Functional Roles of Bestrophins in Ocular Epithelia

von Marmorstein, Alan D., Cross, Harold E., Peachey, Neal S.
Veröffentlicht 2009

No association between SCN9A and monogenic human epilepsy disorders

von Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E., Crosby, Andrew H., Baple, Emma L.
Veröffentlicht in PLoS Genet (2020)

MNS1 variant associated with situs inversus and male infertility

von Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.
Veröffentlicht in Eur J Hum Genet (2019)

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

von Crosby, Andrew H., Patel, Heema, Chioza, Barry A., Proukakis, Christos, Gurtz, Kay, Patton, Michael A., Sharifi, Reza, Harlalka, Gaurav, Simpson, Michael A., Dick, Katherine, Reed, Johanna A., Al-Memar, Ali, Chrzanowska-Lightowlers, Zofia M.A., Cross, Harold E., Lightowlers, Robert N.
Veröffentlicht 2010

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

von Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
Veröffentlicht 2014

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

von Wilson, William C., Hornig-Do, Hue-Tran, Bruni, Francesco, Chang, Jeong Ho, Jourdain, Alexis A., Martinou, Jean-Claude, Falkenberg, Maria, Spåhr, Henrik, Larsson, Nils-Göran, Lewis, Richard J., Hewitt, Lorraine, Baslé, Arnaud, Cross, Harold E., Tong, Liang, Lebel, Robert R., Crosby, Andrew H., Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N.
Veröffentlicht in Hum Mol Genet (2014)

Hypomorphic PCNA mutation underlies a human DNA repair disorder

von Baple, Emma L., Chambers, Helen, Cross, Harold E., Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A., Harlalka, Gaurav V., Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A., Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K., Last, James I., Taylor, A. Malcolm R., Jackson, Andrew P., Ogi, Tomoo, Lehmann, Alan R., Green, Catherine M., Crosby, Andrew H.
Veröffentlicht 2014

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

von Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Veröffentlicht in PLoS Genet (2017)

SLITRK6 mutations cause myopia and deafness in humans and mice

von Tekin, Mustafa, Chioza, Barry A., Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E., Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L., Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S., Foster, Joseph, Cengiz, F. Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A., Young, Juan I., Aruga, Jun, Crosby, Andrew H.
Veröffentlicht 2013

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

von Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.
Veröffentlicht in Genome Res (2019)