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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

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

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

简讯:关于罕见眼病基因检测的亲身经历视角

Tam, Mallorie T; Daboub, Alonso; Lou, Hayami; Robillard, Julie M

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies

在一名患有多种先天性畸形的婴儿中发现了一种导致范可尼贫血的新型RAD51变异体

Geilmann, Shelby; Solstad, Rachel; Palmquist, Rachel; Flores Daboub, Josue; Botto, Lorenzo D; Grubb, Peter H; Bonkowsky, Josh L; Longo, Nicola; Malone Jenkins, Sabrina

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

评估儿科快速下一代测序技术的应用

Palmquist, Rachel; Jenkins, Sabrina Malone; Bentley, Dawn; Miller, Christine; Mao, Rong; Meibos, Bailey; Bayrak-Toydemir, Pinar; Tvrdik, Tatiana; Nadauld, Lincoln D; Bleyl, Steven B; Chowdhury, Shimul; Ostrander, Betsy; Flores-Daboub, Josue; Longo, Nicola; Tristani-Firouzi, Martin; Hobbs, Charlotte; Bonkowsky, Joshua L; Brunelli, Luca

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

在包含 104 名 Wiedemann-Steiner 综合征患者的多元化队列中,扩展了基因型和表型谱。

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M Jr; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K; Knight Johnson, Amy E; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell-Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J; Hakonarson, Hakon; Zackai, Elaine H; Quintero-Rivera, Fabiola

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

NADSYN1基因的双等位基因突变会导致多器官缺陷,并扩大先天性NAD缺乏症的基因型谱。

Szot, Justin O; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria M; Dunwoodie, Sally L

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

帕克斯-韦伯综合征与RASA1基因中的两个体细胞致病变异相关

Flores Daboub, Josue A; Grimmer, Johanes Fred; Frigerio, Alice; Wooderchak-Donahue, Whitney; Arnold, Ryan; Szymanski, Jeff; Longo, Nicola; Bayrak-Toydemir, Pinar

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

DNA甲基化特征的新见解:SMARCA2变异与尼古拉德斯-巴雷特综合征

Chater-Diehl, Eric; Ejaz, Resham; Cytrynbaum, Cheryl; Siu, Michelle T; Turinsky, Andrei; Choufani, Sanaa; Goodman, Sarah J; Abdul-Rahman, Omar; Bedford, Melanie; Dorrani, Naghmeh; Engleman, Kendra; Flores-Daboub, Josue; Genevieve, David; Mendoza-Londono, Roberto; Meschino, Wendy; Perrin, Laurence; Safina, Nicole; Townshend, Sharron; Scherer, Stephen W; Anagnostou, Evdokia; Piton, Amelie; Deardorff, Matthew; Brudno, Michael; Chitayat, David; Weksberg, Rosanna

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

靶向基因组测序用于快速诊断急性病患儿

Brunelli, Luca; Jenkins, Sabrina M; Gudgeon, James M; Bleyl, Steven B; Miller, Christine E; Tvrdik, Tatiana; Dames, Shale A; Ostrander, Betsy; Daboub, Josue A F; Zielinski, Brandon A; Zinkhan, Erin K; Underhill, Hunter R; Wilson, Theodore; Bonkowsky, Joshua L; Yost, Christian C; Botto, Lorenzo D; Jenkins, Justin; Pysher, Theodore J; Bayrak-Toydemir, Pinar; Mao, Rong