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N

Najim Ameziane

Centogene AG
H指数:28
被引数:3,986

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Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes

ERBB4基因剂量不足机制研究：拓展相关表型谱

Journal of Autism and Developmental Disorders
IF2.8
2026-05-250
OAAI
Irene Mademont-Soler; Maria Camós-Carreras; Aurore Garde; A. Micheil Innes; Dijana Perovic; Barbara Golob; Aida Palacín; Henry Joel Mroczkowski; Kameryn M. Butler; Paulien Van Galen; Gabriela Oprea; Özge Güngör; Dolors Casellas-Vidal; Gemma Hernández; Himanshu Goel; Julia Appleby; Ruzica Kravljanac; Kenya De Leon; Aboulfazl Rad; Merve Yavuz; Najim Ameziane; Asude Durmaz; Cristina Popescu; Ayça Aykut; Haluk Akın; Figen Gökçay; Ioana Mindruta; Brankica Bosankic; Renee Perrier; William Burns; Debra L. Hanna; Nela Maksimovic; Borut Peterlin; Bradley Prince; Hana Safraou; Maria Obón; Susanna Esteba-Castillo
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study

基因靶向试验时代基因检测的相关性: 罗斯托克帕金森病研究

BRAIN
IF11.7
2024-08-018
OAAI
Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Bjoern-Hergen; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Gaber, Hanaa; Olmedillas, Maria; Bogdanovic, Xenia; Ameziane, Najim; Schell, Nathalie; Aasly, Jan Olav; Afshari, Mitra; Agarwal, Pinky; Aldred, Jason; Alonso-Frech, Fernando; Anderson, Roderick; Araujo, Rui; Arkadir, David; Avenali, Micol; Balal, Mehmet; Benizri, Sandra; Bette, Sagari; Bhatia, Perminder; Bonello, Michael; Braga-Neto, Pedro; Brauneis, Sarah; Cardoso, Francisco Eduardo Costa; Cavallieri, Francesco; Classen, Joseph; Cohen, Lisa; Coletta, Della; Crosiers, David; Cullufi, Paskal; Dashtipour, Khashayar; Demirkiran, Meltem; Aguiar, Patricia de Carvalho; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Ghilardi, Maria Gabriela dos Santos; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Bjoern H.; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J.; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genc, Gencer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A.; Hassin-Baer, Sharon; Hauser, Robert A.; Hernandez-Vara, Jorge; Herting, Birgit; Hinson, Vanessa K.; Hogg, Elliot; Hu, Michele T.; Hummelgen, Eduardo; Hussey, Kelly; Infante, Jon; Isaacson, Stuart H.; Jauma, Serge; Koleva-Alazeh, Natalia; Kuhlenbaeumer, Gregor; Kuehn, Andrea; Litvan, Irene; Lopez-Manzanares, Lydia; Luxmore, McKenzie; Manandhar, Sujeena; Marcaud, Veronique; Markopoulou, Katerina; Marras, Connie; McKenzie, Mark; Matarazzo, Michele; Merello, Marcelo; Mollenhauer, Brit; Morgan, John C.; Mullin, Stephen; Musacchio, Thomas; Myers, Bennett; Negrotti, Anna; Nieves, Anette; Nitsan, Zeev; Oskooilar, Nader; Oztop-Cakmak, Ozgur; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; de Souza, Carolina Pinto; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Martinez, Javier Ruiz; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M.; Schumacher-Schuh, Artur F.; Scott, Burton; Sesar, ngel; Shafer, Stuart J.; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F.; Terwecoren, Annelies; Thonke, Sven; Toenges, Lars; Toschi, Giulia; Tumas, Vitor; Urban, Peter Paul; Vacca, Laura; Vandenberghe, Wim; Valente, Enza Maria; Valzania, Franco; Vela-Desojo, Lydia; Weill, Caroline; Weise, David; Wojcieszek, Joanne; Wolz, Martin; Yahalom, Gilad; Yalcin-Cakmakli, Gul; Zittel, Simone; Zlotnik, Yair; Kandaswamy, Krishna K.; Balck, Alexander; Hanssen, Henrike; Borsche, Max; Lange, Lara M.; Csoti, Ilona; Lohmann, Katja; Kasten, Meike; Brueggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter
Immune dysregulation caused by homozygous mutations in CBLB
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2022-10-177
OAAI
Janssen, Erin; Peters, Zachary; Alosaimi, Mohammed F.; Smith, Emma; Milin, Elena; Stafstrom, Kelsey; Wallace, Jacqueline G.; Platt, Craig D.; Chou, Janet; El Ansari, Yasmeen S.; Al Farsi, Tariq; Ameziane, Najim; Al-Ali, Ruslan; Calvo, Maria; Rocha, Maria Eugenia; Bauer, Peter; Al-Sannaa, Nouriya Abbas; Al Sukaiti, Nashat Faud; Alangari, Abdullah A.; Bertoli-Avella, Aida M.; Geha, Raif S.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-12-246
OAAI
Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Selim, Laila Abdel Moteleb; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, Naser; Chalabi, Dler Nooruldeen; Alharbi, Nasser S.; Alfadhel, Majid; Abdelrahman, Mohammed; Venselaar, Hanka; Anjum, Nadeem; Saeed, Anjum; Alghamdi, Malak Ali; Aljaedi, Hamad; Arabi, Hisham; Karageorgou, Vasiliki; Khan, Suliman; Hajjari, Zahra; Radefeldt, Mandy; Al-Ali, Ruslan; Tripolszki, Kornelia; Jamhawi, Amer; Paknia, Omid; Cozma, Claudia; Cheema, Huma; Ameziane, Najim; Al-Muhsen, Saleh; Bauer, Peter
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
GENETICS IN MEDICINE
IF6.2
2021-08-0137
OAAI
Bertoli-Avella, Aida M.; Kandaswamy, Krishna K.; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patricia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A.; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N.; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S.; Huning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S.; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M.; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
GENETICS IN MEDICINE
IF6.2
2021-06-0116
OAAI
Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
BRAIN
IF11.7
2021-03-250
OAAI
Sanderson, Leslie E.; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A.; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C.; Nikoncuk, Anita; Kuhn, Nikolas A.; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Dalla Rosa Vieira, Luana Gabriela; Mombach, Romulo; Ahangari, Najmeh; Damaceno Silveira, Taina Regina; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M.; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A.; Binhumaid, Faisal S.; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M.; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A. Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A.; Karimiani, Ehsan Ghayoor; Meyer, Brian F.; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T.; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M.; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J.; Kaya, Namik
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings
MOVEMENT DISORDERS
IF7.6
2020-12-1465
OAAI
Skrahina, Volha; Gaber, Hanaa; Vollstedt, Eva-Juliane; Foerster, Toni M.; Usnich, Tatiana; Curado, Filipa; Brueggemann, Norbert; Paul, Jefri; Bogdanovic, Xenia; Zuelbahar, Selen; Olmedillas, Maria; Skobalj, Snezana; Ameziane, Najim; Bauer, Peter; Csoti, Ilona; Koleva-Alazeh, Natalia; Grittner, Ulrike; Westenberger, Ana; Kasten, Meike; Beetz, Christian; Klein, Christine; Rolfs, Arndt
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-08-2879
OAAI
Bertoli-Avella, Aida M.; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K.; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurascu, Marius-Ionut; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M.; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A.; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion
NATURE COMMUNICATIONS
IF15.7
2020-08-2737
OAAI
van Schie, Janne J. M.; Faramarz, Atiq; Balk, Jesper A.; Stewart, Grant S.; Cantelli, Erika; Oostra, Anneke B.; Rooimans, Martin A.; Parish, Joanna L.; de Almeida Esteves, Cynthia; Dumic, Katja; Barisic, Ingeborg; Diderich, Karin E. M.; van Slegtenhorst, Marjon A.; Mahtab, Mohammad; Pisani, Francesca M.; te Riele, Hein; Ameziane, Najim; Wolthuis, Rob M. F.; de Lange, Job

研究方向

暂未获取到该数据
H
Hans Joenje
H 指数:73论文数:325被引数:1.9万
P
Peter Bauer
H 指数:65论文数:483被引数:2.1万
M
Martin A. Rooimans
H 指数:33论文数:98被引数:5,439
C
Christian Beetz
H 指数:41论文数:220被引数:5,403
J
Josephine C. Dorsman
H 指数:29论文数:87被引数:4,390
A
Arndt Rolfs
H 指数:59论文数:653被引数:1.6万
A
Aida M. Bertoli‐Avella
H 指数:39论文数:164被引数:5,651
J
Johan P. de Winter
H 指数:48论文数:112被引数:9,347
R
Ruslan Al‐Ali
H 指数:10论文数:35被引数:823
A
Abdellatif Errami
H 指数:21论文数:53被引数:2,300