Aida Maria Bertoli-Avella (Aida M Bertoli-Avella, Aida Bertoli-Avella)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 37

Top Venues

Clinical genetics

European journal of human genetics : EJHG

Nature communications

medRxiv : the preprint server for health sciences

Erasmus MC

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Erasmus MC Apr 01 2000 - Dec 31 2014

Netherlands

Principal investigator :: Clinical Genetics

Publications

Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics (2024)
Harvy Mauricio Velasco, Aida Maria Bertoli-Avella, Carolina Jaramillo Jaramillo, Danny Styvens Cardona, Leonel Andrés González, Melisa Naranjo Vanegas, Juan Pablo Valencia Arango, Cesar Augusto Buitrago, Jorge Alberto Gutiérrez González, Jonas Marcello, Peter Bauer, Juliana Espinosa Moncada
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases. European journal of human genetics : EJHG (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society 38 (3) (2023)
Pilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, Sabine Schroeder, Deepthi Vagiri, Ligia S Almeida, Carlos Juaristi, Heba Hosny, Clarice C Y Loh, Anika Leubauer, Galina Torres Morales, Sebastian Oppermann, Marius-Ionuț Iurașcu, Steffen Fischer, Tara-Marisa Steinicke, Nikenza Viceconte, Claudia Cozma, Krishna Kumar Kandaswamy, Jorge Pinto Basto, Tobias Böttcher, Peter Bauer, Aida Maria Bertoli-Avella
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years. European journal of human genetics : EJHG (2023)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society 38 (3) (2023)
Fatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, Alice Gardham, Emma Wakeling, Harry G Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frederic M Vaz, Aida Maria Bertoli-Avella, Dana Marafi
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. Molecular genetics & genomic medicine (2023)
Luba M Pardo, Ruxandra Aanicai, Emir Zonic, Anna H Hakonen, Susan Zielske, Peter Bauer, Aida Maria Bertoli-Avella
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia. Clinical genetics (2023)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society (2023)
Elisa J Rahikkala, Lea Urpa, Bishwa R Ghimire, Hande Topa, Mitja I Kurki, Maryna Koskela, Mikko Airavaara, Eija Hämäläinen, Katri Pylkäs, Jarmo Körkkö, Helena Savolainen, Anu Suoranta, Aida Maria Bertoli-Avella, Arndt Rolfs, Pirkko Mattila, Mark Daly, Aarno Palotie, Olli Pietiläinen, Jukka S Moilanen, Outi Kuismin
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. European journal of human genetics : EJHG 30 (5) (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Minna Kraatari, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B Toosi, Christopher J Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida Maria Bertoli-Avella, Peppi Karppinen, Elisa J Rahikkala
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clinical genetics 102 (5) (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzi, Tania C L S Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sana Iftikhar, Eresha Jasinge, Solaf M Elsayed, Hoda Tomoum, Iman Marzouk, Anil B Jalan, Agne Cerkauskaite, Rimante Cerkauskiene, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, Mona Kamel, Laila Abdel Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto-Basto, Aida Maria Bertoli-Avella, Peter Bauer
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. European journal of human genetics : EJHG 30 (9) (2022)
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stephane Bezieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A Kripps, Shareef A Nahas, Eric P Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida Maria Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature genetics 54 (8) (2022)
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali AlGhamdi, Jozef L Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida Maria Bertoli-Avella, Peter Bauer
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clinical genetics 99 (4) (2021)
Juliette Dupont, José Pedro Vieira, Ana Lisa Taylor Tavares, Carla Ribeiro Conceição, Suliman Khan, Aida Maria Bertoli-Avella, Ana Berta Sousa
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. Clinical genetics 99 (4) (2021)
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, Mariam Al-Hilali, Homoud Al Hebby, Fahad Alabbas, Amal M Alhashem, Ghaleb Elyamany, Andre Megarbane, Melis Kose, Nadia Alhashmi, Nashat Al Sukaiti, Mohammed Al-Raqad, Samah Al-Tawalbeh, Omar Abu Adas Blanco, Fadiah Alkhattabi, Danielle Sng, Ruslan Al-Ali, Suliman Khan, Hasan Tawamie, Kornelia Tripolszki, Vasiliki Karageorgou, Roberta Trunzo, Fuad Al Mutairi, Bruno Reversade, Peter Bauer, Aida Maria Bertoli-Avella
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clinical genetics (2021)
Aida Maria Bertoli-Avella, Christian Beetz, Najim Ameziane, Peter Bauer
Reply letter to Battke et al. European journal of human genetics : EJHG 29 (5) (2021)
Tom Le Voyer, Anna-Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain, Fayhan Alroqi, Maha Alshalan, Philippe Lepage, Fatima Al Ali, Taushif Khan, Manar Mahmoud Ahmad Ata, Laurence Rozen, Anne Demulder, Paul Bastard, Conor Gruber, Manon Roynard, Yoann Seeleuthener, Franck Rapaport, Benedetta Bigio, Maya Chrabieh, Danielle Sng, Laureline Berteloot, Nathalie Boddaert, Flore Rozenberg, Saleh Al-Muhsen, Aida Maria Bertoli-Avella, Laurent Abel, Dusan Bogunovic, Nico Marr, Davood Mansouri, Fuad Al Mutairi, Vivien Béziat, Dominique Weil, Seyed Alireza Mahdaviani, Alina Ferster, Shen-Ying Zhang, Bruno Reversade, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proceedings of the National Academy of Sciences of the United States of America 118 (15) (2021)
Aida Maria Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene. Journal of medical genetics 59 (10) (2021)
Aida Maria Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, Natalia Ordonez-Herrera, Kornelia Tripolszki, Christian Beetz, Maria Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al-Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed A Albalwi, Abdulrahman Faiz Alswaid, Zuhair N Al-Hassnan, Malak Ali Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al-Gazali, Huma Cheema, Maha S Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S Alkuraya, Nouriya Abbas Al-Sannaa, Aisha M AlShamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 23 (8) (2021)
Huma Cheema, Aida Maria Bertoli-Avella, Volha Skrahina, Muhammad Nadeem Anjum, Nadia Waheed, Anjum Saeed, Christian Beetz, Jordi Perez-Lopez, Maria Eugenia Rocha, Salem Alawbathani, Catarina Pereira, Marina Hovakimyan, Irene Rosita Pia Patric, Omid Paknia, Najim Ameziane, Claudia Cozma, Peter Bauer, Arndt Rolfs
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. NPJ genomic medicine 5 (2020)
Kornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, Abdul Halim Kassim, Catarina Pereira, Arndt Rolfs, Peter Bauer, William Reardon, Aida Maria Bertoli-Avella
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clinical genetics 99 (2) (2020)
Huma Cheema, Aida Maria Bertoli-Avella, Volha Skrahina, Muhammad Nadeem Anjum, Nadia Waheed, Anjum Saeed, Christian Beetz, Jordi Perez-Lopez, Maria Eugenia Rocha, Salem Alawbathani, Catarina Pereira, Marina Hovakimyan, Irene Rosita Pia Patric, Omid Paknia, Najim Ameziane, Claudia Cozma, Peter Bauer, Arndt Rolfs
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. NPJ genomic medicine 5 (1) (2020)
Salam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, Fahad Alhabshan, Natalia Ordonez, Salem Alawbathani, Suliman Khan, Mohamed S Kabbani, Farah Chaikhouni, Atia Sheereen, Iman Almohammed, Bader Alghamdi, Ingrid Frohn-Mulder, Salim Ahmad, Christian Beetz, Peter Bauer, Marja W Wessels, Manal Alaamery, Aida Maria Bertoli-Avella
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Clinical genetics 98 (1) (2020)
Aida Maria Bertoli-Avella, Christian Beetz, Najim Ameziane, Maria Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego-Alvarez, Michal Zawada, Krishna K Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius-Ionuț Iurașcu, Claudia Cozma, Florian Vogel, Amal M Alhashem, Jozef Hertecant, Aisha M Al-Shamsi, Abdulrahman Faiz Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed A Al Balwi, Majid Alfadhel, Nouriya Abbas Al-Sannaa, Willie Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. European journal of human genetics : EJHG 29 (1) (2020)

Aida Maria Bertoli-Avella.css-eqlu8i{font-size:small;padding-left:4px;} (Aida M Bertoli-Avella, Aida Bertoli-Avella)

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Aida Maria Bertoli-Avella (Aida M Bertoli-Avella, Aida Bertoli-Avella)