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

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

Authors: Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.

Source: American journal of human genetics. 107(6):1178-1185

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115514286.0x000001&indx=1&recIds=ETOCvdc_100115514286.0x000001

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Authors: Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar

Source: Journal of Molecular Medicine; Dec2021, Vol. 99 Issue 12, p1755-1768, 14p

Subject Terms: PHENOTYPES, NEURAL development, MISSENSE mutation, AMINOACYL-tRNA synthetases, SHORT stature, GENETIC mutation

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Authors: Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann‑Josef, Koch‑Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar

Source: Journal of Molecular Medicine; Dec2021, Vol. 99 Issue 12, p1769-1770, 2p

Subject Terms: MISSENSE mutation, PHENOTYPES, NEURAL development, TRANSFER RNA, CATALYTIC domains, NUCLEIC acids