Sharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

由CTNNB1变体引起的神经发育障碍的404个个体的基因组和表型特征

GENETICS IN MEDICINE

IF6.2

2022-11-0122

Kayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调

GENETICS IN MEDICINE

IF6.2

2021-06-0133

OAAI

Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.

Enzyme promiscuity of carbohydrate active enzymes and their applications in biocatalysis

CURRENT OPINION IN STRUCTURAL BIOLOGY

IF7

2020-12-0126

PREAI

Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS CoV-2

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2020-10-05299

Diorio, Caroline; Henrickson, Sarah E.; Vella, Laura A.; McNerney, Kevin O.; Chase, Julie; Burudpakdee, Chakkapong; Lee, Jessica H.; Jasen, Cristina; Balamuth, Fran; Barrett, David M.; Banwell, Brenda L.; Bernt, Kathrin M.; Blatz, Allison M.; Chiotos, Kathleen; Fisher, Brian T.; Fitzgerald, Julie C.; Gerber, Jeffrey S.; Gollomp, Kandace; Gray, Christopher; Grupp, Stephan A.; Harris, Rebecca M.; Kilbaugh, Todd J.; John, Audrey R. Odom; Lambert, Michele; Liebling, Emily J.; Paessler, Michele E.; Petrosa, Whitney; Phillips, Charles; Reilly, Anne F.; Romberg, Neil D.; Seif, Alix; Sesok-Pizzini, Deborah A.; Sullivan, Kathleen E.; Vardaro, Julie; Behrens, Edward M.; Teachey, David T.; Bassiri, Hamid

Mass spectrometry hybridized with gas-phase InfraRed spectroscopy for glycan sequencing

CURRENT OPINION IN STRUCTURAL BIOLOGY

IF7

2020-06-0123

OAAI

A Centralized Approach for Practicing Genomic Medicine

PEDIATRICS

IF6.4

2020-03-016