Muna Al Saffar - Department of Medicine Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, United Arab Emirates University

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Bio

Muna Al Saffar currently works at the UAE university but she is affiliated with the Manton Center of Orphan Disease Research , Boston Children's Hospital. Muna does research in Genetics, Neuroscience and Immunology. Their most recent publication is 'PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features'.

Research Interests

Papers共 25 篇Author StatisticsCo-AuthorSimilar Experts

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

JAMA NEUROLOGYno. 9 (2023): 980-988

Cited14Views0WOSBibtex

PSMD12 Haploinsufficiency in a Neurodevelopmental Disorder with Autistic Features

Raida Khalil,Connor Kenny,R. Sean Hill,Ganeshwaran H. Mochida,Ramzi Nasir,Jennifer N. Partlow,Brenda J. Barry,Muna Al-Saffar, Chloe Egan,Christine R. Stevens,Stacey B. Gabriel,A. James Barkovich,Jay W. Ellison,Lihadh Al-Gazali,Christopher A. Walsh,Maria H. Chahrour

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS（2018）

Cited29Views0WOSBibtex

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven,Dervla M. Connaughton,Hadas Ityel,Nina Mann,Makiko Nakayama,Jing Chen,Asaf Vivante,Daw-yang Hwang,Julian Schulz,Daniela A. Braun,Johanna Magdalena Schmidt,David Schapiro,Ronen Schneider,Jillian K. Warejko,Ankana Daga,Amar J. Majmundar,Weizhen Tan,Tilman Jobst-Schwan,Tobias Hermle,Eugen Widmeier,Shazia Ashraf,Ali Amar,Charlotte A. Hoogstraaten,Hannah Hugo,Thomas M. Kitzler,Franziska Kause,Caroline M. Kolvenbach,Rufeng Dai,Leslie Spaneas,Kassaundra Amann,Deborah R. Stein,Michelle A. Baum,Michael J. G. Somers,Nancy M. Rodig,Michael A. Ferguson,Avram Z. Traum,Ghaleb H. Daouk,Radovan Bogdanovic,Natasa Stajic,Neveen A. Soliman,Jameela A. Kari,Sherif El Desoky,Hanan M. Fathy,Danko Milosevic,Muna Al-Saffar,Hazem S. Awad,Loai A. Eid, Aravind Selvin,Prabha Senguttuvan,Simone Sanna-Cherchi,Heidi L. Rehm,Daniel G. MacArthur,Monkol Lek,Kristen M. Laricchia,Michael W. Wilson,Shrikant M. Mane,Richard P. Lifton,Richard S. Lee,Stuart B. Bauer,Weining Lu,Heiko M. Reutter,Velibor Tasic,Shirlee Shril,Friedhelm Hildebrandt

Journal of the American Society of Nephrologyno. 9 (2018): 2348-2361

Cited154Views0WOSBibtex

154

Genomic and Phenotypic Delineation of Congenital Microcephaly

Genetics in Medicine（2018）

Cited91Views0WOSBibtex

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