Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Robert J Sicko"'
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75edeb870eb7b11603abdbb3243b24e4
https://doi.org/10.1002/ajmg.a.62439
https://doi.org/10.1002/ajmg.a.62439
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ce9fd81c8ddaa3d7945f7a569cf28
https://www.mdpi.com/2409-515X/7/4/73
https://www.mdpi.com/2409-515X/7/4/73
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90794fb2cb97ea4c83778608ffa7d8e0
https://pubmed.ncbi.nlm.nih.gov/32266521
https://pubmed.ncbi.nlm.nih.gov/32266521
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a1ff0341046897a3803fec3f7c8e8e0
https://doi.org/10.1002/bdra.23586
https://doi.org/10.1002/bdra.23586
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c485c2beaa5300cfd2cb5f37621eb0
https://doi.org/10.1002/ajmg.a.37868
https://doi.org/10.1002/ajmg.a.37868
Autor:
Robert J. Sicko, Lawrence C. Brody, Margaret H. Doleman, Erin M. Hagen, Shannon L. Rigler, Shabbir Ahmad, Michele Caggana, Denise M. Kay, Marilyn L. Browne, Ruzong Fan, Paul A. Romitti, James L. Mills, Gary M. Shaw, Aggeliki Dimopoulos, Laura L. Jelliffe-Pawlowski
Publikováno v:
Human Genetics. 135:1355-1364
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f09432e9f8a330dc2593cc50b7ad411
https://doi.org/10.1007/s00439-016-1727-x
https://doi.org/10.1007/s00439-016-1727-x
Autor:
Benjamin R. Cole, Ruzong Fan, Marilyn L. Browne, Robert J. Sicko, Denise M. Kay, Nansi S. Boghossian, James L. Mills, Michele Caggana, Paul A. Romitti, Edwina Yeung, Michael Y. Tsai, Charlotte M. Druschel, Aiyi Liu, Nathan Pankratz, Lawrence C. Brody, Shannon L. Rigler
Publikováno v:
American Journal of Medical Genetics Part A. 170:622-633
The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ffe0716ea31aa3e7ff3778daa1f4456
https://doi.org/10.1002/ajmg.a.37493
https://doi.org/10.1002/ajmg.a.37493
Autor:
Laura L. Jelliffe-Pawlowski, Michele Caggana, James L. Mills, Gary M. Shaw, Andreas Giannakou, Robert J. Sicko, Denise M. Kay, Wei Zhang, Paul A. Romitti
Publikováno v:
American journal of medical genetics. Part A. 176(12)
Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Our study investigates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1dd81b300e583d5d0486b1550be89c1
https://pubmed.ncbi.nlm.nih.gov/30289599
https://pubmed.ncbi.nlm.nih.gov/30289599