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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

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Title: Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Authors: Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France., Ayed IB; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia., Hamed AA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohammed IN; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed MA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Bakhiet AM; Department of Psychiatry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Guillot-Noel L; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France., Abozar F; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Adil R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Emad S; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abubaker R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.; National University Biomedical Research Institute (NUBRI), National University, Khartoum, Sudan., Musallam MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Eltazi IZM; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Omer Z; Department of Hematology and Medical Oncology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA., Maaroof OM; Council of Diagnostic Radiology, Sudan Medical Specialization Board, Khartoum, Sudan., Soussi A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Bouzid A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Kmiha S; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Department of pediatrics, Hedi Chaker Hospital, Sfax, Tunisia., Kamoun H; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, AlMughtaribeen University, Khartoum, Sudan., Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, 11671, Saudi Arabia., Masmoudi S; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Stevanin G; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.
Source: Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 181-194. Date of Electronic Publication: 2022 Feb 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Yahia+A%22">Yahia A</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ayed+IB%22">Ayed IB</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Hamed+AA%22">Hamed AA</searchLink>; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Mohammed+IN%22">Mohammed IN</searchLink>; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Elseed+MA%22">Elseed MA</searchLink>; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Bakhiet+AM%22">Bakhiet AM</searchLink>; Department of Psychiatry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Guillot-Noel+L%22">Guillot-Noel L</searchLink>; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abozar+F%22">Abozar F</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Adil+R%22">Adil R</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Emad+S%22">Emad S</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Abubaker+R%22">Abubaker R</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.; National University Biomedical Research Institute (NUBRI), National University, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Musallam+MA%22">Musallam MA</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Eltazi+IZM%22">Eltazi IZM</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Omer+Z%22">Omer Z</searchLink>; Department of Hematology and Medical Oncology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Maaroof+OM%22">Maaroof OM</searchLink>; Council of Diagnostic Radiology, Sudan Medical Specialization Board, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Soussi+A%22">Soussi A</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Bouzid+A%22">Bouzid A</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kmiha+S%22">Kmiha S</searchLink>; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Department of pediatrics, Hedi Chaker Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kamoun+H%22">Kamoun H</searchLink>; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Salih+MA%22">Salih MA</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, AlMughtaribeen University, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Ahmed+AE%22">Ahmed AE</searchLink>; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Elsayed+L%22">Elsayed L</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, 11671, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Masmoudi+S%22">Masmoudi S</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%220416661%22">Annals of human genetics</searchLink> [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 181-194. <i>Date of Electronic Publication: </i>2022 Feb 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0416661 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1469-1809 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200034800%22">00034800 </searchLink><i>NLM ISO Abbreviation: </i>Ann Hum Genet <i>Subsets: </i>MEDLINE
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