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

Addressing Patient-Provider Communication Gaps in Vanishing Twin Syndrome: Implications for Patient Care and Clinical Guidelines

解决消失双生综合征中医患沟通障碍:对患者护理和临床指南的启示

Cubbage, Nichole M; Schilit, Samantha L P; Groff, Allison; Ernst, Stephanie; Nascarella, Marc A

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

ClinGen低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议

Schmidt, Ryan J; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A; Coe, Bradley P; Conlin, Laura K; Ganapathi, Mythily; Garcia, John; Gollob, Michael H; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; McGoldrick, Kelly; Palculict, T Blake; Pesaran, Tina; Pollin, Toni I; Qian, Emily; Rehm, Heidi L; Riggs, Erin R; Schilit, Samantha L P; Sergouniotis, Panagiotis I; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S

Targeted insertion of conditional expression cassettes into the mouse genome using the modified i-PITT

利用改良的i-PITT技术将条件表达盒靶向插入小鼠基因组

Hiromi Miura,Ayaka Nakamura,Aki Kurosaki,Ai Kotani,Masaru Motojima,Keiko Tanaka,Shigeru Kakuta,Sanae Ogiwara,Yuhsuke Ohmi,Hirotaka Komaba,Samantha L P Schilit,Cynthia C Morton,Channabasavaiah B Gurumurthy,Masato Ohtsuka

Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for SYCP2 and Male Infertility to Strong

不育男性中发现的新型SYCP2功能缺失变异体,将SYCP2与男性不育的基因-疾病临床有效性分类提升至强。

Li, Jinli; Schilit, Samantha L P; Liang, Shanshan; Qin, Ningxin; Teng, Xiaoming; Zhang, Junyu

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

全基因组关联研究荟萃分析揭示了异卵双胞胎中女性生育力的遗传调控机制

Mbarek, Hamdi; Gordon, Scott D; Duffy, David L; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J; Hottenga, Jouke-Jan; Pool, René; Dolan, Conor V; Actkins, Ky'Era V; Gerring, Zachary F; Van Dongen, Jenny; Ehli, Erik A; Iacono, William G; Mcgue, Matt; Chasman, Daniel I; Gallagher, C Scott; Schilit, Samantha L P; Morton, Cynthia C; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C; Olsen, Catherine M; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K E; Pedersen, Nancy L; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W; Campos, Adrian I; Ong, Ken K; Perry, John R B; Lambalk, Cornelis B; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E; Yengo, Loic; Davis, Lea; Derks, Eske M; Medland, Sarah E; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W; Boomsma, Dorret I; Martin, Nicholas G

Reproductive Risk Estimation Calculator for Balanced Translocation Carriers

平衡易位携带者的生殖风险评估计算器

Trunca, Carolyn; Mendell, Nancy R; Schilit, Samantha L P

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

SYCP2 易位介导的失调和移码变异导致人类男性不育

Samantha L P Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E Talkowski, Frank Tüttelmann, Amy J MacQueen, Cynthia C Morton1

Acetylcholine Regulates Olfactory Perceptual Learning through Effects on Adult Neurogenesis

乙酰胆碱通过影响成年神经发生来调节嗅觉知觉学习

Schilit Nitenson, Arielle; Manzano Nieves, Gabriela; Poeta, Devon Lynn; Bahar, Ryan; Rachofsky, Carolyn; Mandairon, Nathalie; Bath, Kevin G

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants

3C-PCR:一种基于邻近连接的新方法,用于对远端等位基因变异进行染色体重排断点定位

Samantha L P Schilit, Cynthia C Morton

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

与人类先天性异常相关的平衡细胞遗传学异常的基因组图谱

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E