Novel clinical and genetic insight into CXorf56-associated intellectual disability

od 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.
izdano v Eur J Hum Genet (2019)

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

od 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.
izdano v J Am Soc Nephrol (2021)

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

od 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
izdano v NPJ Genom Med (2020)

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

od 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, Iurașcu, Marius-Ionuț, 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
izdano v Eur J Hum Genet (2020)

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

od Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.
izdano v Am J Hum Genet (2019)