Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease

por Hamed, Alaa, DasMahapatra, Pronabesh, Lyn, Nicole, Gwaltney, Chad, Hopkin, Robert J.
Publicado 2021

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and imm...

por Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.
Publicado 2021

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease...

por Germain, Dominique P, Oliveira, João Paulo, Bichet, Daniel G, Yoo, Han-Wook, Hopkin, Robert J, Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R, Warnock, David G
Publicado 2020

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

por Baker, Elizabeth K., Brewer, Casey J., Ferreira, Leonardo, Schapiro, Mark, Tenney, Jeffrey, Wied, Heather M., Kline‐Fath, Beth M., Smolarek, Teresa A., Weaver, K. Nicole, Hopkin, Robert J.
Publicado 2022

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified...

por Hopkin, Robert J., Feldt-Rasmussen, Ulla, Germain, Dominique P., Jovanovic, Ana, Martins, Ana Maria, Nicholls, Kathleen, Ortiz, Alberto, Politei, Juan, Ponce, Elvira, Varas, Carmen, Weidemann, Frank, Yang, Meng, Wilcox, William R.
Publicado 2020

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes

por Hughes, Derralynn A, Bichet, Daniel G, Giugliani, Roberto, Hopkin, Robert J, Krusinska, Eva, Nicholls, Kathleen, Olivotto, Iacopo, Feldt-Rasmussen, Ulla, Sakai, Norio, Skuban, Nina, Sunder-Plassmann, Gere, Torra, Roser, Wilcox, William R
Publicado 2023

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

por Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Publicado 2019

Prenatal MRI Findings of Fetuses with Congenital High Airway Obstruction Sequence

por Guimaraes, Carolina V. A., Linam, Leann E., Kline-Fath, Beth M., Donnelly, Lane F., Calvo-Garcia, Maria A., Rubio, Eva I., Livingston, Jeffrey C., Hopkin, Robert J., Peach, Elizabeth, Lim, Foong-Yen, Crombleholme, Timothy M.
Publicado 2009

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

por Schulze, Katharina V., Szafranski, Przemyslaw, Lesmana, Harry, Hopkin, Robert J., Hamvas, Aaron, Wambach, Jennifer A., Shinawi, Marwan, Zapata, Gladys, Carvalho, Claudia M. B., Liu, Qian, Karolak, Justyna A., Lupski, James R., Hanchard, Neil A., Stankiewicz, Paweł
Publicado 2019

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

por Laney, Dawn A, Germain, Dominique P, Oliveira, João Paulo, Burlina, Alessandro P, Cabrera, Gustavo Horacio, Hong, Geu-Ru, Hopkin, Robert J, Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernán, Wilcox, William R, Politei, Juan Manuel, Ortiz, Alberto
Publicado 2020

Fabry disease and COVID-19: International expert recommendations for management based on real-world experience

por Laney, Dawn A., Germain, Dominique P., Oliveira, João Paulo, Burlina, Alessandro P., Cabrera, Gustavo H., Hong, Geu-Ru, Hopkin, Robert J., Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernán, Wilcox, William R., Politei, Juan M., Ortiz, Alberto
Publicado 2021

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

por Bichet, Daniel G., Hopkin, Robert J., Aguiar, Patrício, Allam, Sridhar R., Chien, Yin-Hsiu, Giugliani, Roberto, Kallish, Staci, Kineen, Sabina, Lidove, Olivier, Niu, Dau-Ming, Olivotto, Iacopo, Politei, Juan, Rakoski, Paul, Torra, Roser, Tøndel, Camilla, Hughes, Derralynn A.
Publicado 2023

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

por Ortiz, Alberto, Abiose, Ademola, Bichet, Daniel G, Cabrera, Gustavo, Charrow, Joel, Germain, Dominique P, Hopkin, Robert J, Jovanovic, Ana, Linhart, Aleš, Maruti, Sonia S, Mauer, Michael, Oliveira, João P, Patel, Manesh R, Politei, Juan, Waldek, Stephen, Wanner, Christoph, Yoo, Han-Wook, Warnock, David G
Publicado 2016

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

por Wijburg, Frits A., Bénichou, Bernard, Bichet, Daniel G., Clarke, Lorne A., Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J., Mauer, Michael, Najafian, Behzad, Scott, C. Ronald, Shankar, Suma P., Thurberg, Beth L., Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma
Publicado 2015

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

por Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Publicado 2018

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

por Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke
Publicado 2012

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

por Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Publicado 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

por Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A., Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P. A., Prada, Carlos E., Hopkin, Robert J., Shieh, Joseph T., McWalter, Kirsty, Monaghan, Kristin G., van Hasselt, Peter M., van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A., Lalani, Seema R., Azamian, Mahshid, Mancini, Grazia M. S., Adams, Darius J., Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A., Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A., de Vries, Bert B. A., Bernier, Raphael A., Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B., Eichler, Evan E., Xia, Kun
Publicado 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

por Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Publicado 2019