Bubshait DK

References (3)

Title : Autozygome and high throughput confirmation of disease genes candidacy - Maddirevula_2019_Genet.Med_21_736
Author(s) : Maddirevula S , Alzahrani F , Al-Owain M , Al Muhaizea MA , Kayyali HR , AlHashem A , Rahbeeni Z , Al-Otaibi M , Alzaidan HI , Balobaid A , El Khashab HY , Bubshait DK , Faden M , Yamani SA , Dabbagh O , Al-Mureikhi M , Jasser AA , Alsaif HS , Alluhaydan I , Seidahmed MZ , Alabbasi BH , Almogarri I , Kurdi W , Akleh H , Qari A , Al Tala SM , Alhomaidi S , Kentab AY , Salih MA , Chedrawi A , Alameer S , Tabarki B , Shamseldin HE , Patel N , Ibrahim N , Abdulwahab F , Samira M , Goljan E , Abouelhoda M , Meyer BF , Hashem M , Shaheen R , AlShahwan S , Alfadhel M , Ben-Omran T , Al-Qattan MM , Monies D , Alkuraya FS
Ref : Genet Med , 21 :736 , 2019
Abstract :
PubMedSearch : Maddirevula_2019_Genet.Med_21_736
PubMedID: 30237576

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families - Shamseldin_2015_Genome.Biol_16_116
Author(s) : Shamseldin HE , Tulbah M , Kurdi W , Nemer M , Alsahan N , Al Mardawi E , Khalifa O , Hashem A , Kurdi A , Babay Z , Bubshait DK , Ibrahim N , Abdulwahab F , Rahbeeni Z , Hashem M , Alkuraya FS
Ref : Genome Biol , 16 :116 , 2015
Abstract :
PubMedSearch : Shamseldin_2015_Genome.Biol_16_116
PubMedID: 26036949
Gene_locus related to this paper: human-CTSA