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

Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate

环吡喃蝶呤单磷酸治疗A型钼辅因子缺乏症患者可提高生存率

Schwarz, Guenter; Basel, Donald G; Schwahn, Bernd C; Spiegel, Ronen; Wong, Flora Y; Bliss, Robin; Squires, Liza

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

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

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

生殖系ERG单倍体不足定义了一种新的综合征,其特征是血细胞减少和血液系统恶性肿瘤易感性

Zerella, Jiarna R; Homan, Claire C; Arts, Peer; Lin, Xuzhu; Spinelli, Sam J; Venugopal, Parvathy; Babic, Milena; Brautigan, Peter J; Truong, Lynda; Arriola-Martinez, Luis; Moore, Sarah; Hollins, Rachel; Parker, Wendy T; Nguyen, Hung; Kassahn, Karin S; Branford, Susan; Feurstein, Simone; Larcher, Lise; Sicre de Fontbrune, Flore; Demirdas, Serwet; de Munnik, Sonja; Antoine-Poirel, Hélène; Brichard, Benedicte; Mansour, Sahar; Gordon, Kristiana; Wlodarski, Marcin W; Koppayi, Ashwin; Dobbins, Sara; Mutsaers, Pim G N J; Nichols, Kim E; Oak, Ninad; DeMille, Desiree; Mao, Rong; Crawford, Ali; McCarrier, Julie; Basel, Donald; Flores-Daboub, Josue; Drazer, Michael W; Phillips, Kerry; Poplawski, Nicola K; Birdsey, Graeme M; Pirri, Daniela; Ostergaard, Pia; Simons, Annet; Godley, Lucy A; Ross, David M; Hiwase, Devendra K; Soulier, Jean; Brown, Anna L; Carmichael, Catherine L; Scott, Hamish S; Hahn, Christopher N

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes

对PIK3R1致病变异的结构和动力学分析揭示了癌症、生长不足和生长过度综合征之间共同的机制

Dsouza, Nikita R; Cottrell, Catherine E; Davies, Olivia M T; Tollefson, Megha M; Frieden, Ilona J; Basel, Donald; Urrutia, Raul; Drolet, Beth A; Zimmermann, Michael T

Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 - implications for post COVID-19 conditions.

COVID-19 期间外周血单核细胞中 ACE2 表达降低——对 COVID-19 后遗症的影响

Ahmed Gulrayz, Abdelgadir Yasir, Abdelghani Amro, Simpson Pippa, Barbeau Jody, Basel Donald, Barrios Christy S, Smith Brandon A, Schilter Kala F, Udani Rupa, Reddi Honey V, Willoughby Rodney E

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease

新的基因内和基因组变异凸显了HCCS相关疾病的表型变异性

Reis, Linda M; Basel, Donald; Bitoun, Pierre; Walton, David S; Glaser, Tom; Semina, Elena V

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics

单中心发展可持续遗传学临床护理的经验:应对医学遗传学领域劳动力挑战的模式

Kinney, Aaron; Dalton, Shelisa A; McCarrier, Julie; Basel, Donald