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

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

携带新生 PAK2 变异的个体出现 Knobloch 综合征 2 型的表型扩展

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

“I’m worth saving”‐ a qualitative study of people with dementia considering treatment with lecanemab

“我值得被拯救”——一项针对考虑接受lecanemab治疗的痴呆症患者的定性研究

Argilli, Emanuela; Yang, Caleb; Le, Carolyn; Elashoff, Amanda M; Parks, Kendall C; Bakker, Clare; Skotko, Brian G; Pinnell, Nancy; Mahida, Sonal; Olson, Heather; Amburgey, Kimberly; Dowling, James J; Kalsner, Louisa; Rajan, Deepa S; Munro, Christine; Barnett, Christopher; Byrne, Alicia B; England, Eleina M; Aref-Eshghi, Erfan; Mullegama, Sureni V; Morrow, Michelle M; George, Elizabeth; Sherr, Elliott H; Thacker, Ayush; Parks, Anna L; Dohan, Daniel; Gomez, Liliana A Ramirez; Ritchie, Christine S; Paladino, Joanna; Shah, Sachin J

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

在患有 Knobloch 2 型综合征的个体中检测到 PAK2 的新生变异

Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

TAOK1 与神经发育障碍有关,对神经元成熟和皮质发育至关重要

Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthu

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

BRSK2基因的有害变异与神经发育障碍相关

Hiatt, Susan M; Thompson, Michelle L; Prokop, Jeremy W; Lawlor, James M J; Gray, David E; Bebin, E Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M; McWalter, Kirsty; Cooper, Gregory M

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

TCF20基因变异与神经发育障碍:27例新病例描述及文献综述

Torti, Erin; Keren, Boris; Palmer, Elizabeth E; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J; Andrews, Marisa V; Atkinson, Celia; Au, Margaret; Berry, Susan A; Bowling, Kevin M; Boyle, Jackie; Buratti, Julien; Cathey, Sara S; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F; Finley, Sabra Ledare; Graham, John M Jr; Grange, Dorothy K; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M; Hibbs, Kathleen A; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G; Person, Richard E; Willaert, Rebecca; Solomon, Benjamin D; Juusola, Jane

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

在患有自闭症谱系障碍的儿童这一多元化临床人群中开展包括靶向基因检测在内的基因检测:研究结果及意义

Kalsner, Louisa; Twachtman-Bassett, Jennifer; Tokarski, Kristin; Stanley, Christine; Dumont-Mathieu, Thyde; Cotney, Justin; Chamberlain, Stormy

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

普拉德-威利综合征、安格曼综合征和15q11-q13重复综合征

Kalsner, Louisa; Chamberlain, Stormy J