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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures

染色质病:临床表现重叠的疾病,揭示新的变异及其DNA甲基化特征

Koparir, Asuman; Kerkhof, Jennifer; Rzasa, Jessica; Metzger, Eva; Bahena Carbajal, Paulina; Kolokotronis, Konstantinos; Koparir, Erkan; Jelting, Yvonne; Hofrichter, Michaela A H; Klepper, Jörg; König, Thomas; Runkel, Eva; Prastyo, Wahyu Eka; Deinlein, Jonas; Dragicevic Babic, Neda; Spiegler, Juliane; Stachelscheid, Nicole; Kunstmann, Erdmute; Haaf, Thomas; Sadikovic, Bekim; Klopocki, Eva

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders

来自携带变异基因的家族供体的异基因干细胞移植可导致端粒生物学疾病患者的长期植入。

Güzel, Nergis; Schumacher, Yannic; Kricheldorf, Kim; Vieri, Margherita; Kirschner, Martin; Gerhard-le Gars, Anne-Claire; Panse, Jens; Tometten, Mareike; Walter, Jeanette; Gehrig, Andrea; Kunstmann, Erdmute; Holthöfer, Laura; Schweiger, Susann; Wolff, Daniel; Kraft, Florian; Elbracht, Miriam; Kurth, Ingo; Brümmendorf, Tim H; Meyer, Robert; Beier, Fabian

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

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Functional analyses of splice site variants in TCF12

TCF12剪接位点变异的功能分析

Borst, Angela; Schweitzer, Tilmann; Horn, Denise; Kunstmann, Erdmute; König, Eva-Maria; Pluta, Natalie; Klopocki, Eva

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

A case report of Sanfilippo syndrome - the long way to diagnosis

圣菲利波综合征病例报告——漫长的诊断之路

Lorenz, Delia; Musacchio, Thomas; Kunstmann, Erdmute; Grauer, Eva; Pluta, Natalie; Stock, Annika; Speer, Christian P; Hebestreit, Helge

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

通过逐步外显子组数据分析,我们对心肌病和心律失常患者的基因诊断有了新的认识。

Kolokotronis, Konstantinos; Pluta, Natalie; Klopocki, Eva; Kunstmann, Erdmute; Messroghli, Daniel; Maack, Christoph; Tejman-Yarden, Shai; Arad, Michael; Rost, Simone; Gerull, Brenda

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

人类身高的进化保守网络揭示了矮小身材的多种孟德尔遗传原因

Hauer, Nadine N; Popp, Bernt; Taher, Leila; Vogl, Carina; Dhandapany, Perundurai S; Büttner, Christian; Uebe, Steffen; Sticht, Heinrich; Ferrazzi, Fulvia; Ekici, Arif B; De Luca, Alessandro; Klinger, Patrizia; Kraus, Cornelia; Zweier, Christiane; Wiesener, Antje; Jamra, Rami Abou; Kunstmann, Erdmute; Rauch, Anita; Wieczorek, Dagmar; Jung, Anna-Marie; Rohrer, Tilman R; Zenker, Martin; Doerr, Helmuth-Guenther; Reis, André; Thiel, Christian T