Fatima Rahman - The Children’s Hospital, The Institute of Child Health

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Papers共 31 篇Author StatisticsCo-AuthorSimilar Experts

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Molecular and Computational Analysis of a Novel Pathogenic Variant in Emopamil-Binding Protein (EBP) Involved in Cholesterol Biosynthetic Pathway Causing a Rare Male EBP Disorder with Neurologic Defects (MEND Syndrome)

Hadiba Bibi, Riaz Ahmad,Fatima Rahman,Shazia Maqbool,Muhammad Naeem,Stephanie Efthymiou,Henry Houlden

Molecular Biology Reports（2025）

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Clinical and Genetic Characterization of a Progressive RBL2-associated Neurodevelopmental Disorder

Gabriel N Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamenta,Zafar Ali,Uzma Abdulllah,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri,Emmanuel Roze,Mohammed Aguennouz,Zouiri Ghizlane,Saadia Maryam Saadi,Ambrin Fatima,Huma Arshad Cheema,Muhammad Nadeem Anjum,Godelieve Morel,Stephanie Robin,Robert McFarland,Umut Altunoglu,Verena Kraus,Moneef Shoukier,David Murphy, Kristina Flemming,Hilde Yttervik,Hajar Rhouda,Gaetan Lesca,Nicolas Chatron,Massimiliano Rossi,Bibi Nazia Murtaza,Mujaddad Ur Rehman,Jenny Lord,Edoardo Giacopuzzi,Azam Hayat, Muhammad Siraj, Reza Shervin Badv,Go Hun Seo,Christian Beetz,Hülya Kayserili, Yamna Krioulie, Wendy K Chung,Sadaf Naz,Shazia Maqbool,Kate E Chandler,Christopher J Kershaw,Thomas Wright,Siddharth Banka,Joseph G Gleeson, Jenny C Taylor,Stephanie Efthymiou,Shahid Mahmood Baig,Mariasavina Severino,James E C Jepson,Henry Houlden

Brain a journal of neurologyno. 4 (2025): 1194-1211

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SLK is Mutated in Individuals with a Neurodevelopmental Disorder

Lama Alabdi, Norah Altuwaijri, Jun-Yi Zhu,Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah,Fatema Alzahrani, Qing Xu, Mashael M Felemban,Abdullah Alfaifi,Fatima Rahman, Marilena Christoforou,Shazia Maqbool, Julian A Martinez-Agosto, Hessa S Alsaif,Mais Hashem, Rana Helaby, Ahood Alsulaiman, SYNaPS Study Group, Queen Square Genomics,Reza Maroofian,Henry Houlden,Stefan T Arold, Leena A Ibrahim, Zhe Han, Fowzan S Alkuraya

EBioMedicine (2025): 105725-105725

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TRAPPC6B Biallelic Variants Cause a Neurodevelopmental Disorder with TRAPP II and Trafficking Disruptions

Hashem Almousa,Sara A. Lewis,Somayeh Bakhtiari, Sandra Hinz Nordlie,Alex Pagnozzi,Helen Magee,Stephanie Efthymiou,Jennifer A. Heim,Patricia Cornejo,Maha S. Zaki,Najwa Anwar,Shazia Maqbool,Fatima Rahman,Derek E. Neilson,Anusha Vemuri,Sheng Chih Jin,Xiao-Ru Yang,Abolfazl Heidari,Koen van Gassen,Aurelien Trimouille,Christel Thauvin-Robinet,James Liu,Ange-Line Bruel,Hoda Tomoum,Mennatallah O. Shata,Mais O. Hashem,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Gozde Yesil,Lokesh Lingappa,Debangana Baruah,Farnoosh Ebrahimzadeh,Julien Van-Gils,Laurence Faivre,Mina Zamani,Hamid Galehdari,Saeid Sadeghian,Gholamreza Shariati, Rahema Mohammad,Jasper van der Smagt,Alya Qari,John B. Vincent,A. Micheil Innes,Ali Dursun,R. Koksal Ozgul,Halil Tuna Akar,Kaya Bilguvar,Cyril Mignot,Boris Keren, Claudia Raveli,Lydie Burglen,Alexandra Afenjar,Laura Donker Kaat,Marjon van Slegtenhorst,Fowzan Alkuraya,Henry Houlden,Sergio Padilla-Lopez,Reza Maroofian,Michael Sacher,Michael C. Kruer

BRAINno. 1 (2024): 311-324

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Clinical and Neurogenetic Characterisation of Autosomal Recessive RBL2-associated Progressive Neurodevelopmental Disorder

medRxiv the preprint server for health sciences (2024)

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The Clinical and Genetic Spectrum of Inherited Glycosylphosphatidylinositol Deficiency Disorders

Jai Sidpra,Sniya Sudhakar,Asthik Biswas,Flavia Massey,Valentina Turchetti,Tracy Lau,Edward Cook,Javeria Raza Alvi,Hasnaa M. Elbendary, Jerry L. Jewell,Antonella Riva,Alessandro Orsini,Aglaia Vignoli,Zara Federico,Jessica Rosenblum,An-Sofie Schoonjans,Matthias de Wachter,Ignacio Delgado Alvarez,Ana Felipe-Rucian,Nourelhoda A. Haridy,Shahzad Haider,Mashaya Zaman,Selina Banu, Najwa Anwaar,Fatima Rahman,Shazia Maqbool, Rashmi Yadav,Vincenzo Salpietro,Reza Maroofian,Rajan Patel,Rupa Radhakrishnan,Sanjay P. Prabhu,Klaske Lichtenbelt,Helen Stewart,Yoshiko Murakami,Ulrike Lobel,Felice D'Arco,Emma Wakeling,Wendy Jones,Eleanor Hay,Sanjay Bhate,Thomas S. Jacques,David M. Mirsky,Matthew T. Whitehead,Maha S. Zaki,Tipu Sultan,Pasquale Striano,Anna C. Jansen,Maarten Lequin,Linda S. de Vries,Mariasavina Severino,Andrew C. Edmondson,Lara Menzies,Philippe M. Campeau,Henry Houlden,Amy McTague,Stephanie Efthymiou,Kshitij Mankad

BRAINno. 8 (2024): 2775-2790

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Bi-allelic MYMX Variants Cause a Syndromic Congenital Myopathy with Recognizable Facial Palsy, Growth Restriction, and Dysmorphism

Fatima Rahman,Luisa Marsili,Domizia Pasquetti,Aboulfazl Rad,Muhammad Nadeem Anjum,Gabriela Oprea,Huma Arshad Cheema,Barbara Vona,Cesar Augusto Alves,Henry Houlden,Shazia Maqbool,Stephanie Efthymiou,Thomas Smol,Reza Maroofian

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Parenting Practices and Aggression in Childhood Behaviour Disorders

Fatima Rahman,Shazia Maqbool,Anam Ali, Talha Mahmud,Hina Azhar,Aisha Farid

Pakistan Armed Forces Medical Journalno. 1 (2023): 74-78

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Gain and Loss of Function Variants in EZH1 Disrupt Neurogenesis and Cause Dominant and Recessive Neurodevelopmental Disorders

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang,Reza Maroofian,Paula Espana-Bonilla,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A. Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E. Sheppard,Paul Mark,Margaret H. Harr,Hakon Hakonarson,Lance Rodan,Adam Jackson,Pradeep Vasudevan, Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A. Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman,Shazia Maqbool,Vincenzo Salpietro,Shahnaz H. Ibrahim,Gabriella di Rosa,Henry Houlden, Maha Nasser Alharbi,Nouriya Abbas Al-Sannaa,Peter Bauer,Giovanni Zifarelli,Conchi Estaras,Anna C. E. Hurst,Michelle L. Thompson,Anna Chassevent,Constance L. Smith-Hicks,Xavier de la Cruz,Alexander M. Holtz,Houda Zghal Elloumi,M J Hajianpour,Claudine Rieubland,Dominique Braun,Siddharth Banka,J. C. Ambrose,Deborah L. French,Elizabeth A. Heller,Murielle Saade,Hongjun Song,Guo-li Ming,Fowzan S. Alkuraya,Pankaj B. Agrawal,Danny Reinberg,Elizabeth J. Bhoj,Marian A. Martínez-Balbás,Naiara Akizu

Nature Communicationsno. 1 (2023)

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