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

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

人类 P4-ATP 酶的出口位点控制底物特异性,神经系统疾病中的新生点突变揭示了这一点

Calianese David C, Noji Tomoyasu, Sullivan Jennifer A, Schoch Kelly, Shashi Vandana, McNiven Vanda, Ramos Luiza Lorena Pires, Jordanova Albena, Kárteszi Judit, Ishikita Hiroshi, Nagata Shigekazu

Exome/Genome Sequencing in Undiagnosed Syndromes

未确诊综合征的外显子组/基因组测序

Sullivan, Jennifer A; Schoch, Kelly; Spillmann, Rebecca C; Shashi, Vandana

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

揭示基因组研究参与度低的原因:障碍、促进因素和社会文化因素之间复杂的相互作用

McConkie-Rosell, Allyn; Spillmann, Rebecca C; Schoch, Kelly; Sullivan, Jennifer A; Walley, Nicole; McDonald, Marie; Hooper, Stephen R; Shashi, Vandana

Expanding the phenotypic spectrum of ARCN1-related syndrome

扩展ARCN1相关综合征的表型谱

Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

明确X连锁MSL3相关疾病的基因型和表型谱

Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P; Callewaert, Bert L; Cereda, Anna; Cousin, Margot A; Del Rey Jimenez, Juan C; Demmer, Laurie; Dsouza, Nikita R; Fleischer, Nicole; Gavrilova, Ralitza H; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A; McEntagart, Meriel; Meeks, Naomi J L; Mittag, Dana; Moore, Harrison; Olsen, Anne K; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D M; Person, Richard E; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J Guillen; Bradley Schaefer, G; Schnur, Rhonda E; Scott, Tiana M; Scott, Daryl A; Serbinski, Carolyn R; Shashi, Vandana; Siu, Victoria M; Stadheim, Barbro Fossøy; Sullivan, Jennifer A; Švantnerová, Jana; Velsher, Lea; Wargowski, David S; Wentzensen, Ingrid M; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

TCF7L2基因的新生突变与一种综合征性神经发育障碍相关。

Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs-Hoeijmakers, Janneke; Boon, Elles M J; van Hagen, Johanna M; Zwijnenburg, Petra; Weiss, Marjan M; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G; Kotzot, Dieter; Mayr, Johannes A; Ben-Omran, Tawfeg; Mahmoud, Laila; Pais, Lynn S; Walsh, Christopher A; Shashi, Vandana; Sullivan, Jennifer A; Stong, Nicholas; Lecoquierre, Francois; Guerrot, Anne-Marie; Charollais, Aude; Rodan, Lance H

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

漏诊:未确诊疾病网络通过破解医学谜题所汲取的临床相关经验教训

Cope, Heidi; Spillmann, Rebecca; Rosenfeld, Jill A; Brokamp, Elly; Signer, Rebecca; Schoch, Kelly; Glanton, Emily; Sullivan, Jennifer A; Macnamara, Ellen; Lincoln, Sharyn; Golden-Grant, Katie; Orengo, James P; Clark, Gary; Burrage, Lindsay C; Posey, Jennifer E; Punetha, Jaya; Robertson, Amy; Cogan, Joy; Phillips, John A 3rd; Martinez-Agosto, Julian; Shashi, Vandana

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

扩大 BAF 相关疾病谱:SMARCC2 基因的新生变异导致一种伴有智力障碍和发育迟缓的综合征

Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C; Sullivan, Jennifer A; Shashi, Vandana; Jiang, Yong-Hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F; Turner, Anne; Jones, Wendy D; van Hasselt, Peter M; Hofstede, Floris C; van Gassen, Koen L I; Brooks, Alice S; van Slegtenhorst, Marjon A; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D; Tarpinian, Jennifer M; Rosenfeld, Jill A; Lee, Brendan H; Campeau, Philippe M