Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Mary M, Jenkins"'
Autor:
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study o
Externí odkaz:
https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
Autor:
Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study
Publikováno v:
PLoS Genetics, Vol 17, Iss 3, p e1009413 (2021)
Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal genetic varian
Externí odkaz:
https://doaj.org/article/9282ffc322c144a89147d812f1821ee8
Autor:
Jingjing, Li, Wei, Yang, Yuejun Jessie, Wang, Chen, Ma, Cynthia J, Curry, Daniel, McGoldrick, Deborah A, Nickerson, Jessica X, Chong, Elizabeth E, Blue, James C, Mullikin, Jennita, Reefhuis, Wendy N, Nembhard, Paul A, Romitti, Martha M, Werler, Marilyn L, Browne, Andrew F, Olshan, Richard H, Finnell, Marcia L, Feldkamp, Faith, Pangilinan, Lynn M, Almli, Mike J, Bamshad, Lawrence C, Brody, Mary M, Jenkins, Gary M, Shaw
Publikováno v:
American Journal of Medical Genetics Part A. 188:2376-2388
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case ser
Autor:
Sara R, Rashkin, Mario, Cleves, Gary M, Shaw, Wendy N, Nembhard, Eirini, Nestoridi, Mary M, Jenkins, Paul A, Romitti, Xiang-Yang, Lou, Marilyn L, Browne, Laura E, Mitchell, Andrew F, Olshan, Kevin, Lomangino, Sudeepa, Bhattacharyya, John S, Witte, Charlotte A, Hobbs
Publikováno v:
American Journal of Medical Genetics Part A. 188:2303-2314
Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibiliti
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:
Betsy Schroeder, Karyl Rattay, Jonathan S. Yoder, Michelle A Waltenburg, Connie Austin, Marc Fischer, Ryan P. Westergaard, Jonathan Steinberg, Julie Gabel, Nadia L Oussayef, Amy Person, Maggie Silver, Rachel Herlihy, Ryan A Maddox, Joshua L Clayton, Michael P Grant, Douglas Trout, Nykiconia Preacely, Siestke deFijter, John R. Dunn, Suzanne Tomasi, Sandor E Karpathy, Ketki Patel, George Turabelidze, Sean M. Griffing, Bradley Goodwin, Elizabeth A. Lundeen, Charles Rhea, Pamela Hendren, Sharon Saydah, Jennifer House, Henry Walke, Mary M Jenkins, Laura A. Cooley, Christa Hale, Erin D. Kennedy, Adam Bjork, Erica Berl, Lisa J. Delaney, John D Gibbins, Ian W. Pray, Rachel H. Jervis, Rachel D Schwarz, Caroline Holsinger, Theresa Kittle, Jonathan W Dyal, Meghan DeBolt, Dustin Ortbahn, Derry Stover, Farah S Ahmed, Caitlin Pedati, Jesica R Jacobs, Bryan F. Buss, Erica E Smith, Carolina Luna-Pinto, Georgina Peacock, Varun Shetty, Garry Lowry, Jennifer Hornsby-Myers, Dale A. Rose, Zack Moore, Colin Basler, Kendra Broadwater, Kelly E. Kline, Margaret A. Honein
Publikováno v:
MMWR. Morbidity and Mortality Weekly Report. 69
Congregate work and residential locations are at increased risk for infectious disease transmission including respiratory illness outbreaks. SARS-CoV-2, the virus that causes coronavirus disease 2019 (COVID-19), is primarily spread person to person t
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:
Håkon K. Gjessing, Tatiana Fomina, Allen J. Wilcox, Paul A. Romitti, L. M. Moreno Uribe, Mary M. Jenkins, Kaare Christensen, George L. Wehby, Miriam Gjerdevik, Jeffrey C. Murray, Rolv T. Lie, Ronald G. Munger
Publikováno v:
Journal of Dental Research
Moreno Uribe, L M, Fomina, T, Munger, R G, Romitti, P A, Jenkins, M M, Gjessing, H K, Gjerdevik, M, Christensen, K, Wilcox, A J, Murray, J C, Lie, R T & Wehby, G L 2017, ' A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts ', Journal of Dental Research, vol. 96, no. 11, pp. 1322-1329 . https://doi.org/10.1177/0022034517716914
Moreno Uribe, L M, Fomina, T, Munger, R G, Romitti, P A, Jenkins, M M, Gjessing, H K, Gjerdevik, M, Christensen, K, Wilcox, A J, Murray, J C, Lie, R T & Wehby, G L 2017, ' A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts ', Journal of Dental Research, vol. 96, no. 11, pp. 1322-1329 . https://doi.org/10.1177/0022034517716914
Prior genome-wide association studies for oral clefts have focused on clinic-based samples with unclear generalizability. Prior samples were also small for investigating effects by cleft type and exclusively studied isolated clefts (those occurring w