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

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

基因组测序揭示了具有先天性前段异常的多元化人群中的新变异

Hussain, Ashraf; Villalba, Maria Fernanda; Swols, Dayna Morel; Khzam, Rayan Abou; Johnson, Brittney Keira; Peart, LéShon; D'Haiti, Sarha; Grajewski, Alana L; Tekin, Mustafa; Chang, Ta Chen; Bademci, Guney

Dispersed DNA variants underlie hearing loss in South Florida's minority population

南佛罗里达州少数族裔人群听力损失的根本原因在于分散的DNA变异。

Peart, LéShon; Gonzalez, Joanna; Morel Swols, Dayna; Duman, Duygu; Saridogan, Turcin; Ramzan, Memoona; Zafeer, Mohammad Faraz; Liu, Xue Zhong; Eshraghi, Adrien A; Hoffer, Michael E; Angeli, Simon I; Bademci, Guney; Blanton, Susan; Smith, Carson; Telischi, Fred F; Tekin, Mustafa

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

TRAF7基因种系变异相关的表型谱和转录组特征

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M; Heeley, Jennifer; Briere, Lauren C; High, Frances A; Sweetser, David A; Walker, Melissa A; Keegan, Catherine E; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S; Earl, Dawn L; Siu, Victoria M; Reesor, Emma; Yao, Tony; Hegele, Robert A; Vaske, Olena M; Rego, Shannon; Shapiro, Kevin A; Wong, Brian; Gambello, Michael J; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y; Christodoulou, John; White, Susan M; Slavotinek, Anne; Barbouth, Deborah; Morel Swols, Dayna; Parisot, Mélanie; Bole-Feysot, Christine; Nitschké, Patrick; Pingault, Véronique; Munnich, Arnold; Cho, Megan T; Cormier-Daire, Valérie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

南佛罗里达州前段发育不全相关遗传变异谱

Thanikachalam, Saradadevi; Hodapp, Elizabeth; Chang, Ta C; Swols, Dayna Morel; Cengiz, Filiz B; Guo, Shengru; Zafeer, Mohammad F; Seyhan, Serhat; Bademci, Guney; Scott, William K; Grajewski, Alana; Tekin, Mustafa