M, Vitek, Carolyn R, McAllister, Tammy, Lazaridis, Konstantinos N, Pinto E Vairo, Filippo

“…Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are…”
Get full text

65 Gene-specific risk of syndrome-associated cancers in first-degree relatives of pancreatic cancer patients with pathogenic/likely pathogenic variants by Chen, Xuan, Rabe, Kari G., Meyer, Margaret A., Kemppainen, Jennifer L., Horibe, Masayasu, Chandra, Shruti, Majumder, Shounak, Petersen, Gloria M.

“…This abstract is based on unpublished data . OBJECTIVES/GOALS: The estimates of unbiased first-degree relatives (FDRs) risk of cancers would enhance genetic…”
Get full text

Genomics Integration Into Nephrology Practice by Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., Hogan, Marie C.

“…The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to…”
Get full text

Pancreatic cancer risk to siblings of probands in bilineal cancer settings by Rabe, Kari G., Stevens, Maria A., Hernández, Amanda Toledo, Chandra, Shruti, Hubbard, Joleen M., Kemppainen, Jennifer L., Majumder, Shounak, Petersen, Gloria M.

“…Pancreatic cancer (PC) risk is increased in families, but PC risk and risk perception have been understudied when both parents have cancer. An unbiased method…”
Get full text

Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2) by Pinto e Vairo, Filippo, Koster, Matthew J, Kemppainen, Jennifer L, Thomas, Brittany C, Warrington, Kenneth J

Get full text

Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis by Swanson, Casey L., Kumar, Amanika, Maharaj, Joy M., Kemppainen, Jennifer L., Thomas, Brittany C., Weinhold, Megan R., Slaby, Kristine M., Mara, Kristin C., Wick, Myra J., Bakkum-Gamez, Jamie N.

“…To increase genetic counseling referrals for patients with newly diagnosed epithelial ovarian cancer (EOC). A practice-gap analysis was performed after…”
Get full text

Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants by Chen, Xuan, Meyer, Margaret A, Kemppainen, Jennifer L, Horibe, Masayasu, Chandra, Shruti, Majumder, Shounak, Petersen, Gloria M, Rabe, Kari G

“…Increased cancer risk in first-degree relatives of probands with pancreatic ductal adenocarcinoma (PDAC probands) who carry pathogenic or likely pathogenic…”
Get more information

Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study by Qureshi, Muhammad Yasir, Patterson, Marc C., Clark, Vicki, Johnson, Jonathan N., Moutvic, Margaret A., Driscoll, Sherilyn W., Kemppainen, Jennifer L., Huston, John, Anderson, Jeff R., Badley, Andrew D., Tebben, Peter J., Wackel, Philip, Oglesbee, Devin, Glockner, James, Schreiner, George, Dugar, Sundeep, Touchette, Jillienne C., Gavrilova, Ralitza H.

“…Background (+)‐Epicatechin (EPI) induces mitochondrial biogenesis and antioxidant metabolism in muscle fibers and neurons. We aimed to evaluate safety and…”
Get full text

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease by Macke, Erica L., Pinto e Vairo, Filippo, Manian, Deepti Vellaichamy, Smith, Angela R., Kemppainen, Jennifer L., Klee, Eric W., Stephens, Michael C., Joshi, Avni Y.

Get full text

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding by Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.

“…Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by…”
Get full text

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance by Mauermann, Michelle L., Niu, Zhiyv, Renaud, Deborah L., Kemppainen, Jennifer L., Schultz, Matthew J., Klein, Christopher J.

“…•Adrenomyeloneuropathy may present with only mild myelopathic features.•Targeted gene approach aids diagnosis in atypical presentations.•Functional assay…”
Get full text

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome by Almeqdadi, Mohammad, Kemppainen, Jennifer L, Pichurin, Pavel N, Gavrilova, Ralitza H

“…BACKGROUND Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description,…”
Get full text

Three rare disease diagnoses in one patient through exome sequencing by Ferrer, Alejandro, Schultz-Rogers, Laura, Kaiwar, Charu, Kemppainen, Jennifer L, Klee, Eric W, Gavrilova, Ralitza H

“…Diagnostic exome sequencing yields a single genetic diagnosis in ∼30% of cases, and according to recent studies the prevalence of identifying two genetic…”
Get full text

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations by Samadder, N Jewel, Gay, Emily, Lindpere, Vanda, Bublitz, Michelle L, Bandel, Lorelei A, Armasu, Sebastian M, Vierkant, Robert A, Ferber, Matthew J, Klee, Eric W, Larson, Nicholas B, Kruisselbrink, Teresa M, Egan, Jan B, Kemppainen, Jennifer L, Bidwell, Jessa S, Anderson, Jennifer L, McAllister, Tammy M, Walker, T'Nita S, Kunze, Katie L, Golafshar, Michael A, Klint, Margaret A, Presutti, Richard J, Bobo, William V, Sekulic, Aleksander, Summer-Bolster, Jolene M, Willman, Cheryl L, Lazaridis, Konstantinos N

“…The autosomal dominant cancer predisposition disorders hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are genetic conditions for which…”
Get more information

The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting by Balcom, Jessica R., Kotzer, Katrina E., Waltman, Lindsey A., Kemppainen, Jennifer L., Thomas, Brittany C.

“…Ethical dilemmas are encountered commonly in the setting of the clinical genetic testing laboratory due to the complexity of genetic testing and the number of…”
Get full text

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience by Lazaridis, Konstantinos N, Schahl, Kimberly A, Cousin, Margot A, Babovic-Vuksanovic, Dusica, Riegert-Johnson, Douglas L, Gavrilova, Ralitza H, McAllister, Tammy M, Lindor, Noralane M, Abraham, Roshini S, Ackerman, Michael J, Pichurin, Pavel N, Deyle, David R, Gavrilov, Dimitar K, Hand, Jennifer L, Klee, Eric W, Stephens, Michael C, Wick, Myra J, Atkinson, Elizabeth J, Linden, David R, Ferber, Matthew J, Wieben, Eric D, Farrugia, Gianrico

“…To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of…”
Get full text

Clinomics Implementation in the Mayo Clinic Nephrology Practice: PO1666 by Hogan, Marie C., Vairo, Filippo, Lieske, John C., Fervenza, Fernando C., Erickson, Stephen B., El Ters, Mireille, Baudhuin, Linnea, Moyer, Ann M., Lisi, Emily C., Kemppainen, Jennifer L., Prochnow, Carri, Lazaridis, Konstantinos N., Albadri, Sam, Cornell, Lynn D., Harris, Peter C.

Get full text

Abstract 5768: Genetic screening in a tertiary medical center identifies carriers of cancer predisposition diseases that would be missed by clinical guidelines by Gay, Emily, Samadder, Niloy Jewel, Bublitz, Michelle L., Peterson, Melanie M., Wilson, Tammy A., Bandel, Lorelei A., Armasu, Sebastian M., Vierkant, Robert A., Ferber, Matthew J., Klee, Eric W., Larson, Nicholas B., Kruisselbrink, Teresa M., Curry, Timothy B., Egan, Jan B., Kemppainen, Jennifer L., Bidwell, Jessa S., Anderson, Jennifer L., McAllister, Tammy M., Walker, T'Nita S., Kunze, Katie L., Lindpere, Vanda, Golafshar, Michael A., Klint, Margaret, Presutti, Richard J., Bobo, William V., Sekulic, Aleksander, Bolster, Jolene M. Summer, Willman, Cheryl L., Lazaridis, Konstantinos N.

“…Abstract Two inherited autosomal dominant cancer predisposition conditions - BRCA related hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) -…”
Get full text

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL X Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding by Blackburn, Patrick R, Tischer, Alexander, Zimmermann, Michael T, Kemppainen, Jennifer L, Sastry, Sujatha, Knight Johnson, Amy E, Cousin, Margot A, Boczek, Nicole J, Oliver, Gavin, Misra, Vinod K, Gavrilova, Ralitza H, Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W

“…Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by…”
Get full text

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease by Macke, Erica L, Pinto E Vairo, Filippo, Manian, Deepti Vellaichamy, Smith, Angela R, Kemppainen, Jennifer L, Klee, Eric W, Stephens, Michael C, Joshi, Avni Y

Get full text