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

Gain-of-function variants in SMAD4 compromise respiratory epithelial function.

SMAD4 的功能获得性变异会损害呼吸道上皮功能

Lindsay Mark E, Scimone Eleanor R, Lawton Joseph, Richa Rashmi, Yonker Lael M, Di Yuanpu P, Buch Karen, Ouyang Wukun, Mo Xiulei, Lin Angela E, Mou Hongmei

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题

Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being

先天性心脏病和遗传综合征患者存活至青年期:先天性心脏病调查以了解预后、需求和福祉

Downing, Karrie F; Lin, Angela E; Nembhard, Wendy N; Rose, Charles E; Andrews, Jennifer G; Goudie, Anthony; Klewer, Scott E; Oster, Matthew E; Farr, Sherry L

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

成人期迈尔综合征:临床变异性和新出现的基因型-表型相关性

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R; Lindsay, Mark E; Schimmenti, Lisa A; Hinze, Alicia M; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valérie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Şenol; Arslan Ateş, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Lin, Angela E; Callewaert, Bert

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)

Myhre综合征自然史的出现:麻省总医院Myhre综合征诊所评估的47例患者(2016-2023年)

Lin, Angela E; Scimone, Eleanor R; Thom, Robyn P; Balaguru, Duraisamy; Kinane, T Bernard; Moschovis, Peter P; Cohen, Michael S; Tan, Weizhen; Hague, Cole D; Dannheim, Katelyn; Levitsky, Lynne L; Lilly, Evelyn; DiGiacomo, Daniel V; Masse, Kara M; Kadzielski, Sarah M; Zar-Kessler, Claire A; Ginns, Leo C; Neumeyer, Ann M; Colvin, Mary K; Elder, Jack S; Learn, Christopher P; Mou, Hongmei; Weagle, Kathryn M; Buch, Karen A; Butler, William E; Alhadid, Kenda; Musolino, Patricia L; Sultana, Sadia; Bandyopadhyay, Dhrubajyoti; Rapalino, Otto; Peacock, Zachary S; Chou, Elizabeth L; Heidary, Gena; Dorfman, Aaron T; Morris, Shaine A; Bergin, James D; Rayment, Jonathan H; Schimmenti, Lisa A; Lindsay, Mark E

Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects

孕妇接触自来水消毒副产物与某些先天性心脏缺陷风险的关系

Michalski, Adrian M; Luben, Thomas J; Zaganjor, Ibrahim; Rhoads, Anthony; Romitti, Paul A; Conway, Kristin M; Langlois, Peter H; Feldkamp, Marcia L; Nembhard, Wendy N; Reefhuis, Jennita; Yazdy, Mahsa M; Lin, Angela E; Desrosiers, Tania A; Hoyt, Adrienne T; Browne, Marilyn L

Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries

加强出生缺陷登记中先天性心脏缺陷的分类,以用于结局关联研究

Stephens, Sara B; Benjamin, Renata H; Lopez, Keila N; Anderson, Brett R; Lin, Angela E; Shumate, Charles J; Nembhard, Wendy N; Morris, Shaine A; Agopian, A J

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

SEM1-DLX5-DLX6 (7q21.3) 基因座中的调控元件参与冠状非综合征性颅缝早闭和骨密度相关性状的遗传控制。

Nicoletti, Paola; Zafer, Samreen; Matok, Lital; Irron, Inbar; Patrick, Meidva; Haklai, Rotem; Evangelista, John Erol; Marino, Giacomo B; Ma'ayan, Avi; Sewda, Anshuman; Holmes, Greg; Britton, Sierra R; Lee, Won Jun; Wu, Meng; Ru, Ying; Arnaud, Eric; Botto, Lorenzo; Brody, Lawrence C; Byren, Jo C; Caggana, Michele; Carmichael, Suzan L; Cilliers, Deirdre; Conway, Kristin; Crawford, Karen; Cuellar, Araceli; Di Rocco, Federico; Engel, Michael; Fearon, Jeffrey; Feldkamp, Marcia L; Finnell, Richard; Fisher, Sarah; Freudlsperger, Christian; Garcia-Fructuoso, Gemma; Hagge, Rhinda; Heuzé, Yann; Harshbarger, Raymond J; Hobbs, Charlotte; Howley, Meredith; Jenkins, Mary M; Johnson, David; Justice, Cristina M; Kane, Alex; Kay, Denise; Gosain, Arun Kumar; Langlois, Peter; Legal-Mallet, Laurence; Lin, Angela E; Mills, James L; Morton, Jenny E V; Noons, Peter; Olshan, Andrew; Persing, John; Phipps, Julie M; Redett, Richard; Reefhuis, Jennita; Rizk, Elias; Samson, Thomas D; Shaw, Gary M; Sicko, Robert; Smith, Nataliya; Staffenberg, David; Stoler, Joan; Sweeney, Elizabeth; Taub, Peter J; Timberlake, Andrew T; Topczewska, Jolanta; Wall, Steven A; Wilson, Alexander F; Wilson, Louise C; Boyadjiev, Simeon A; Wilkie, Andrew O M; Richtsmeier, Joan T; Jabs, Ethylin Wang; Romitti, Paul A; Karasik, David; Birnbaum, Ramon Y; Peter, Inga

Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia

抗凝血和抗血小板治疗在遗传性出血性毛细血管扩张症中的安全性、耐受性和有效性

Virk, Zain M; Zhang, Ellen; Rodriguez-Lopez, Josanna; Witkin, Alison; Wong, Alexandra K; Luther, Jay; Lin, Angela E; Ning, MingMing; Grabowski, Eric; Holbrook, Eric H; Al-Samkari, Hanny