Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Rosenhahn, Erik (författare)

Institute of Human Genetics, University of Leipzig Medical Center, Germany

O'Brien, Thomas J. (författare)

MRC London Institute of Medical Sciences, United Kingdom

Zaki, Maha S. (författare)

Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

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Sorge, Ina (författare)

Department of Pediatric Radiology, University Hospital Leipzig, Germany

Wieczorek, Dagmar (författare)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany

Rostasy, Kevin (författare)

Department of Pediatric Neurology, Children's and Adolescents’ Hospital Datteln, Witten/Herdecke University, Germany

Vitobello, Antonio (författare)

UF6254 Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, FHU translad, Génétique des Anomalies du Développement, INSERM UMR 1231, Université de Bourgogne-Franche Comté, Dijon, France

Nambot, Sophie (författare)

Centre de Génétique et Centre de référence des Maladies rare, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, France

Alkuraya, Fowsan S. (författare)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Hashem, Mais O. (författare)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Alhashem, Amal (författare)

Karolinska Institutet

Tabarki, Brahim (författare)

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Alamri, Abdullah S. (författare)

Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia

Al Safar, Ayat H. (författare)

Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia

Bubshait, Dalal K. (författare)

Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia

Alahmady, Nada F. (författare)

Biology Department, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia

Gleeson, Joseph G. (författare)

Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA ; Rady Children’s Institute for Genomic Medicine, San Diego, La Jolla, CA, USA

Abdel-Hamid, Mohamed S. (författare)

Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

Lesko, Nicole (författare)

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden ; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden

Ygberg, Sofia (författare)

Karolinska Institutet

Correia, Sandrina P. (författare)

Karolinska Institutet

Wredenberg, Anna (författare)

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden ; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden

Alavi, Shahryar (författare)

Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Iran ; Palindrome, Isfahan, Iran

Seyedhassani, Seyed M. (författare)

Dr. Seyedhassani Medical Genetic Center, Yazd, Iran

Ebrahimi Nasab, Mahya (författare)

Dr. Seyedhassani Medical Genetic Center, Yazd, Iran

Hussien, Haytham (författare)

Alexandria University Children’s Hospital, Faculty of Medicine, Alexandria University, Egypt

Omar, Tarek E. I. (författare)

Alexandria University Children’s Hospital, Faculty of Medicine, Alexandria University, Egypt

Harzallah, Ines (författare)

Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, Saint-Étienne, France

Touraine, Renaud (författare)

Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, Saint-Étienne, France

Tajsharghi, Homa (författare)

Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin TRIM, Translational Medicine

Morsy, Heba (författare)

UCL Queen Square Institute of Neurology, University College London, UK

Houlden, Henry (författare)

UCL Queen Square Institute of Neurology, University College London, UK

Shahrooei, Mohammad (författare)

Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran ; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Belgium

Ghavideldarestani, Maryam (författare)

Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran

Abdel-Salam, Ghada M. H. (författare)

Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

Torella, Annalaura (författare)

Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy ; Telethon Institute of Genetics and Medicine, Naples, Italy

Zanobio, Mariateresa (författare)

Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy

Terrone, Gaetano (författare)

Child Neurology Unit, Department of Translational Medical Science, University of Naples Federico II, Naples, Italy

Brunetti-Pierri, Nicola (författare)

Telethon Institute of Genetics and Medicine, Naples, Italy ; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Italy

Omrani, Abdolmajid (författare)

Division of Clinical Studies, The Persian Gulf Nuclear Medicine Research Center, Bushehr University of Medical Sciences, Iran

Hentschel, Julia (författare)

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

Lemke, Johannes R. (författare)

Institute of Human Genetics, University of Leipzig Medical Center, Germany ; Center for Rare Diseases, University of Leipzig Medical Center, Germany

Sticht, Heinrich (författare)

Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany

Abou Jamra, Rami (författare)

Institute of Human Genetics, University of Leipzig Medical Center, Germany

Brown, Andre E. X. (författare)

MRC London Institute of Medical Sciences, UK ; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, UK ;

Maroofian, Reza (författare)

UCL Queen Square Institute of Neurology, University College London, UK

Platzer, Konrad (författare)

Institute of Human Genetics, University of Leipzig Medical Center, Germany

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 (creator_code:org_t)

Cell Press, 2022

2022

Engelska.

Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435

Relaterad länk:

https://doi.org/10.1...

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