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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

SUPT16H相关神经发育障碍和神经嵴病:遗传和表型谱

Eunhye Lee,Seungmin Sim,Hee-Jung Choi,Eugene Y Liang,Carolyn Le,Roya Bina,Ryan Cohen,Elizabeth George,Soo Yeon Kim,Gifty Bhat,Erin Falsey,Richard Sidlow,Kristin Clinard,Shay Ben-Shachar,Eleina England,Beatriz Menendez,Isabella Herman,Shelly Nielsen,Jaya Punetha,Priya Bhola,J Austin Hamm,Megan A Keeney,Nike Sitzman,Sara Berger,Lakshmi Mehta,Alison J Conn,Lilian Downie,Myla Ashfaq,Hope Northrup,Ange-Line Bruel,Sylvie Odent,Justin O Szot,Noelia Nunez Martinez,Sunju Park,Julie Refkin,Jean-Marc Good,Fabienne Maurer,Cédric Le Caignec,David J Coman,Erin Anderson,Linda J Richards,Ryan J Dean,Caleb Yang,Chulwon Choi,Byung Joon Hwang,Jin Sook Lee,William B Dobyns,Murim Choi,Elliott H Sherr,Jong-Hee Chae,Yun Kee,Emanuela Argilli

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

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

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Pontocerebellar hypoplasia: a review from 1912 to 2022

脑桥小脑发育不全:1912年至2022年的回顾

Kukulka, Natalie A; Singh, Shriya; Whitehead, Matthew T; Dobyns, William B; Chang, Taeun; Kousa, Youssef A

Beyond hearing loss: exploring neurological and neurodevelopmental sequelae in asymptomatic congenital cytomegalovirus infection

超越听力损失:探索无症状先天性巨细胞病毒感染的神经系统和神经发育后遗症

Swanson, Meghan R; Haisley, Lauren D; Dobyns, William B; Schleiss, Mark R

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis

P253 新一代表型分析通过计算脑部MRI分析,有助于识别罕见疾病中的结构性脑畸形。

Hsieh, Tzung-Chien; Jaddu, Shriya; Weiland, Hannah; Hagen, Merle Ten; Li, Jing-Mei; Chang, Chi-Chia; Hsieh, Sun-Yuan; Chou, Hsin-Hung; Lyon, Gholson; Dobyns, William; Chen, Wei-Liang