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

SLC26A1 is a major determinant of sulfate homeostasis in humans

SLC26A1 是人类硫酸盐稳态的主要决定因素

Anja Pfau, Karen I López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree Ec Smith, Jiddeke M van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C Luft, Peter S Aronson, Anna Köttgen, Thomas J Jentsch, Felix Knauf

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

SLC13A1硫酸盐转运蛋白基因的双等位基因变异会导致低硫酸血症,并伴有轻度脊椎骨骺干骺端发育不良。

van de Kamp, Jiddeke M; Bökenkamp, Arend; Smith, Desiree E C; Wamelink, Mirjam M C; Jansen, Erwin E W; Struys, Eduard A; Waisfisz, Quinten; Verkleij, Marieke; Hartmann, Michaela F; Wang, Rong; Wudy, Stefan A; Paganini, Chiara; Rossi, Antonio; Finken, Martijn J J

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

第二例谷氨酰胺酶过度活跃病例:癫痫表型扩展

Rumping, Lynne; Pouwels, Petra J W; Wolf, Nicole I; Rehmann, Holger; Wamelink, Mirjam M C; Waisfisz, Quinten; Jans, Judith J M; Prinsen, Hubertus C M T; van de Kamp, Jiddeke M; van Hasselt, Peter M

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

耳蜗支持细胞需要 GAS2 来维持细胞骨架结构和听觉

Tingfang Chen, Alex M Rohacek, Matthew Caporizzo, Amir Nankali, Jeroen J Smits, Jaap Oostrik, Cornelis P Lanting, Erdi Kücük, Christian Gilissen, Jiddeke M van de Kamp, Ronald J E Pennings, Staci M Rakowiecki, Klaus H Kaestner, Kevin K Ohlemiller, John S Oghalai, Hannie Kremer, Benjamin L Prosser, D

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。

Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

The role of the clinician in the multi-omics era: are you ready?

多组学时代临床医生的角色:你准备好了吗?

van Karnebeek, Clara D M; Wortmann, Saskia B; Tarailo-Graovac, Maja; Langeveld, Mirjam; Ferreira, Carlos R; van de Kamp, Jiddeke M; Hollak, Carla E; Wasserman, Wyeth W; Waterham, Hans R; Wevers, Ron A; Haack, Tobias B; Wanders, Ronald J A; Boycott, Kym M

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

在荷兰,针对听力障碍基因panel进行全外显子组测序的诊断率

Zazo Seco, Celia; Wesdorp, Mieke; Feenstra, Ilse; Pfundt, Rolph; Hehir-Kwa, Jayne Y; Lelieveld, Stefan H; Castelein, Steven; Gilissen, Christian; de Wijs, Ilse J; Admiraal, Ronald Jc; Pennings, Ronald Je; Kunst, Henricus Pm; van de Kamp, Jiddeke M; Tamminga, Saskia; Houweling, Arjan C; Plomp, Astrid S; Maas, Saskia M; de Koning Gans, Pia Am; Kant, Sarina G; de Geus, Christa M; Frints, Suzanna Gm; Vanhoutte, Els K; van Dooren, Marieke F; van den Boogaard, Marie-José H; Scheffer, Hans; Nelen, Marcel; Kremer, Hannie; Hoefsloot, Lies; Schraders, Margit; Yntema, Helger G

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

下颌面骨发育不全伴小头畸形:突变和数据库更新

Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair G W; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny E V; Pyle, Louise C; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf-Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; van de Kamp, Jiddeke M; van Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

对9名患有X连锁肌酸转运体缺陷的男孩进行长期随访和治疗

van de Kamp, Jiddeke M; Pouwels, Petra J W; Aarsen, Femke K; ten Hoopen, Leontine W; Knol, Dirk L; de Klerk, Johannes B; de Coo, Ireneus F; Huijmans, Jan G M; Jakobs, Cornelis; van der Knaap, Marjo S; Salomons, Gajja S; Mancini, Grazia M S