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

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

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family

SCN4A 的新型错义变异与库尔德人近亲家族中的先天性特发性震颤共同分离

Maria Asif, Ionut Dragos Mocanu, Uzma Abdullah, Wolfgang Höhne, Janine Altmüller, Ehtisham Ul Haq Makhdoom, Holger Thiele, Shahid Mahmood Baig, Peter Nürnberg, Luitgard Graul-Neumann, Muhammad Sajid Hussain

Genome sequencing in families with congenital limb malformations

对患有先天性肢体畸形的家族进行基因组测序

Elsner, Jonas; Mensah, Martin A; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C; Elçioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, André; Reuter, Miriam S; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Türkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hülsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

TRAF7基因种系变异相关的表型谱和转录组特征

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M; Heeley, Jennifer; Briere, Lauren C; High, Frances A; Sweetser, David A; Walker, Melissa A; Keegan, Catherine E; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S; Earl, Dawn L; Siu, Victoria M; Reesor, Emma; Yao, Tony; Hegele, Robert A; Vaske, Olena M; Rego, Shannon; Shapiro, Kevin A; Wong, Brian; Gambello, Michael J; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y; Christodoulou, John; White, Susan M; Slavotinek, Anne; Barbouth, Deborah; Morel Swols, Dayna; Parisot, Mélanie; Bole-Feysot, Christine; Nitschké, Patrick; Pingault, Véronique; Munnich, Arnold; Cho, Megan T; Cormier-Daire, Valérie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T

PEDIA: prioritization of exome data by image analysis

PEDIA:通过图像分析对外显子组数据进行优先级排序

Hsieh, Tzung-Chien; Mensah, Martin A; Pantel, Jean T; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Đukić, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Björn; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Köhler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J; Mangold, Elisabeth; Reina, Purificación Marín; Carrascal, Antonio Martinez; Mitter, Diana; Herrador, Laura Morlan; Nadav, Guy; Nöthen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Pölsler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wiśniewska, Marzena; Wollnik, Bernd; Yeung, Ming W; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

SLC25A24 的新生突变导致颅缝早闭综合征,伴有多毛症、早衰症和线粒体功能障碍

Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gök

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

三体拯救形成upd(7)mat:SNP芯片分型为染色体不分离提供了新的见解

Chantot-Bastaraud, Sandra; Stratmann, Svea; Brioude, Frédéric; Begemann, Matthias; Elbracht, Miriam; Graul-Neumann, Luitgard; Harbison, Madeleine; Netchine, Irène; Eggermann, Thomas

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

FGFR2基因c.943G>T (p.Ala315Ser)突变导致三代家族出现轻度克鲁宗颅面骨发育不全表型

Graul-Neumann, Luitgard M; Klopocki, Eva; Adolphs, Nicolai; Mensah, Martin A; Kress, Wolfram

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

遗传性感觉和自主神经病VIII型男孩的口腔表现、牙科治疗及PRDM12基因罕见纯合突变:病例报告及文献综述

Elhennawy, Karim; Reda, Seif; Finke, Christian; Graul-Neumann, Luitgard; Jost-Brinkmann, Paul-Georg; Bartzela, Theodosia

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy

马凡氏综合征-早衰症-脂肪营养不良综合征:一种新发现的纤维蛋白病

Passarge, Eberhard; Robinson, Peter N; Graul-Neumann, Luitgard M