Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant

Authors: Alghamdi, Malak, Monies, Dorota, Alsohime, Fahad, Temsah, Hani, Almodaihsh, Fahad, Aldawasri, Mana, Alsultan, Abdulrahman, Alkuraya, Fowzan S.

Source: In European Journal of Medical Genetics July 2021 64(7)

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Authors: Dasouki, Majed, Alaiya, Ayodeele, ElAmin, Tanziel, Shinwari, Zakia, Monies, Dorota, Abouelhoda, Mohamed, Jabaan, Amjad, Almourfi, Feras, Rahbeeni, Zuhair, Alsohaibani, Fahad, Almohareb, Fahad, Al-Zahrani, Hazzaa, Guzmán Vega, Francisco J., Arold, Stefan T., Aljurf, Mahmoud, Ahmed, Syed Osman

Source: In iScience 19 March 2021 24(3)

New or vanishing frontiers: LACC1-associated juvenile arthritis

Authors: Al-Mayouf, Sulaiman M., Yateem, Mada, Al-Dusery, Haya, Monies, Dorota, Wakil, Salma, AlShiakh, Manal, AlEnazi, Abdullatif, Aladaileh, Boshra, Alzyoud, Raed, Meyer, Brian

Source: In International Journal of Pediatrics and Adolescent Medicine March 2021 8(1):44-47

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

Authors: Al‐Bakheet, Albandary, Tohary, Mohamed, Khan, Sameena, Chedrawi, Aziza, Edrees, Alaa, Tous, Ehab, Al‐Mousa, Hamoud, Al‐Otaibi, Lefian, AlShahrani, Saif, Alsagob, Maysoon, Al‐Quait, Laila, Almass, Rawan, Al‐Joudi, Haya, Monies, Dorota, Al‐Semari, Abdulaziz, Aldosary, Mazhor, Daghestani, Maha, Colak, Dilek, Kaya, Namik, Al‐Owain, Mohammed

Source: Clinical genetics. 99(5):724-731

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119171196.0x000001&indx=1&recIds=ETOCvdc_100119171196.0x000001

PLACK syndrome is potentially treatable with intralipids

Authors: Sawan, Zinab A., Almehaidib, Ali, Binamer, Yousef, Monies, Dorota, Alsaleem, Khalid A., Aldekhail, Wajeeh, Alkuraya, Fowzan S., Abanemai, Mohammed

Source: Clinical genetics. 99(4):572-576

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116435925.0x000001&indx=1&recIds=ETOCvdc_100116435925.0x000001

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Authors: Bohlega, Saeed, Abusrair, Ali H., Al-Qahtani, Zainah, Guzmán-Vega, Francisco J., Ramakrishnan, Reshmi, Aldosari, Haya, Aldakheel, Amaal, Al-Qahtani, Salma, Monies, Dorota, Arold, Stefan T.

Source: Parkinsonism & related disorders. 108

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185861254.0x000001&indx=1&recIds=ETOCvdc_100185861254.0x000001

The clinical utility of rapid exome sequencing in a consanguineous population.

Authors: Monies, Dorota¹ (AUTHOR), Goljan, Ewa¹ (AUTHOR), Rapid Exome Consortium (AUTHOR), Binmanee, Abdulaziz Mohammed (AUTHOR), Alashwal, Abdullah Ali Zafir (AUTHOR), Alsonbul, Abdullah Mohammed (AUTHOR), Alhussaini, Abdulrahman A. (AUTHOR), Abdallah, Alahmari Ali (AUTHOR), Albenmousa, Ali Hussain (AUTHOR), Almehaidib, Ali Ibrahim (AUTHOR), Hassan, Ali Syed Akhtarul (AUTHOR), Alharbi, Amal Salman Alseraihy (AUTHOR), Alhabib, Amro (AUTHOR), Podda, Antonello (AUTHOR), Alsaleem, Badr (AUTHOR), Al Saud, Bandar Bin Khalid (AUTHOR), Bin Abbas, Bassam Saleh (AUTHOR), Faqeih, Eissa Ali (AUTHOR), Aljofan, Fahad Badei (AUTHOR), Alhazzani, Fahad Naser (AUTHOR)

Source: Genome Medicine. 6/21/2023, Vol. 15 Issue 1, p1-14. 14p.

Subject Terms: *INTENSIVE care units, *MOLECULAR diagnosis

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Authors: Bohlega, Saeed A., Abou-Al-Shaar, Hussam, AlDakheel, Amaal, Alajlan, Huda, Bohlega, Balsam S., Meyer, Brian F., Monies, Dorota, Cupler, Edward J., Al-Saif, Amr M.

Source: In Parkinsonism and Related Disorders July 2019 64:145-149

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Authors: Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E., Patel, Nisha, Al Qahtani, Awad, Alhebbi, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abouelhoda, Mohamed, Monies, Dorota, Al‐Hussaini, Abdulrahman, Alzouman, Muneerah A., Shagrani, Mohammad, Faqeih, Eissa, Alkuraya, Fowzan S.

Source: Hepatology. 71(6):2067-2079

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107538327.0x000001&indx=1&recIds=ETOCvdc_100107538327.0x000001

Autozygome and high throughput confirmation of disease genes candidacy

Authors: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):736-742

Expanding the phenome and variome of skeletal dysplasia

Authors: Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2018 20(12):1609-1616

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Authors: Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.

Source: In The American Journal of Human Genetics 3 May 2018 102(5):858-873

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

Authors: Yemni, Eman, Monies, Dorota, Alkhairallah, Thamer, Bohlega, Saeed, Abouelhoda, Mohamed, Magrashi, Amna, Mustafa, Abeer, AlAbdulaziz, Basma, Alhamed, Mohamed, Baz, Batoul, Goljan, Ewa, Albar, Renad, Jabaan, Amjad, Faquih, Tariq, Subhani, Shazia, Ali, Wafa, Shinwari, Jameela, Al-Mubarak, Bashayer, Al-Tassan, Nada

Source: Scientific reports. 9(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125949404.0x000001&indx=1&recIds=ETOCvdc_100125949404.0x000001

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Authors: Monies, Dorota, Vågbø, Cathrine Broberg, Al-Owain, Mohammad, Alhomaidi, Suzan, Alkuraya, Fowzan S.

Source: American journal of human genetics. 104(6):1202-1209

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093392449.0x000001&indx=1&recIds=ETOCvdc_100093392449.0x000001

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Authors: Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Maddirevula, Sateesh, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Jacob, Minnie, Alhashem, Amal, Alzaidan, Hamad I., Seidahmed, Mohammed Z., Alhashemi, Nadia, Rawashdeh, Rifaat, Eyaid, Wafaa, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Alswaid, Abdulrahman, Hadid, Adnan, Qari, Alya, Mohammed, Dia A., El Khashab, Heba Y., Alfadhel, Majid, Abanemai, Mohammad, Sunbul, Rawda, Al Tala, Saeed, Alkhalifi, Salwa, Alkharfi, Turki, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, AlDubayan, Saud H., Kurdi, Wesam, Al‐Owain, Mohammed, Dasouki, Majed J., Kentab, Amal Y., Atyani, Suha, Makhseed, Nawal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: Clinical genetics. 95(2):310-319

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082922427.0x000001&indx=1&recIds=ETOCvdc_100082922427.0x000001

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Authors: Owaidah, Tarek, Saleh, Mahasen, Baz, Batoul, Abdulaziz, Basma, Alzahrani, Hazza, Tarawah, Ahmed, Almusa, Abdulrahman, AlNounou, Randa, AbaAlkhail, Hala, Al-Numair, Nouf, Altahan, Rahaf, Abouelhoda, Mohammed, Alamoudi, Thamer, Monies, Dorota, Jabaan, Amjad, Al Tassan, Nada

Source: Npj genomic medicine. 4:1-7

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128893760.0x000001&indx=1&recIds=ETOCvdc_100128893760.0x000001

Β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression

Authors: Barnawi, Rayanah, Al‐Khaldi, Samiyah, Colak, Dilek, Tulbah, Asma, Al‐Tweigeri, Taher, Fallatah, Mohannad, Monies, Dorota, Ghebeh, Hazem, Al‐Alwan, Monther

Source: International journal of cancer. 145(3):830-841

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084080585.0x000001&indx=1&recIds=ETOCvdc_100084080585.0x000001

De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Authors: Derar, Nada, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian, Moghrabi, Nabil, Alkuraya, Fowzan

Source: Genetics in medicine. 21(1):185-188

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102165105.0x000001&indx=1&recIds=ETOCvdc_100102165105.0x000001

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Authors: Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Shaheen, Ranad, Arold, Stefan T., Alkuraya, Fowzan S.

Source: In Genetics in Medicine October 2017 19(10):1144-1150