日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Patient-Reported Outcomes After Preoperative Botulinum Toxin A Injection Prior to Abdominal Wall Hernia Surgery: An International Survey

腹壁疝手术前注射A型肉毒杆菌毒素的患者报告结局:一项国际调查

Zamkowski, Mateusz; Bullock, Jackie; Aim, Allan; Alhasso, Abdulrahman; Boermeester, Marja A; Capoccia Giovannini, Sara; de Beaux, Andrew; East, Barbora; Hernández-Granados, Pilar; Klugar, Miloslav; Kozenko, Pavlo; Moszkowicz, David; Ribas, Sónia; Schaaf, Sebastian; Śmietański, Maciej; Willaume Christoffersen, Mette; Berrevoet, Frederik

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

评估代谢图数据在捕捉儿童中链酰基辅酶A脱氢酶(MCAD)缺乏症核心结局方面的质量和价值

Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J; Chan, Alicia K J; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S; Wilson, Brenda J; Yu, Andrea C; Potter, Beth K; Chakraborty, Pranesh

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; France, Groupe DI; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christéle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Friez, Michael J; Tedder, Matt; Lee, Jennifer A; DuPont, Barbara R; Stevenson, Roger E; Skinner, Steven A; Schwartz, Charles E; Genevieve, David; Sadikovic, Bekim

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christèle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Friez, Michael J; Tedder, Matt; Lee, Jennifer A; DuPont, Barbara R; Stevenson, Roger E; Skinner, Steven A; Schwartz, Charles E; Genevieve, David; Sadikovic, Bekim

Defining the clinical phenotype of Saul-Wilson syndrome

明确索尔-威尔逊综合征的临床表型

Ferreira, Carlos R; Zein, Wadih M; Huryn, Laryssa A; Merker, Andrea; Berger, Seth I; Wilson, William G; Tiller, George E; Wolfe, Lynne A; Merideth, Melissa; Carvalho, Daniel R; Duker, Angela L; Bratke, Heiko; Haug, Marte Gjøl; Rohena, Luis; Hove, Hanne B; Xia, Zhi-Jie; Ng, Bobby G; Freeze, Hudson H; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L; Tham, Emma; Nishimura, Gen; Phillips, John A 3rd; Gahl, William A; Hamid, Rizwan; Jackson, Andrew P; Grigelioniene, Giedre; Bober, Michael B

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

评估加拿大遗传代谢病患儿队列临床数据收集质量:从加拿大遗传代谢病研究网络汲取的经验教训

Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T; Kronick, Jonathan B; Potter, Beth K; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K J; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J; Yu, Andrea C; Yuskiv, Nataliya; Chakraborty, Pranesh

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

一种复发性新生HSPD1变异与髓鞘形成不足的脑白质营养不良有关

Cömert, Cagla; Brick, Lauren; Ang, Debbie; Palmfeldt, Johan; Meaney, Brandon F; Kozenko, Mariya; Georgopoulos, Costa; Fernandez-Guerra, Paula; Bross, Peter

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

全基因组DNA甲基化检测在疑似遗传疾病但基因未明确的个体中的诊断价值

Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

人类APC2基因(编码腺瘤性息肉病蛋白2)的双等位基因缺失会导致无脑回畸形、皮质下异位症和全面发育迟缓。

Lee, Sangmoon; Chen, Dillon Y; Zaki, Maha S; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M; Dobyns, William B; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N; Mancini, Grazia M S; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M Chiara; Beiraghi Toosi, Mehran; Gleeson, Joseph G