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

Standards and guidelines for canine clinical genetic testing laboratories

犬类临床基因检测实验室的标准和指南

Shaffer, Lisa G; Sundin, Kyle; Geretschlaeger, Anja; Segert, Julia; Swinburne, June E; Royal, Ramon; Loechel, Robert; Ramirez, Christina J; Ballif, Blake C

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

LRRC4C 和 DPP6 在神经发育障碍中的作用

Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A; Bell, Scott C; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve; Alda, Martin; Jacquemont, Sebastien; Ordulu, Zehra; Marshall, Christian R; Carter, Melissa T; Shaffer, Lisa G; Sklar, Pamela; Girirajan, Santhosh; Morton, Cynthia C; Gusella, James F; Turecki, Gustavo; Stavropoulos, Dimitri J; Sullivan, Patrick F; Scherer, Stephen W; Talkowski, Michael E; Ernst, Carl

6q22.1 microdeletion and susceptibility to pediatric epilepsy

6q22.1微缺失与儿童癫痫易感性

Szafranski, Przemyslaw; Von Allmen, Gretchen K; Graham, Brett H; Wilfong, Angus A; Kang, Sung-Hae L; Ferreira, Jose A; Upton, Sheila J; Moeschler, John B; Bi, Weimin; Rosenfeld, Jill A; Shaffer, Lisa G; Wai Cheung, Sau; Stankiewicz, Paweł; Lalani, Seema R

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

回文GOLGA8核心重复序列促进15q13.3染色体微缺失和进化不稳定性

Antonacci, Francesca; Dennis, Megan Y; Huddleston, John; Sudmant, Peter H; Steinberg, Karyn Meltz; Rosenfeld, Jill A; Miroballo, Mattia; Graves, Tina A; Vives, Laura; Malig, Maika; Denman, Laura; Raja, Archana; Stuart, Andrew; Tang, Joyce; Munson, Brenton; Shaffer, Lisa G; Amemiya, Chris T; Wilson, Richard K; Eichler, Evan E

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

2q23.1区域的相互缺失和重复表明MBD5在自闭症谱系障碍中发挥作用

Mullegama, Sureni V; Rosenfeld, Jill A; Orellana, Carmen; van Bon, Bregje W M; Halbach, Sara; Repnikova, Elena A; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C; Talkowski, Michael E; Gusella, James F; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart; Pyatt, Robert E; Waggoner, Darrel J; Shaffer, Lisa G; Lin, Angela E; de Vries, Bert B A; Mendoza-Londono, Roberto; Elsea, Sarah H

Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations

缩小最常见的罗伯逊易位中区域断点的定位范围

Jarmuz-Szymczak, Malgorzata; Janiszewska, Joanna; Szyfter, Krzysztof; Shaffer, Lisa G

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

ZC4H2基因突变通过损害中枢和周围突触可塑性,与先天性多发性关节挛缩症和智力障碍相关。

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Nguyen, Lam Son; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Géraldine; Shaffer, Lisa G; Rosenfeld, Jill A; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F; Hennekam, Raoul; Wieacker, Peter; Hübner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frédéric; Kalscheuer, Vera M

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号易感性

Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie L P; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha I A; Goin-Kochel, Robin P; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

Neuropathology of brain and spinal malformations in a case of monosomy 1p36

1p36单体型病例中脑和脊髓畸形的神经病理学

Shiba, Naoko; Daza, Ray A M; Shaffer, Lisa G; Barkovich, A James; Dobyns, William B; Hevner, Robert F

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

在常规核型正常的情况下,微阵列技术应用于产前细胞遗传学的临床应用价值:文献综述

Callaway, Jonathan L A; Shaffer, Lisa G; Chitty, Lyn S; Rosenfeld, Jill A; Crolla, John A