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Journal of Medical Genetics, ISSN 0022-2593, 07/2013, Volume 50, Issue 7, pp. 491 - 492
  After obtaining written informed consent, DNA was extracted from whole blood and we proceeded with autozygome-guided candidate gene analysis for known OI... 
GENETICS & HEREDITY | Radiography | Wnt1 Protein - genetics | Bone and Bones - diagnostic imaging | Humans | Models, Molecular | Osteogenesis Imperfecta - genetics | Female | Protein Conformation | Fractures | Mutation
Journal Article
European Spine Journal, ISSN 0940-6719, 5/2016, Volume 25, Issue S1, pp. 167 - 174
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 593 - 598
Background: Clinical exome sequencing (CES) has greatly improved the diagnostic process for individuals with suspected genetic disorders. However, the majority... 
clinical genome | autozygome | clinical genomics | clinical exome | variant interpretation | GENETICS | GENETICS & HEREDITY | MUTATIONS | Computational Biology - methods | Genetic Predisposition to Disease | Genetic Testing | Humans | Sensitivity and Specificity | Software | Whole Exome Sequencing - methods
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 242
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 471 - 481
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 412 - 424
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1144 - 1150
Purpose: The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only... 
autozygome | molecular mechanism | loss of function | gain of function | dominant negative | PROTEIN | GUIDELINES