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

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 杂合子功能缺失变异会导致一种综合征,其特征为智力障碍、语言发育迟缓和畸形。

Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

表观遗传调控分子中破坏生长的突变与表观遗传衰老异常有关。

Jeffries, Aaron R; Maroofian, Reza; Salter, Claire G; Chioza, Barry A; Cross, Harold E; Patton, Michael A; Dempster, Emma; Temple, I Karen; Mackay, Deborah J G; Rezwan, Faisal I; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Hunter, Matthew F; Kamath, Arveen; Kumar, Ajith; Newbury-Ecob, Ruth; Selicorni, Angelo; Springer, Amanda; Van Maldergem, Lionel; Varghese, Vinod; Yachelevich, Naomi; Tatton-Brown, Katrina; Mill, Jonathan; Crosby, Andrew H; Baple, Emma L

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

塔顿-布朗-拉赫曼综合征:一项针对55名携带新生DNMT3A基因突变个体的临床研究

Tatton-Brown, Katrina; Zachariou, Anna; Loveday, Chey; Renwick, Anthony; Mahamdallie, Shazia; Aksglaede, Lise; Baralle, Diana; Barge-Schaapveld, Daniela; Blyth, Moira; Bouma, Mieke; Breckpot, Jeroen; Crabb, Beau; Dabir, Tabib; Cormier-Daire, Valerie; Fauth, Christine; Fisher, Richard; Gener, Blanca; Goudie, David; Homfray, Tessa; Hunter, Matthew; Jorgensen, Agnete; Kant, Sarina G; Kirally-Borri, Cathy; Koolen, David; Kumar, Ajith; Labilloy, Anatalia; Lees, Melissa; Marcelis, Carlo; Mercer, Catherine; Mignot, Cyril; Miller, Kathryn; Neas, Katherine; Newbury-Ecob, Ruth; Pilz, Daniela T; Posmyk, Renata; Prada, Carlos; Ramsey, Keri; Randolph, Linda M; Selicorni, Angelo; Shears, Deborah; Suri, Mohnish; Temple, I Karen; Turnpenny, Peter; Val Maldergem, Lionel; Varghese, Vinod; Veenstra-Knol, Hermine E; Yachelevich, Naomi; Yates, Laura; Rahman, Nazneen

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

染色体结构重排需要核苷酸水平的分辨率:来自下一代测序在产前诊断中的启示

Ordulu, Zehra; Kammin, Tammy; Brand, Harrison; Pillalamarri, Vamsee; Redin, Claire E; Collins, Ryan L; Blumenthal, Ian; Hanscom, Carrie; Pereira, Shahrin; Bradley, India; Crandall, Barbara F; Gerrol, Pamela; Hayden, Mark A; Hussain, Naveed; Kanengisser-Pines, Bibi; Kantarci, Sibel; Levy, Brynn; Macera, Michael J; Quintero-Rivera, Fabiola; Spiegel, Erica; Stevens, Blair; Ulm, Janet E; Warburton, Dorothy; Wilkins-Haug, Louise E; Yachelevich, Naomi; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

VPS11 的创始突变导致与自噬缺陷相关的常染色体隐性脑白质病

Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Chr

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

DNA甲基转移酶基因DNMT3A的突变会导致过度生长综合征,并伴有智力障碍。

Tatton-Brown, Katrina; Seal, Sheila; Ruark, Elise; Harmer, Jenny; Ramsay, Emma; Del Vecchio Duarte, Silvana; Zachariou, Anna; Hanks, Sandra; O'Brien, Eleanor; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Gener, Blanca; Goudie, David; Homfray, Tessa; Kumar, Ajith; Pilz, Daniela T; Selicorni, Angelo; Temple, I Karen; Van Maldergem, Lionel; Yachelevich, Naomi; van Montfort, Robert; Rahman, Nazneen