Reply letter to Battke et al.

per Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Bauer, Peter
Publicat a Eur J Hum Genet (2021)

A comprehensive global genotype–phenotype database for rare diseases

per Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt
Publicat a Mol Genet Genomic Med (2016)

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

per Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.
Publicat 2009

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

per Punzo, Francesca, Bertoli-Avella, Aida M, Scianguetta, Saverio, Della Ragione, Fulvio, Casale, Maddalena, Ronzoni, Luisa, Cappellini, Maria D, Forni, Gianluca, Oostra, Ben A, Perrotta, Silverio
Publicat 2011

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

per Conte, Maria Luisa, Bertoli-Avella, Aida M., de Graaf, Bianca M., Punzo, Francesca, Lama, Giuliana, La Manna, Angela, Grassia, Carolina, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Publicat 2008

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

per Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Publicat 2011

Novel clinical and genetic insight into CXorf56-associated intellectual disability

per Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.
Publicat a Eur J Hum Genet (2019)

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

per Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma, Ishwar C.
Publicat a J Am Soc Nephrol (2021)

ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

per Bertoli-Avella, Aida M., Conte, Maria Luisa, Punzo, Francesca, de Graaf, Bianca M., Lama, Giuliana, La Manna, Angela, Polito, Cesare, Grassia, Carolina, Nobili, Bruno, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Publicat 2008

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

per Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E. R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt
Publicat a Genet Med (2018)

Identification of RNA binding motif proteins essential for cardiovascular development

per Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S
Publicat 2011

A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

per Liu, Fan , Arias-Vásquez, Alejandro , Sleegers, Kristel , Aulchenko, Yurii S. , Kayser, Manfred , Sanchez-Juan, Pascual , Feng, Bing-Jian , Bertoli-Avella, Aida M. , van Swieten, John , Axenovich, Tatiana I. , Heutink, Peter , van Broeckhoven, Christine , Oostra, Ben A. , van Duijn, Cornelia M. 
Publicat 2007

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

per Vegt, Rinus, Bertoli-Avella, Aida M, Tulen, Joke H M, de Graaf, Bianca, Verkerk, Annemieke J M H, Vervoort, Jeroen, Twigt, Carla M, Maat-Kievit, Anneke, van Tuijl, Ruud, van der Lijn, Marieke, Hengeveld, Michiel W, Oostra, Ben A
Publicat 2010

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms

per Regalado, Ellen S., Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L., Leal, Suzanne M., Bertoli-Avella, Aida M., Shendure, Jay, Rieder, Mark J., Nickerson, Deborah A, Milewicz, Dianna M.
Publicat 2011

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

per Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal
Publicat a Front Genet (2019)

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

per Bertoli-Avella, Aida M., Garcia-Aznar, Jose M., Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham, Marafi, Makia J., Al-Mulla, Fahd, Al-Sannaa, Nouriya, Rolfs, Arndt, Bauer, Peter
Publicat a Eur J Hum Genet (2018)

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

per Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt
Publicat a NPJ Genom Med (2020)

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

per Brooks, Alice S. , Bertoli-Avella, Aida M. , Burzynski, Grzegorz M. , Breedveld, Guido J. , Osinga, Jan , Boven, Ludolf G. , Hurst, Jane A. , Mancini, Grazia M. S. , Lequin, Maarten H. , de Coo, Rene F. , Matera, Ivana , de Graaff, Esther , Meijers, Carel , Willems, Patrick J. , Tibboel, Dick , Oostra, Ben A. , Hofstra, Robert M. W. 
Publicat 2005

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

per Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Publicat 2009

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

per Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicat a Eur J Hum Genet (2017)