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

Phenotypic findings associated with variation in elastin

与弹性蛋白变异相关的表型发现

Justice, Anne; Kelly, Melissa A; Bellus, Gary; Green, Joshua D; Zaidi, Raza; Kerrins, Taylor; Josyula, Navya; Luperchio, Teresa R; Kozel, Beth A; Williams, Marc S

The different clinical facets of SYN1-related neurodevelopmental disorders

SYN1相关神经发育障碍的不同临床表现

Parenti, Ilaria; Leitão, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cécile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Nambot, Sophie; Lehalle, Daphné; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; El Chehadeh, Salima; Schaefer, Elise; Abi-Warde, Marie-Thérèse; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Ángel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A; Kaiser, Frank J; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amélie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

对敲除小鼠和发育迟缓患者的PARP6功能进行表征

Anke Vermehren-Schmaedick,Jeffrey Y Huang,Madison Levinson,Matthew B Pomaville,Sarah Reed,Gary A Bellus,Fred Gilbert,Boris Keren,Delphine Heron,Damien Haye,Christine Janello,Christine Makowski,Katharina Danhauser,Lev M Fedorov,Tobias B Haack,Kevin M Wright,Michael S Cohen

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

携带 CHAMP1 致病变异个体的神经发育表型

Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

神经发育障碍和癌症中BRPF1-KAT6复合物介导的组蛋白H3丙酰化不足

Kezhi Yan ,Justine Rousseau ,Keren Machol ,Laura A Cross ,Katherine E Agre ,Cynthia Forster Gibson ,Anne Goverde ,Kendra L Engleman ,Hannah Verdin ,Elfride De Baere ,Lorraine Potocki ,Dihong Zhou ,Maxime Cadieux-Dion ,Gary A Bellus ,Monisa D Wagner ,Rebecca J Hale ,Natacha Esber ,Alan F Riley ,Benjamin D Solomon ,Megan T Cho ,Kirsty McWalter ,Roy Eyal ,Meagan K Hainlen ,Bryce A Mendelsohn ,Hillary M Porter ,Brendan C Lanpher ,Andrea M Lewis ,Juliann Savatt ,Isabelle Thiffault ,Bert Callewaert ,Philippe M Campeau ,Xiang-Jiao Yang

Automated syndrome diagnosis by three-dimensional facial imaging

基于三维面部成像的自动综合征诊断

Hallgrímsson, Benedikt; Aponte, J David; Katz, David C; Bannister, Jordan J; Riccardi, Sheri L; Mahasuwan, Nick; McInnes, Brenda L; Ferrara, Tracey M; Lipman, Danika M; Neves, Amanda B; Spitzmacher, Jared A J; Larson, Jacinda R; Bellus, Gary A; Pham, Anh M; Aboujaoude, Elias; Benke, Timothy A; Chatfield, Kathryn C; Davis, Shanlee M; Elias, Ellen R; Enzenauer, Robert W; French, Brooke M; Pickler, Laura L; Shieh, Joseph T C; Slavotinek, Anne; Harrop, A Robertson; Innes, A Micheil; McCandless, Shawn E; McCourt, Emily A; Meeks, Naomi J L; Tartaglia, Nicole R; Tsai, Anne C-H; Wyse, J Patrick H; Bernstein, Jonathan A; Sanchez-Lara, Pedro A; Forkert, Nils D; Bernier, Francois P; Spritz, Richard A; Klein, Ophir D

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

HRAS c.186_206dup p.(Glu62_Arg68dup) 新型重复突变:临床和功能方面

Gripp, Karen W; Baker, Laura; Robbins, Katherine M; Stabley, Deborah L; Bellus, Gary A; Kolbe, Verena; Nauth, Theresa; Rosenberger, Georg

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

更正:扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

Identification of novel candidate disease genes from de novo exonic copy number variants

从新生外显子拷贝数变异中鉴定新的候选致病基因

Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Pursley, Amber N; Nagamani, Sandesh C S; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G; Matalon, Reuben; Emrick, Lisa; Proud, Monica B; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R; Nugent, Kimberly M; Bader, Patricia I; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L; Lalani, Seema R; Bacino, Carlos A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice L; Cheung, Sau Wai; Lupski, James R; Patel, Ankita; Shaw, Chad A; Stankiewicz, Paweł