Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Robert J, Sicko"'
Autor:
Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 73 (2021)
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS impro
Externí odkaz:
https://doaj.org/article/6481f5b849294e69b1df70935f9b46cb
Autor:
Georgia, Pitsava, Marcia L, Feldkamp, Nathan, Pankratz, John, Lane, Denise M, Kay, Kristin M, Conway, Charlotte, Hobbs, Gary M, Shaw, Jennita, Reefhuis, Mary M, Jenkins, Lynn M, Almli, Cynthia, Moore, Martha, Werler, Marilyn L, Browne, Chris, Cunniff, Andrew F, Olshan, Faith, Pangilinan, Lawrence C, Brody, Robert J, Sicko, Richard H, Finnell, Michael J, Bamshad, Daniel, McGoldrick, Deborah A, Nickerson, James C, Mullikin, Paul A, Romitti, James L, Mills
Publikováno v:
Birth Defects Res
BACKGROUND: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined
Autor:
Lawrence C. Brody, James L. Mills, Faith Pangilinan, Jennita Reefhuis, Gary M. Shaw, Richard H. Finnell, Kristin M Conway, Marcia L. Feldkamp, Charlotte A. Hobbs, Georgia Pitsava, Andrew F. Olshan, Lynn M Almli, John Lane, Michael J. Bamshad, Deborah A. Nickerson, Mary M. Jenkins, Robert J. Sicko, Nathan Pankratz, Denise M. Kay, Paul A. Romitti, James C. Mullikin, Daniel McGoldrick
Publikováno v:
Am J Med Genet A
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for rare varia
Autor:
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0188168 (2017)
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA
Externí odkaz:
https://doaj.org/article/ea0265caf6b54fc3b6c8da1938fc1fc8
Autor:
Robert J Sicko, Marilyn L Browne, Shannon L Rigler, Charlotte M Druschel, Gang Liu, Ruzong Fan, Paul A Romitti, Michele Caggana, Denise M Kay, Lawrence C Brody, James L Mills
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0165174 (2016)
Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. The tricuspid valve abnormalities can lead to backflow of blood from the right ventricle to the right atrium, preventing proper circulation of blood
Externí odkaz:
https://doaj.org/article/1d80d22aa59444f3a9e595901a5f3aba
Autor:
Colleen F. Stevens, Robert J. Sicko, James L. Mills, Paul A. Romitti, Michele Caggana, Lawrence C. Brody, Denise M. Kay, Marilyn L. Browne
Publikováno v:
J Mol Diagn
Real-time quantitative PCR (qPCR) using RPPH1 as a reference gene is a standard method for assessment and validation of genomic copy number variations. However, variants in the reference amplicon may cause errors, which was investigated herein. While
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a60818f7198555b8267ad088fc9be5
https://europepmc.org/articles/PMC8802765/
https://europepmc.org/articles/PMC8802765/
Autor:
Melissa Leisner, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Erin E. Hughes, Robert J. Sicko, Helen Ling, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 73, p 73 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 4
International Journal of Neonatal Screening
Volume 7
Issue 4
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
Autor:
Julie M. Phipps, Jenny Morton, Elizabeth Sweeney, Araceli Cuellar, Jeremy A. Sabourin, Assen Bussarsky, Val C. Sheffield, James L. Mills, Michael L. Cunningham, David W. Johnson, Karen Crawford, Krithi Bala, Mary M. Jenkins, Marta Barba, Louise C. Wilson, Cristina M. Justice, Nadezhda Yaneva, Lawrence C. Brody, Simeon A. Boyadjiev, Paul A. Romitti, Katie E. M. Rees, Andrew O.M. Wilkie, Wanda Lattanzi, Peter H. Langlois, Peter Noons, Yan Zhou, Rachel K. Tittle, Steven A. Wall, Tony Roscioli, Marike Zwienenberg, Denise M. Kay, Deirdre Cilliers, Kiril Georgiev, Jo C. Byren, Robert J. Sicko, Craig W. Senders, Lorenzo D. Botto, Alexander F. Wilson, Radka Kaneva, E Simeonov, Astrid Weber, Gianpiero Tamburrini, Kristin M Conway, James E. Boggan, Janine M. LaSalle
Publikováno v:
Hum Genet
Human Genetics, vol 139, iss 8
Human Genetics, vol 139, iss 8
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 21
Autor:
Shannon L. Rigler, Aggeliki Dimopoulos, Paul A. Romitti, James L. Mills, Lawrence C. Brody, Ruzong Fan, Marilyn L. Browne, Robert J. Sicko, Michele Caggana, Denise M. Kay, Charlotte M. Druschel
Publikováno v:
Birth Defects Research. 109:8-15
Background Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement.
Autor:
Charlotte M. Druschel, Ruzong Fan, Marilyn L. Browne, James L. Mills, Aggeliki Dimopoulos, Robert J. Sicko, Denise M. Kay, Lawrence C. Brody, Shannon L. Rigler, Paul A. Romitti, Michele Caggana
Publikováno v:
American Journal of Medical Genetics Part A. 173:352-359
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy numbe