Timing, rates and spectra of human germline mutation
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Published in Nature genetics (01.02.2016)
Published in Nature genetics (01.02.2016)
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
Abou Tayoun, Ahmad N., Al Turki, Saeed H., Oza, Andrea M., Bowser, Mark J., Hernandez, Amy L., Funke, Birgit H., Rehm, Heidi L., Amr, Sami S.
Published in Genetics in medicine (01.06.2016)
Published in Genetics in medicine (01.06.2016)
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Isolated Bone Marrow Non-Langerhans Cell Histiocytosis Preceding RUNX1-Mutated Acute Myeloid Leukemia: Case Report and Literature Review
Al Mugairi, Areej, Al Turki, Saeed, Salama, Hind, Al Ahmadi, Khlood, Abuelgasim, Khadeja A, Damlaj, Moussab
Published in American journal of clinical pathology (03.05.2019)
Published in American journal of clinical pathology (03.05.2019)
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AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes
Ahmad, Rahaf M., Ali, Bassam R., Al-Jasmi, Fatma, Al Dhaheri, Noura, Al Turki, Saeed, Kizhakkedath, Praseetha, Mohamad, Mohd Saberi
Published in Human genomics (11.09.2024)
Published in Human genomics (11.09.2024)
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Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum
Kizhakkedath, Praseetha, AlDhaheri, Watfa, Baydoun, Ibrahim, Tabouni, Mohammed, John, Anne, Almansoori, Taleb M, Al-Turki, Saeed, Al-Jasmi, Fatma, Alblooshi, Hiba
Published in Frontiers in genetics (27.07.2023)
Published in Frontiers in genetics (27.07.2023)
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Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis
Alzahrani, Musa, Al Turki, Saeed, Al Rajban, Waleed, Alshalati, Fatimah, Almodaihsh, Fahad, Abuelgasim, Khadega A., Alahmari, Bader, Al Bogami, Thamer, Ali, Osama, Al Harbi, Talal, AlBalwi, Mohammed A., Alotaibi, Maram, Aleem, Aamer, Al Asker, Ahmed, Al Mugairi, Areej
Published in Platelets (Edinburgh) (17.11.2022)
Published in Platelets (Edinburgh) (17.11.2022)
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Development and Validation of ScriptTaq COVID PCR: An In-House Multiplex rRT-PCR for Low-Cost Detection
AbuObead, Dana Abdalghani, Alhomsi, Tasnim Khalid, Zhra, Mahmoud, Alosaimi, Bandar, Hamza, Muaawia, Awadalla, Maaweya, Abdelhadi, Osama Ezzeldin, Alsharif, Joud Abdullah, Okdah, Liliane, AlKattan, Khaled, Turki, Saeed Al, Fakhoury, Hana M A, Aljada, Ahmad
Published in Current Issues in Molecular Biology (05.12.2022)
Published in Current Issues in Molecular Biology (05.12.2022)
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Artificial Intelligence Approach for Variant Reporting
Zomnir, Michael G, Lipkin, Lev, Pacula, Maciej, Meneses, Enrique Dominguez, MacLeay, Allison, Duraisamy, Sekhar, Nadhamuni, Nishchal, Al Turki, Saeed H, Zheng, Zongli, Rivera, Miguel, Nardi, Valentina, Dias-Santagata, Dora, Iafrate, A John, Le, Long P, Lennerz, Jochen K
Published in JCO clinical cancer informatics (2018)
Published in JCO clinical cancer informatics (2018)
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High throughput exome coverage of clinically relevant cardiac genes
Manase, Dorin, D'Alessandro, Lisa C A, Manickaraj, Ashok Kumar, Al Turki, Saeed, Hurles, Matthew E, Mital, Seema
Published in BMC medical genomics (11.12.2014)
Published in BMC medical genomics (11.12.2014)
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Journal Article
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
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Journal Article
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect
D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
Published in Genetics in medicine (01.02.2016)
Published in Genetics in medicine (01.02.2016)
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang, Qian, Bastard, Paul, Liu, Zhiyong, Moncada-Velez, Marcela, Chen, Jie, Ogishi, Masato, Hodeib, Stephanie, Korol, Cecilia, Rosain, Jérémie, Bilguvar, Kaya, Ye, Junqiang, Bigio, Benedetta, Zhang, Yu, Korniotis, Sarantis, Philippot, Quentin, Chbihi, Marwa, Bonnet-Madin, Lucie, Schneider, William M, Razooky, Brandon S, Hoffmann, Hans-Heinrich, Moens, Leen, Han, Ji Eun, Lorenzo, Lazaro, Bizien, Lucy, Meade, Philip, Corneau, Aurélien, Kerner, Gaspard, Zhang, Peng, Rapaport, Franck, Seeleuthner, Yoann, Manry, Jeremy, Masson, Cecile, Schmitt, Yohann, Schlüter, Agatha, Le Voyer, Tom, Khan, Taushif, Li, Juan, Fellay, Jacques, Roussel, Lucie, Shahrooei, Mohammad, Mansouri, Davood, Al-Saud, Haya, Al-Mulla, Fahd, Almourfi, Feras, Alsohime, Fahad, Al Turki, Saeed, Hasanato, Rana, Biondi, Andrea, Bettini, Laura Rachele, Bonfanti, Paolo, Paghera, Simone, Oler, Andrew J, Tompkins, Miranda F, Alba, Camille, Goffard, Jean-Christophe, Smits, Guillaume, Migeotte, Isabelle, Haerynck, Filomeen, Soler-Palacin, Pere, Martin-Nalda, Andrea, Colobran, Roger, Çölkesen, Fatma, Ozcelik, Tayfun, Yasar, Kadriye Kart, Senoglu, Sevtap, Rodríguez-Gallego, Carlos, Novelli, Giuseppe, Hraiech, Sami, Duval, Xavier, Laouénan, Cédric, Snow, Andrew L, Dalgard, Clifton L, Milner, Joshua D, Vinh, Donald C, Mogensen, Trine H, Spaan, András N, Boisson, Bertrand, Boisson-Dupuis, Stéphanie, Puel, Anne, Ciancanelli, Michael J, Meyts, Isabelle, Maniatis, Tom, Soumelis, Vassili, Amara, Ali, Nussenzweig, Michel, García-Sastre, Adolfo, Krammer, Florian, Pujol, Aurora, Duffy, Darragh, Lifton, Richard P, Zhang, Shen-Ying, Gorochov, Guy, Béziat, Vivien, Jouanguy, Emmanuelle, Rice, Charles M, Abel, Laurent, Notarangelo, Luigi D, Cobat, Aurélie, Su, Helen C, Casanova, Jean-Laurent
Published in Science (23.10.2020)
Published in Science (23.10.2020)
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The UK10K project identifies rare variants in health and disease
Walter, Klaudia, Min, Josine L, Huang, Jie, Crooks, Lucy, Memari, Yasin, McCarthy, Shane, Perry, John R B, Xu, ChangJiang, Futema, Marta, Lawson, Daniel, Iotchkova, Valentina, Schiffels, Stephan, Hendricks, Audrey E, Danecek, Petr, Li, Rui, Floyd, James, Wain, Louise V, Barroso, Inês, Humphries, Steve E, Hurles, Matthew E, Zeggini, Eleftheria, Barrett, Jeffrey C, Plagnol, Vincent, Richards, J Brent, Greenwood, Celia M T, Timpson, Nicholas J, Durbin, Richard, Soranzo, Nicole
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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The genomic history of the Middle East
Almarri, Mohamed A., Haber, Marc, Lootah, Reem A., Hallast, Pille, Al Turki, Saeed, Martin, Hilary C., Xue, Yali, Tyler-Smith, Chris
Published in Cell (02.09.2021)
Published in Cell (02.09.2021)
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