Zifarelli Giovanni - Istituto di Biofisica, CNR

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Bi-allelic Pathogenic Variants in TRMT1 Disrupt Trna Modification and Induce a Neurodevelopmental Disorder

Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng,Sheng-Jia Lin,Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang,Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang,Cassidy Petree, Anna V Derrick, Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow,Grace Yoon, Michelle M Morrow, Deanna Alexis Carere, Mary O'Connor, Julie Fleischer, Erica H Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe,Semra Hiz Kurul,Didem Soydemir,Bulent Kara,Deniz Sunnetci-Akkoyunlu, Viktoria Bothe,Konrad Platzer,Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm, Sevcan Tuğ Bozdoğan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca, Sara Cabet,Zeynep Tümer, Tina D Hjortshøj,Gitte Rønde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani, Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung,Mohnish Suri,Paul J Benke,Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil I Yilmaz,Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour,Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau,Sophie Julia,Jawaher Zeighami, Saeed Ashoori,Gholamreza Shariati,Alireza Sedaghat, Alihossein Sabri,Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin,Uzma Abdullah,Shahid Mahmood Baig, Wendy K Chung, Olga O Glazunova,Sigaudy Sabine,Huma Arshad Cheema,Giovanni Zifarelli,Peter Bauer, Jai Sidpra,Kshitij Mankad,Barbara Vona, Andrew E Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu

American journal of human genetics（2025）

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Biallelic Variants in MRPL49 Cause Variable Clinical Presentations, Including Sensorineural Hearing Loss, Leukodystrophy, and Ovarian Insufficiency

Huw B Thomas,Leigh A M Demain,Alfredo Cabrera-Orefice,Isabelle Schrauwen,Hanan E Shamseldin,Alessandro Rea,Thashi Bharadwaj,Thomas B Smith,Monika Oláhová,Kyle Thompson,Langping He,Namanpreet Kaur,Anju Shukla,Musaad Abukhalid,Muhammad Ansar,Sakina Rehman,Saima Riazuddin,Firdous Abdulwahab,Janine M Smith,Zornitza Stark, Hanifenur Mancilar, Sait Tumer, Fatma N Esen, Eyyup Uctepe, Vehap Topcu, Ahmet Yesilyurt,Erum Afzal, Mehri Salari, Christopher Carroll,Giovanni Zifarelli, Peter Bauer, Deniz Kor, Fatma D Bulut, Henry Houlden, Reza Maroofian,Samantha Carrera,Wyatt W Yue,Kevin J Munro,Fowzan S Alkuraya, Peter Jamieson,Zubair M Ahmed,Suzanne M Leal,Robert W Taylor,Ilka Wittig,Raymond T O'Keefe,William G Newman

American journal of human geneticsno. 4 (2025): 952-962

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Elucidating the Clinical and Genetic Spectrum of Inositol Polyphosphate Phosphatase INPP4A-related Neurodevelopmental Disorder

Lettie E. Rawlins, Stuart J. Cannon,Muhannad Daana,Mina Zamani, Shamsul Ghani,Joseph S. Leslie,Nishanka Ubeyratna,Nasar Khan, Hamid Khan,Annarita Scardamaglia, Robin Cloarec, Shujaat Ali Khan, Muhammad Umair,Saeid Sadeghian,Hamid Galehdari,Almundher Al-Maawali,Adila Al-Kindi,Reza Azizimalamiri,Gholamreza Shariati, Faraz Ahmad,Amna Al-Futaisi, Pedro M. Rodriguez Cruz, Ainara Salazar-Villacorta, Moustapha Ndiaye,Amadou G. Diop, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid,Maha S. Zaki,Barbara Vona, Daniel Owrang, Abdullah M. Alhashem,Makram Obeid, Amjad Khan, Ahmad Beydoun,Marwan Najjar,Homa Tajsharghi,Giovanni Zifarelli, Peter Bauer, Wejdan S. Hakami, Amal M. Al Hashem, Rose-Mary N. Boustany, Lydie Burglen,Shahryar Alavi,Adam C. Gunning,Martina Owens,Ehsan G. Karimiani, Joseph G. Gleeson, Mathieu Milh,Somaya Salah, Jahangir Khan, Volker Haucke, Caroline F. Wright,Lucy Mcgavin,Orly Elpeleg, Muhammad I. Shabbir,Henry Houlden, Michael Ebner,Emma L. Baple,Andrew H. Crosby

GENETICS IN MEDICINEno. 2 (2025)

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Editorial: Intracellular Ion Channels in Health and Disease

Giovanni Zifarelli,Michael Pusch,Tobias Stauber

Frontiers in pharmacology (2024): 1430150-1430150

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Homozygous Variants in WDR83OS Lead to a Neurodevelopmental Disorder with Hypercholanemia

AMERICAN JOURNAL OF HUMAN GENETICSno. 11 (2024)

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Ultra-rare Neurodevelopmental Disorder with Degenerative Course and Progressivemovement Disorders Associated with Biallelic ZBTB11 Variants

Juan Dario Ortigoza-Escobar,Mina Zamani,Dorison Nathalie,Saeid Sadeghian,Reza Azizimalamiri,Hamid Galehdari,Gholamreza Shariati,Alihossein Saberi,Seyed MohammadSaleh Zahraei, Niloofar Chamanrou,Andres Moreno-De-Luca,Lisette Leeuwen,Giovanni Zifarelli,Peter Bauer, Vincent d'Hardemare,Lydie Burglen,Diane Doummar,Cynthia Curry,Henry Houlden,Reza Maroofian

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 191-192

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Biallelic NAA60 Variants with Impaired N-terminal Acetylation Capacity Cause Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M. Natalia Zanetti,Rauan Kaiyrzhanov,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V. Schottlaender,Heba Morsy,Annarita Scardamaglia,Ambreen Tariq,Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella,Nina Glomnes,Kirsten M. Brønstad,Sandrine Tury,Andrés Moreno De Luca,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim,Benjamin Cretin,Barbara Vona, Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller,Sahar I. Da’as,Khalid A. Fakhro,Alicia Gómez-Pascual,Juan A. Botía,Nicholas W. Wood,Rita Horvath,Andreas M. Ernst,James E. Rothman,Meriel McEntagart,Yanick J. Crow,Fowzan S. Alkuraya,Gaël Nicolas,Henry Houlden,Thomas Arnesen

NATURE COMMUNICATIONSno. 1 (2024)

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Biallelic Null Variants in PNPLA8 Cause Microcephaly by Reducing the Number of Basal Radial Glia

Yuji Nakamura,Issei S. Shimada,Reza Maroofian,Micol Falabella,Maha S. Zaki,Masanori Fujimoto,Emi Sato,Hiroshi Takase,Shiho Aoki,Akihiko Miyauchi,Eriko Koshimizu,Satoko Miyatake,Yuko Arioka,Mizuki Honda,Takayoshi Higashi,Fuyuki Miya,Yukimune Okubo,Isamu Ogawa,Annarita Scardamaglia,Mohammad Miryounesi,Sahar Alijanpour,Farzad Ahmadabadi,Peter Herkenrath,Hormos Salimi Dafsari,Clara Velmans,Mohammed Al Balwi,Antonio Vitobello,Anne-Sophie Denomme-Pichon,Mederic Jeanne, Antoine Civit,Mohamed S. Abdel-Hamid,Hamed Naderi,Hossein Darvish,Somayeh Bakhtiari,Michael C. Kruer,Christopher J. Carroll,Ehsan Ghayoor Karimiani,Rozhgar A. Khailany, Talib Adil Abdulqadir,Mehmet Ozaslan,Peter Bauer,Giovanni Zifarelli,Tahere Seifi,Mina Zamani,Chadi Al Alam,Javeria Raza Alvi,Tipu Sultan,Stephanie Efthymiou,Simon A. S. Pope,Kazuhiro Haginoya,Tamihide Matsunaga,Hitoshi Osaka,Naomichi Matsumoto,Norio Ozaki,Yasuyuki Ohkawa,Shinya Oki,Tatsuhiko Tsunoda,Robert D. S. Pitceathly,Yoshitaka Taketomi,Henry Houlden,Makoto Murakami,Yoichi Kato,Shinji Saitoh

Brain (2024)

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