Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

por Sicko, Robert J., Stevens, Colleen F., Hughes, Erin E., Leisner, Melissa, Ling, Helen, Saavedra-Matiz, Carlos A., Caggana, Michele, Kay, Denise M.
Publicado 2021

RF01 | PMON167 Isolated Cushing's Disease Associated With Rare Germline SDHx Variants

por Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernãndez-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R
Publicado 2022

Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021

por Damjanovic, Amanda, Styer, Linda M., Nemeth, Katherine, Yauney, Erica, Rock, Jean M., Bievenue, Rachel, Hoen, Rebecca, Ehrbar, Dylan, Kay, Denise M., Caggana, Michele, Parker, Monica M.
Publicado 2022

Copy number variants in Ebstein anomaly

por Giannakou, Andreas, Sicko, Robert J., Zhang, Wei, Romitti, Paul, Browne, Marilyn L., Caggana, Michele, Brody, Lawrence C., Jelliffe-Pawlowski, Laura, Shaw, Gary M., Kay, Denise M., Mills, James L.
Publicado 2017

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

por Sicko, Robert J., Browne, Marilyn L., Rigler, Shannon L., Druschel, Charlotte M., Liu, Gang, Fan, Ruzong, Romitti, Paul A., Caggana, Michele, Kay, Denise M., Brody, Lawrence C., Mills, James L.
Publicado 2016

Corticotropinoma as a Component of Carney Complex

por Hernández-Ramírez, Laura C., Tatsi, Christina, Lodish, Maya B., Faucz, Fabio R., Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Valdés, Nuria, Dimopoulos, Aggeliki, Mills, James L., Stratakis, Constantine A.
Publicado 2017

OR2802 A Novel CABLES1 Missense Variant Associated With Cushing's Disease Disrupts Protein Structure And Stability

por Franco-Álvarez, Alexa L, Morán, Mariana Torres, Rebollar-Vega, Rosa G, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernández-Ramírez, Laura C
Publicado 2023

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

por Carter, Tonia C., Sicko, Robert J., Kay, Denise M., Browne, Marilyn L., Romitti, Paul A., Edmunds, Zoë L., Liu, Aiyi, Fan, Ruzong, Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
Publicado 2017

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

por Fadista, João, Skotte, Line, Geller, Frank, Bybjerg-Grauholm, Jonas, Gørtz, Sanne, Romitti, Paul A, Caggana, Michele, Kay, Denise M, Matsson, Hans, Boyd, Heather A, Hougaard, David M, Nordenskjöld, Agneta, Mills, James L, Melbye, Mads, Feenstra, Bjarke
Publicado 2019

A genetic basis for the variable effect of smoking/nicotine on Parkinson's disease

por Hill-Burns, Erin M., Singh, Navjot, Ganguly, Prabarna, Hamza, Taye H., Montimurro, Jennifer, Kay, Denise M., Yearout, Dora, Sheehan, Patricia, Frodey, Kevin, Mclear, Julie A., Feany, Mel B., Hanes, Steven D., Wolfgang, William J., Zabetian, Cyrus P., Factor, Stewart A., Payami, Haydeh
Publicado 2012

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects

por Pangilinan, Faith, Molloy, Anne M, Mills, James L, Troendle, James F, Parle-McDermott, Anne, Kay, Denise M, Browne, Marilyn L, McGrath, Emily C, Abaan, Hatice Ozel, Sutton, Marie, Kirke, Peadar N, Caggana, Michele, Shane, Barry, Scott, John M, Brody, Lawrence C
Publicado 2014

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease

por Hamza, Taye H, Zabetian, Cyrus P, Tenesa, Albert, Laederach, Alain, Montimurro, Jennifer, Yearout, Dora, Kay, Denise M, Doheny, Kimberly F, Paschall, Justin, Pugh, Elizabeth, Kusel, Victoria I, Collura, Randall, Roberts, John, Griffith, Alida, Samii, Ali, Scott, William K, Nutt, John, Factor, Stewart A, Payami, Haydeh
Publicado 2010

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

por Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, Stratakis, Constantine A
Publicado 2017

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

por Kharrazi, Martin, Sacramento, Charlene, Comeau, Anne Marie, Hale, Jaime E., Caggana, Michele, Kay, Denise M., Lee, Rachel, Reilly, Brendan, Thompson, John D., Nasr, Samya Z., Kleyn, Mary, Hoffman, Gary, Baker, Mei W., Clarke, Colleen, Harris, Cheryl L., Dorley, M. Christine, Fryman, Hilary, Sutaria, Ankit, Hietala, Amy, Winslow, Holly, Richards, Holly, Therrell, Bradford L.
Publicado 2022

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

por Martínez de LaPiscina, Idoia, Hernández-Ramírez, Laura C., Portillo, Nancy, Gómez-Gila, Ana L., Urrutia, Inés, Martínez-Salazar, Rosa, García-Castaño, Alejandro, Aguayo, Aníbal, Rica, Itxaso, Gaztambide, Sonia, Faucz, Fabio R., Keil, Margaret F., Lodish, Maya B., Quezado, Martha, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Mills, James L., Castaño, Luis, Stratakis, Constantine A.
Publicado 2020

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

por Healy, Daniel G, Falchi, Mario, O'Sullivan, Sean S, Bonifati, Vincenzo, Durr, Alexandra, Bressman, Susan, Brice, Alexis, Aasly, Jan, Zabetian, Cyrus P, Goldwurm, Stefano, Ferreira, Joaquim J, Tolosa, Eduardo, Kay, Denise M, Klein, Christine, Williams, David R, Marras, Connie, Lang, Anthony E, Wszolek, Zbigniew K, Berciano, Jose, Schapira, Anthony HV, Lynch, Timothy, Bhatia, Kailash P, Gasser, Thomas, Lees, Andrew J, Wood, Nicholas W
Publicado 2008

Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee

por Hamza, Taye H., Chen, Honglei, Hill-Burns, Erin M., Rhodes, Shannon L., Montimurro, Jennifer, Kay, Denise M., Tenesa, Albert, Kusel, Victoria I., Sheehan, Patricia, Eaaswarkhanth, Muthukrishnan, Yearout, Dora, Samii, Ali, Roberts, John W., Agarwal, Pinky, Bordelon, Yvette, Park, Yikyung, Wang, Liyong, Gao, Jianjun, Vance, Jeffery M., Kendler, Kenneth S., Bacanu, Silviu-Alin, Scott, William K., Ritz, Beate, Nutt, John, Factor, Stewart A., Zabetian, Cyrus P., Payami, Haydeh
Publicado 2011

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

por Blue, Elizabeth E., White, Janson J., Dush, Michael K., Gordon, William W., Wyatt, Brent H., White, Peter, Marvin, Colby T., Helle, Emmi, Ojala, Tiina, Priest, James R., Jenkins, Mary M., Almli, Lynn M., Reefhuis, Jennita, Pangilinan, Faith, Brody, Lawrence C., McBride, Kim L., Garg, Vidu, Shaw, Gary M., Romitti, Paul A., Nembhard, Wendy N., Browne, Marilyn L., Werler, Martha M., Kay, Denise M., Mital, Seema, Chong, Jessica X., Nascone-Yoder, Nanette M., Bamshad, Michael J.
Publicado 2023