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ArticlesPeer ReviewedFull Text
DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies
Author / Creator:Schwalbe, Edward C. ; Williamson, Daniel ; Lindsey, Janet C. ; Hamilton, Dolores ; Ryan, Sarra L. ; Megahed, Hisham ; Garami, Miklós ; Hauser, Peter ; Dembowska-Baginska, Bożena ; Perek, Danuta ; Northcott, Paul A. ; Taylor, Michael D. ; Taylor, Roger E. ; Ellison, David W. ; Bailey, Simon ; Clifford, Steven C.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2013-03, Vol.125 (3), p.359-371
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ArticlesPeer ReviewedFull Text
Association of GSTP1 p.Ile105Val (rs1695, c.313A > G) Variant with the Risk of Breast Carcinoma among Egyptian Women
Author / Creator:Youssef, Magdy M. ; Elsaid, Afaf M. ; El-Saeed, Rasha A. ; Mukhlif, Riyadh T. ; Megahed, Hisham ; Al-Alawy, Adel I. ; Elshazli, Rami M.
Publisher:New York: Springer US
Journal title:Biochemical genetics, 2021-12, Vol.59 (6), p.1487-1505
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ArticlesPeer ReviewedFull Text
MYC family amplification and clinical risk-factors interact to predict an extremely poor prognosis in childhood medulloblastoma
Author / Creator:Ryan, Sarra L. ; Schwalbe, Ed C. ; Cole, Michael ; Lu, Yuan ; Lusher, Meryl E. ; Megahed, Hisham ; O’Toole, Kieran ; Nicholson, Sarah Leigh ; Bognar, Laszlo ; Garami, Miklos ; Hauser, Peter ; Korshunov, Andrey ; Pfister, Stefan M. ; Williamson, Daniel ; Taylor, Roger E. ; Ellison, David W. ; Bailey, Simon ; Clifford, Steven C.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2012-04, Vol.123 (4), p.501-513
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ArticlesPeer ReviewedFull Text
Chemerin: An exploitable biomarker for familial Mediterranean fever in Egyptian patients
Author / Creator:Bassyouni, Hala T. El ; Megahed, Hisham ; Youness, Eman R ; Orban, Hisham A. Aziz ; Kobesiy, Maha M ; Ellethy, Rania A ; Girgiss, Mina Wassef ; Ashour, Adel Mohamed ; Sayed, Ahmed Helal El ; Zaki, Moushira E
Publisher:Auckland, New Zealand: New Zealand Institute of Medical Laboratory Science
Journal title:New Zealand journal of medical laboratory science, 2023-11, Vol.77 (3), p.114-118
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ArticlesPeer ReviewedFull Text
Biallelic loss of EMC10 leads to mild to severe intellectual disability
Author / Creator:Kaiyrzhanov, Rauan ; Rocca, Clarissa ; Suri, Mohnish ; Gulieva, Sughra ; Zaki, Maha S. ; Henig, Noa Z. ; Siquier, Karine ; Guliyeva, Ulviyya ; Mounir, Samir M. ; Marom, Daphna ; Allahverdiyeva, Aynur ; Megahed, Hisham ; Bokhoven, Hans ; Cantagrel, Vincent ; Rad, Aboulfazl ; Pourkeramti, Alemeh ; Dehghani, Boshra ; Shao, Diane D. ; Markus‐Bustani, Keren ; Sofrin‐Drucker, Efrat ; Orenstein, Naama ; Salayev, Kamran ; Arrigoni, Filippo ; Houlden, Henry ; Maroofian, Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1080-1089
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ArticlesPeer ReviewedFull Text
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
Author / Creator:Mekkawy, Mona K. ; Kamel, Alaa K. ; Thomas, Manal M. ; Ashaat, Engy A. ; Zaki, Maha S. ; Eid, Ola M. ; Ismail, Samira ; Hammad, Saida A. ; Megahed, Hisham ; ElAwady, Heba ; Refaat, Khaled M. ; Hussien, Shymaa ; Helmy, Nivine ; Abd Allah, Sally G. ; Mohamed, Amal M. ; El Ruby, Mona O.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1546-n/a
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ArticlesPeer ReviewedFull Text
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Author / Creator:Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay ; Al-Sanaa, Nouriya ; Al-Abdulwahed, Hind Y. ; Kaymakçalan, Hande ; Yılmaz, Cahide ; Zaki, Maha S. ; Rosti, Rasim O. ; Copeland, Brett ; Baek, Seung Tae ; Musaev, Damir ; Scott, Eric C. ; Ben-Omran, Tawfeg ; Kariminejad, Ariana ; Kayserili, Hulya ; Mojahedi, Faezeh ; Kara, Majdi ; Cai, Na ; Silhavy, Jennifer L. ; Elsharif, Seham ; Fenercioglu, Elif ; Barshop, Bruce A. ; Kara, Bulent ; Wang, Rengang ; Stanley, Valentina ; James, Kiely N. ; Nachnani, Rahul ; Kalur, Aneesha ; Megahed, Hisham ; Incecik, Faruk ; Danda, Sumita ; Alanay, Yasemin ; Faqeih, Eissa ; Melikishvili, Gia ; Mansour, Lobna ; Miller, Ian ; Sukhudyan, Biayna ; Chelly, Jamel ; Dobyns, William B. ; Bilguvar, Kaya ; Jamra, Rami Abou ; Gunel, Murat ; Gleeson, Joseph G.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-08, Vol.50 (8), p.1093-1101
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ArticlesPeer ReviewedFull Text
Autism spectrum disorder and achondroplasia in an Egyptian patient
Author / Creator:Ismail, Samira ; Megahed, Hisham ; Ismail, Somaya ; Hindawy, Amina
Publisher:Wolters Kluwer India Pvt. Ltd
Journal title:Middle East Journal of Medical Genetics, 2021-07, Vol.10 (2), p.101-104
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ArticlesPeer ReviewedFull Text
Fragile X syndrome clinical and associated comorbidities
Author / Creator:Megahed, Hisham ; Shaheen, Ola ; Hamza, Hala ; Refeat, Miral
Publisher:Wolters Kluwer India Pvt. Ltd
Journal title:Middle East Journal of Medical Genetics, 2021-01, Vol.10 (1), p.16-23
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ArticlesPeer ReviewedFull Text
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.57-57, Article 57
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ArticlesPeer ReviewedFull Text
Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration
Author / Creator:Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay ; Al-Sanaa, Nouriya ; Al-Abdulwahed, Hind Y. ; Kaymakçalan, Hande ; Yılmaz, Cahide ; Zaki, Maha S. ; Rosti, Rasim O. ; Copeland, Brett ; Baek, Seung Tae ; Musaev, Damir ; Scott, Eric C. ; Ben-Omran, Tawfeg ; Kariminejad, Ariana ; Kayserili, Hulya ; Mojahedi, Faezeh ; Kara, Majdi ; Cai, Na ; Silhavy, Jennifer L. ; Elsharif, Seham ; Fenercioglu, Elif ; Barshop, Bruce A. ; Kara, Bulent ; Wang, Rengang ; Stanley, Valentina ; James, Kiely N. ; Nachnani, Rahul ; Kalur, Aneesha ; Megahed, Hisham ; Incecik, Faruk ; Danda, Sumita ; Alanay, Yasemin ; Faqeih, Eissa ; Melikishvili, Gia ; Mansour, Lobna ; Miller, Ian ; Sukhudyan, Biayna ; Chelly, Jamel ; Dobyns, William B. ; Bilguvar, Kaya ; Jamra, Rami Abou ; Gunel, Murat ; Gleeson, Joseph G.
Journal title:Nature genetics, 2018-07, Vol.50 (8), p.1093-1101
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ArticlesPeer ReviewedFull Text
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families
Author / Creator:Megahed, Hisham ; Ismail, Samira ; Aglan, Mona ; Temtamy, Samia ; Abulnasr, Ahmed ; Ashaat, Engy ; Otaify, Ghada ; Elhossini, Rasha ; Abdel-Ghafar, Sherif ; Abdel-Hamid, Mohamed
Publisher:Wolters Kluwer India Pvt. Ltd
Journal title:Middle East Journal of Medical Genetics, 2020-07, Vol.9 (2), p.60-65
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ArticlesPeer ReviewedFull Text
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:BioMed Central
Journal title:Orphanet journal of rare diseases, 2015-12, Vol.11 (1)
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ArticlesPeer ReviewedFull Text
DNA methylation profiling of medulloblastoma allows robust sub-classification and improved outcome prediction using formalin-fixed biopsies
Author / Creator:Schwalbe, Edward C. ; Williamson, Daniel ; Lindsey, Janet C. ; Hamilton, Dolores ; Ryan, Sarra L. ; Megahed, Hisham ; Garami, Miklos ; Hauser, Peter ; Dembowska-Baginska, Bozena ; Perek, Danuta ; Northcott, Paul A. ; Taylor, Michael D. ; Taylor, Roger E. ; Ellison, David W. ; Bailey, Simon ; Clifford, Steven C.
Journal title:Acta neuropathologica, 2013-01, Vol.125 (3), p.359-371
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Access ebook if you are in the Library. Registered NSW residents may log in from home.

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DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies

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Association of GSTP1 p.Ile105Val (rs1695, c.313A > G) Variant with the Risk of Breast Carcinoma among Egyptian Women

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MYC family amplification and clinical risk-factors interact to predict an extremely poor prognosis in childhood medulloblastoma

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Chemerin: An exploitable biomarker for familial Mediterranean fever in Egyptian patients

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Biallelic loss of EMC10 leads to mild to severe intellectual disability

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Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

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Autism spectrum disorder and achondroplasia in an Egyptian patient

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Fragile X syndrome clinical and associated comorbidities

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

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Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

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DNA methylation profiling of medulloblastoma allows robust sub-classification and improved outcome prediction using formalin-fixed biopsies

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