The Association of Telomere Length and Cancer: A Meta-Analysis

Por Wentzensen, Ingrid M., Mirabello, Lisa, Pfeiffer, Ruth M., Savage, Sharon A.
Publicado em 2011

Epidemiologic evidence for a role of telomere dysfunction in cancer etiology

Por Prescott, Jennifer, Wentzensen, Ingrid M., Savage, Sharon A., De Vivo, Immaculata
Publicado em 2011

Response to Androgen Therapy in Patients with Dyskeratosis Congenita

Por Khincha, Payal P., Wentzensen, Ingrid M., Giri, Neelam, Alter, Blanche P., Savage, Sharon A.
Publicado em 2014

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Por Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Publicado no Hum Genome Var (2016)

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

Por Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A
Publicado no Dev Med Child Neurol (2014)

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Por Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Publicado no Hum Genome Var (2015)

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Por Johnston, Jennifer J., Lee, Chanjae, Wentzensen, Ingrid M., Parisi, Melissa A., Crenshaw, Molly M., Sapp, Julie C., Gross, Jeffrey M., Wallingford, John B., Biesecker, Leslie G.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Por Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.
Publicado no Clin Genet (2017)

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

Por Mai, Phuong L., Malkin, David, Garber, Judy E., Schiffman, Joshua D., Weitzel, Jeffrey N., Strong, Louise C., Wyss, Oliver, Locke, Luana, Means, Von, Achatz, Maria Isabel, Hainaut, Pierre, Frebourg, Thierry, Evans, D. Gareth, Bleiker, Eveline, Patenaude, Andrea, Schneider, Katherine, Wilfond, Benjamin, Peters, June A., Hwang, Paul M., Ford, James, Tabori, Uri, Ognjanovic, Simona, Dennis, Phillip A., Wentzensen, Ingrid M., Greene, Mark H., Fraumeni, Joseph F., Savage, Sharon A.
Publicado em 2012

De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease

Por Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K
Publicado no Hum Genet (2016)