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

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

扩大基因组测序的可及性:来自 CincyKidsSeq 研究的自我推荐参与者获得更高的诊断率及其对混合遗传服务模式的启示

Theobald, Kristin; Shillington, Amelle; Jackson, Farrah; Lopes, Jaime; Brewer, Casey J; Dawson, Brian; Wu, Gang; Denton, James; Pauciulo, Mike; Zhang, Xue; Slavotinek, Anne

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

南斯-霍兰综合征:受累男性和女性携带者表型的进一步描述

Haanpää, Maria K; Haldeman-Englert, Chad R; Hietala, Marja; Tanverdi, Melisa S; Koty, Patrick P; Brightman, Diana; Dosunmu, Eniolami; Tibrewal, Shailja; Kaur, Savleen; Kaur, Anupriya; Verma, Raj Kumar; de Alba Campomanes, Alejandra G; Utz, Virginia; Slavotinek, Anne M; Curry, Cynthia

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

针对不同及服务不足的儿科人群进行基因组测序:家长对结果的理解、不确定性、社会心理影响及个人实用性的看法

Biesecker, Barbara B; Ackerman, Sara L; Brothers, Kyle B; East, Kelly M; Foreman, Ann Katherine M; Hindorff, Lucia A; Horowitz, Carol R; Jarvik, Gail P; Knight, Sara J; Leo, Michael C; Patrick, Donald L; Rini, Christine; Robinson, Jill O; Sahin-Hodoglugil, Nuriye Nalan; Slavotinek, Anne; Suckiel, Sabrina A; Veenstra, David L; Zinberg, Randi E; Hunter, Jessica Ezzell

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.

斑马鱼 crim1 功能丧失模型的晶状体较小且形状异常,clic4 和 fgf1b 表达失调

Le Tien, Htun Stephanie, Pandey Manoj Kumar, Sun Yihui, Magnusen Albert Frank, Ullah Ehsan, Lauzon Julie, Beres Shannon, Lee Chung, Guan Bin, Hufnagel Robert B, Brooks Brian P, Baranzini Sergio E, Slavotinek Anne

New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review

垂体重复综合征新病例报告,包括PTCH2变异型病例及文献综述

Buasri, Kochakorn; Pakhathirathien, Pattima; Sananmuang, Thiparom; Dumrongwongsiri, Sarayuth; Thatrimontrichai, Anucha; Maneenil, Gunlawadee; Khongkraparn, Arthaporn; Ngiwsara, Lukana; Sawangareetrakul, Phannee; Svasti, Jisnuson; Slavotinek, Anne; Wattanasirichaigoon, Duangrurdee

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

病例报告:眼部缺损与Rho家族小GTP酶成员CDC42基因中的一种新型错义变异相关

Brightman, Diana; Shinwari, Nawaal; Porollo, Aleksey; Dosunmu, Eniolami O; Ullah, Ehsan; Guan, Bin; Hufnagel, Robert B; Brooks, Brian P; Blain, Delphine; Fuhrmann, Sabine; Simpson, Brittany; Slavotinek, Anne M

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype

病例报告:ZC4H2 基因中一种新的错义变异 c.196C>T p.(Leu66Phe) 与一种轻度的、ZC4H2 相关 X 连锁综合征型智力障碍 (ZARD) 表型相关。

Garg, Ria; Zhang, Wenying; Hartmann, Julianne E; Slavotinek, Anne

Demonstrating the use of population level data to investigate trends in the rate, radiation dose and cost of Computed Tomography across clinical groups: Are there any areas of concern?

利用人口层面的数据来研究不同临床群体中计算机断层扫描的发生率、辐射剂量和成本的趋势:是否存在任何需要关注的领域?

Kamarova, Sviatlana; Youens, David; Ha, Ninh T; Bulsara, Max; Doust, Jenny; Fox, Richard; Kritz, Marlene; McRobbie, Donald; O'Leary, Peter; Parizel, Paul M; Slavotinek, John; Wright, Cameron; Moorin, Rachael