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

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Optical genome mapping identifies rare structural variants in neural tube defects

光学基因组图谱鉴定出神经管缺陷中的罕见结构变异

Sahajpal, Nikhil S; Dean, Jane; Hilton, Benjamin; Fee, Timothy; Skinner, Cindy; Hastie, Alex; DuPont, Barbara R; Chaubey, Alka; Friez, Michael J; Stevenson, Roger E

Risk of meningomyelocele mediated by the common 22q11.2 deletion

常见的22q11.2缺失介导的脊髓脊膜膨出风险

Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araújo, Camila; Machado, Hélio R; George, Renee; Gerding, Bryn; James, Kiely N; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H; Kibar, Zoha; Marwan, Ahmed I; Melikishvili, Gia; Meltzer, Hal S; Mutchinick, Osvaldo M; Stevenson, David A; Mroczkowski, Henry J; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H; Emanuel, Beverly S; Garcia-Minaur, Sixto; Nowakowska, Beata A; Stevenson, Roger E; Zaki, Maha S; Northrup, Hope; McNamara, Hanna K; Aldinger, Kimberly A; Phelps, Ian G; Deng, Mei; Glass, Ian A; Morrow, Bernice; McDonald-McGinn, Donna M; Sanna-Cherchi, Simone; Lamb, Dolores J; Gleeson, Joseph G

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

鉴定与复发性胚胎畸形相关的DNA甲基化表观遗传特征

Haghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B; White-Brown, Alexandre M; Carter, Melissa T; Richer, Julie; Armour, Christine M; Sawyer, Sarah L; Bhola, Priya T; Tedder, Matthew L; Skinner, Cindy D; van Rooij, Iris A L M; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M; Sadikovic, Bekim

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

鉴定出 Renpenning 综合征 (RENS1) 的 DNA 甲基化特征,一种剪接病

Haghshenas, Sadegheh; Foroutan, Aidin; Bhai, Pratibha; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Skinner, Cindy D; Caylor, Raymond C; Tedder, Matthew L; Stevenson, Roger E; Sadikovic, Bekim; Schwartz, Charles E

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

106例携带主要自闭症基因CHD8变异的患者的表型谱及基因型-表型相关性研究

Dingemans, Alexander J M; Truijen, Kim M G; van de Ven, Sam; Bernier, Raphael; Bongers, Ernie M H F; Bouman, Arjan; de Graaff-Herder, Laura; Eichler, Evan E; Gerkes, Erica H; De Geus, Christa M; van Hagen, Johanna M; Jansen, Philip R; Kerkhof, Jennifer; Kievit, Anneke J A; Kleefstra, Tjitske; Maas, Saskia M; de Man, Stella A; McConkey, Haley; Patterson, Wesley G; Dobson, Amy T; Prijoles, Eloise J; Sadikovic, Bekim; Relator, Raissa; Stevenson, Roger E; Stumpel, Connie T R M; Heijligers, Malou; Stuurman, Kyra E; Löhner, Katharina; Zeidler, Shimriet; Lee, Jennifer A; Lindy, Amanda; Zou, Fanggeng; Tedder, Matthew L; Vissers, Lisenka E L M; de Vries, Bert B A

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

ZNF711基因改变家族的临床发现和DNA甲基化特征

Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J; Tarpey, Patrick S; Robertson, Stephen P; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Mariëlle; Tedder, Matthew L; Schwartz, Charles E; Friez, Michael J; Sadikovic, Bekim; Stevenson, Roger E

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

新型诊断性DNA甲基化表观遗传特征扩展并完善了孟德尔遗传病的表观遗传图谱

Levy, Michael A; McConkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S; Cherik, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Kerrnohan, Kristin D; McNeill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Sin3/HDAC 核心抑制复合物成员 SIN3B 的单倍体不足会导致综合征型智力障碍/自闭症谱系障碍

Latypova, Xenia; Vincent, Marie; Mollé, Alice; Adebambo, Oluwadamilare A; Fourgeux, Cynthia; Khan, Tahir N; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J; Bell, Shannon; Stevenson, Roger E; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M; Martinez, Francisco; Rosenfeld, Jill A; Le Caignec, Cédric; Küry, Sébastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solène; Besnard, Thomas; Cogné, Benjamin; Katsanis, Nicholas; Bézieau, Stéphane; Poschmann, Jeremie; Davis, Erica E; Isidor, Bertrand