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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

更正:CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

DNMBP基因双等位基因功能丧失变异导致婴幼儿白内障

Ansar, Muhammad; Chung, Hyung-Lok; Taylor, Rachel L; Nazir, Aamir; Imtiaz, Samina; Sarwar, Muhammad T; Manousopoulou, Alkistis; Makrythanasis, Periklis; Saeed, Sondas; Falconnet, Emilie; Guipponi, Michel; Pournaras, Constantin J; Ansari, Maqsood A; Ranza, Emmanuelle; Santoni, Federico A; Ahmed, Jawad; Shah, Inayat; Gul, Khitab; Black, Graeme Cm; Bellen, Hugo J; Antonarakis, Stylianos E

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

MARK3基因隐性致病变异导致视力障碍和进行性眼球萎缩

Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K; Fingerhut, Ralph; Santoni, Federico A; Ranza, Emmanuelle; Waryah, Ali M; Bellen, Hugo J; Antonarakis, Stylianos E

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

GRIN2B脑病:表型、变异聚集、功能后果和治疗方面的新发现

Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R