Zobrazeno 1 - 10
of 40
pro vyhledávání: '"E. Hackbarth"'
Autor:
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103600- (2024)
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal ac
Externí odkaz:
https://doaj.org/article/4516a097c315411c89234a855ac39d44
Autor:
Rachel I Gafni, Eric Yuen, Dirk Schnabel, M Zulf Mughal, Kristina Kintzinger, Carlos Ferreira, Qing Liu, Mary E. Hackbarth, Geneviève Baujat, Gus Khursigara, Pedro Huertas, Ulrike Botschen, Yvonne Nitschke, Frank Rutsch, William A. Gahl
Publikováno v:
Journal of Bone and Mineral Research. 36:2193-2202
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff7b3df893a6427f482e402fb8fe89a
https://doi.org/10.1002/jbmr.4418
https://doi.org/10.1002/jbmr.4418
Autor:
Shehab Alzobaidi, Pingkeng Wu, Congwen Lu, Keith P. Johnston, Xuan Zhang, Nava J. Rabat-Torki, Jamie E. Hackbarth, Justin M. Harris, Dongdong Hu, Chang Da
Publikováno v:
Langmuir. 37:5408-5423
The design of surface chemistries on nanoparticles (NPs) to stabilize gas/brine foams with concentrated electrolytes, especially with divalent ions, has been elusive. Herein, we tune the surface of 20 nm silica NPs by grafting a hydrophilic and a hyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6443bc928d26daff6f67c8b52451b403
https://doi.org/10.1021/acs.langmuir.1c00832
https://doi.org/10.1021/acs.langmuir.1c00832
Autor:
Frank Rutsch, Mary E. Hackbarth, Mary Scott Roberts, Rachel I Gafni, Margaret Whelpley, Michael A. Levine, Kristen S. Pan, William A. Gahl, Ellen Macnamara, Christina Jacobsen, Ingrid A. Holm, Carlos Ferreira, Sisi Wang, Esra Dikoglu, Timothy E Corden, M Zulf Mughal, Iris R Hartley, Douglas R. Rosing, Joy Bryant, Emily Y. Chew, Kerstin Müller, Marcus Y. Chen, Shira G. Ziegler
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Generalized Arterial Calcification of Infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5524c187ee5b3c5c74f0fa73ac85f6
https://doi.org/10.1038/s41436-020-00983-0
https://doi.org/10.1038/s41436-020-00983-0
Autor:
Marjan Huizing, Marya S. Sabir, Mary E. Hackbarth, Lynne A. Wolfe, Melissa P. Wasserstein, David R. Adams, May C. Malicdan, William A. Gahl, Steven U. Walkley, F.S.A.S.D. Consortium
Publikováno v:
Molecular Genetics and Metabolism. 135:S59-S60
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f75e8478274e76e568cff7dd9ebfcafc
https://doi.org/10.1016/j.ymgme.2021.11.147
https://doi.org/10.1016/j.ymgme.2021.11.147
Autor:
William A. Gahl, Mary E. Hackbarth, Ulrike Botschen, Kristina Kintzinger, Sisi Wang, Yvonne Nitschke, Kerstin Mueller, Gus Khursigara, Rachel I Gafni, Carlos Ferreira, Frank Rutsch
Publikováno v:
Bone Reports, Vol 13, Iss, Pp 100704-(2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffea57f52f2fa58537ad8ddab9997069
http://www.sciencedirect.com/science/article/pii/S2352187220304642
http://www.sciencedirect.com/science/article/pii/S2352187220304642
Autor:
Shehab Alzobaidi, Timothy Angeles, Shaye MacAuliffe, Chang Da, Nava J. Rabat-Torki, Pingkeng Wu, Xuan Zhang, Jamie E. Hackbarth, Sudipta Panja, Keith P. Johnston
Publikováno v:
Journal of colloid and interface science. 581
Hypothesis For an oil droplet on calcite with an intervening brine film, the water contact angle θw may be reduced markedly (greater water wetness) with surface modified silica nanoparticles (NP). Modification with cationic, anionic, and nonionic li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ffed9cb72a84ab59572165b6d98e95d
https://pubmed.ncbi.nlm.nih.gov/32814189
https://pubmed.ncbi.nlm.nih.gov/32814189
Autor:
Marya S. Sabir, Mary E. Hackbarth, John D. Burke, Lisa J. Garrett, Gene Elliott, Cecilia Rivas, Danielle A. Springer, Petcharat Leoyklang, Tannia S. Clark, Marjan Huizing, William A. Gahl, May Christine V. Malicdan
Publikováno v:
Molecular Genetics and Metabolism. 135:S107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dcaffbe7009df49a47c5a98bf17ae14
https://doi.org/10.1016/j.ymgme.2021.11.283
https://doi.org/10.1016/j.ymgme.2021.11.283
Autor:
Rachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T. McCray, Vandana Shashi, Cynthia J. Tifft, Anastasia L. Wise, Christopher J. Adams, Mercedes E. Alejandro, Mashid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, David Bernick, Anna Bican, David P. Bick, Camille L. Birch, Braden E. Boone, Lauren C. Briere, Donna M. Brown, Catherine A. Brownstein, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary D. Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, Rachel Eastwood, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, David B. Goldstein, Mary 'Gracie' G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine A. Groden, Andrea L. Gropman, Mary E. Hackbarth, Melissa Haendel, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew R. Herzog, Ingrid A. Holm, Ellen M. Howerton, Brenda Iglesias, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Paul R. Lee, Shawn E. Levy, Denise J. Levy, Richard A. Lewis, Adam P. Liebendorder, Sharyn A. Lincoln, Carson R. Loomis, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Casey Martin, Paul Mazur, Alexandra J. McCarty, Allyn McConkie-Rosell, Thomas O. Metz, Matthew Might, Paolo M. Moretti, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Sarah Sadozai, Katherine E. Schaffer, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Edwin K. Silverman, Janet S. Sinsheimer, Ariane G. Soldatos, Rebecca C. Spillmann, Kimberly Splinter, Joan M. Stoler, Nicholas Stong, Kimberly A. Strong, Jennifer A. Sullivan, David A. Sweetser, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Alyssa A. Tran, Zaheer M. Valivullah, Eric Vilain, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Michael F. Wangler, Mike Warburton, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Alec A. Weech, Monte Westerfield, Matthew T. Wheeler, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Patricia A. Zornio
Publikováno v:
The American Journal of Human Genetics. 100:185-192
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf1df719c16758187f8c0be2fac6ffc
https://doi.org/10.1016/j.ajhg.2017.01.006
https://doi.org/10.1016/j.ajhg.2017.01.006
Autor:
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Wayne W. Grody, Samuel P. Strom, Eric Vilain, Joshua Deignan, Fabiola Quintero-Rivera, Sibel Kantarci, Sureni Mullegama, Sung-Hae Kang, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Azamian S. Mashid, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Lorraine Potocki, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Andrea L. Gropman, Yong-hui Jiang, Loren D.M. Pena, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Dan C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matt T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell’Angelica, Katrina M. Dipple, Matthew R. Herzog, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Janet S. Sinsheimer, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary 'Gracie' G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson, Joy D. Cogan
Publikováno v:
The American Journal of Human Genetics. 100:343-351
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8910f952c879a58bfc4156ed97d28079
https://doi.org/10.1016/j.ajhg.2016.12.013
https://doi.org/10.1016/j.ajhg.2016.12.013