Found: 20

Select item for more details and to access through your institution.

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

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 23, p. 6345, doi. 10.1093/hmg/ddu352
    By:
    • 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.
    Publication type:
    Article

  • An adolescent health and lifestyle guidance system.

    Published in:
    Adolescence, 1994, v. 29, n. 114, p. 267
    By:
    • Cross, Harold D.
    Publication type:
    Article

  • Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

    Published in:
    2021
    By:
    • Salter, Claire G;
    • Cai, Yiying;
    • Lo, Bernice;
    • Helman, Guy;
    • Taylor, Henry;
    • McCartney, Amber;
    • Leslie, Joseph S;
    • Accogli, Andrea;
    • Zara, Federico;
    • Traverso, Monica;
    • Fasham, James;
    • Lees, Joshua A;
    • Ferla, Matteo P;
    • Chioza, Barry A;
    • Wenger, Olivia;
    • Scott, Ethan;
    • Cross, Harold E;
    • Crawford, Joanna;
    • Warshawsky, Ilka;
    • Keisling, Matthew
    Publication type:
    journal article

  • Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

    Published in:
    Nature Genetics, 2004, v. 36, n. 11, p. 1225, doi. 10.1038/ng1460
    By:
    • Simpson, Michael A.;
    • Cross, Harold;
    • Proukakis, Christos;
    • Priestman, David A.;
    • Neville, David C. A.;
    • Reinkensmeier, Gabriele;
    • Heng Wang;
    • Wiznitzer, Max;
    • Gurtz, Kay;
    • Verganelaki, Argyro;
    • Pryde, Anna;
    • Patton, Michael A.;
    • Dwek, Raymond A;
    • Butters, Terry D.;
    • Platt, Frances M.;
    • Crosby, Andrew H.
    Publication type:
    Article

  • 'ER'

    Published in:
    2000
    By:
    • Cross, Harold
    Publication type:
    Book Review

  • SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

    Published in:
    Nature Genetics, 2002, v. 31, n. 4, p. 347, doi. 10.1038/ng937
    By:
    • Patel, Heema;
    • Cross, Harold;
    • Proukakis, Christos;
    • Hershberger, Ruth;
    • Bork, Peer;
    • Ciccarelli, Francesca D.;
    • Patton, Michael A.;
    • McKusick, Victor A.;
    • Crosby, Andrew H.
    Publication type:
    Article

  • LETTERS.

    Published in:
    1973
    By:
    • Eddy, Richard L.;
    • McMurry Jr., James F.;
    • Best, Edward B.;
    • Henderson, Billy W.;
    • Smith, V. Taylor;
    • Lang, Jean-Marie;
    • Oberling, Francis;
    • North, Marie-Louise;
    • Mayer, Simone;
    • Waltz, Robert;
    • Young, Stuart W.;
    • Farid, Zoheir;
    • Miller, Alan B.;
    • Waggoner, David M.;
    • Panayotopoulos, Evangelos K.;
    • Tremonti, Lawrence P.;
    • Cross, Harold D.;
    • Burger, Charles S.;
    • Bjorn, John C.
    Publication type:
    Letter

  • Hypomorphic PCNA mutation underlies a human DNA repair disorder.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
    By:
    • 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.
    Publication type:
    Article

  • SLITRK6 mutations cause myopia and deafness in humans and mice.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2094, doi. 10.1172/JCI65853
    By:
    • Tekin, Mustafa;
    • Chioza, Barry A.;
    • Yoshifumi Matsumoto;
    • Diaz-Horta, Oscar;
    • Cross, Harold E.;
    • Duygu Duman;
    • Kokotas, Haris;
    • Moore-Barton, Heather L.;
    • Kazuto Sakoori;
    • Maya Ota;
    • Yuri S. Odaka;
    • Foster II, Joseph;
    • Cengiz, F. Basak;
    • Suna Tokgoz-Yilmaz;
    • Oya Tekeli;
    • Grigoriadou, Maria;
    • Petersen, Michael B.;
    • Sreekantan-Nair, Ajith;
    • Gurtz, Kay;
    • Xia-Juan Xia
    Publication type:
    Article

  • Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00275-9
    By:
    • Lin, Siying;
    • Sanchez-Bretaño, Aida;
    • Leslie, Joseph S.;
    • Williams, Katie B.;
    • Lee, Helena;
    • Thomas, N. Simon;
    • Callaway, Jonathan;
    • Deline, James;
    • Ratnayaka, J. Arjuna;
    • Baralle, Diana;
    • Schmitt, Melanie A.;
    • Norman, Chelsea S.;
    • Hammond, Sheri;
    • Harlalka, Gaurav V.;
    • Ennis, Sarah;
    • Cross, Harold E.;
    • Wenger, Olivia;
    • Crosby, Andrew H.;
    • Baple, Emma L.;
    • Self, Jay E.
    Publication type:
    Article

  • Cancer of the cervix in an Amish population.

    Published in:
    1968
    By:
    • Cross, Harold E.;
    • Kennel, Elmer E.;
    • Lilienfeld, Abraham M.;
    • Cross, H E;
    • Kennel, E E;
    • Lilienfeld, A M
    Publication type:
    journal article

  • A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

    Published in:
    PLoS Genetics, 2021, v. 17, n. 9, p. 1, doi. 10.1371/journal.pgen.1009803
    By:
    • Ammous, Zineb;
    • Rawlins, Lettie E.;
    • Jones, Hannah;
    • Leslie, Joseph S.;
    • Wenger, Olivia;
    • Scott, Ethan;
    • Deline, Jim;
    • Herr, Tom;
    • Evans, Rebecca;
    • Scheid, Angela;
    • Kennedy, Joanna;
    • Chioza, Barry A.;
    • Ames, Ryan M.;
    • Cross, Harold E.;
    • Puffenberger, Erik G.;
    • Harries, Lorna;
    • Baple, Emma L.;
    • Crosby, Andrew H.
    Publication type:
    Article

  • No association between SCN9A and monogenic human epilepsy disorders.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009161
    By:
    • 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.
    Publication type:
    Article

  • Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

    Published in:
    2015
    By:
    • Jinks, Robert N.;
    • Puffenberger, Erik G.;
    • Baple, Emma;
    • Harding, Brian;
    • Crino, Peter;
    • Fogo, Agnes B.;
    • Wenger, Olivia;
    • Baozhong Xin;
    • Koehler, Alanna E.;
    • McGlincy, Madeleine H.;
    • Provencher, Margaret M.;
    • Smith, Jeffrey D.;
    • Tran, Linh;
    • Turki, Saeed Al;
    • Chioza, Barry A.;
    • Cross, Harold;
    • Harlalka, Gaurav V.;
    • Hurles, Matthew E.;
    • Maroofan, Reza;
    • Heaps, Adam D.
    Publication type:
    journal article

  • Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

    Published in:
    2013
    By:
    • Harlalka, Gaurav V;
    • Lehman, Anna;
    • Chioza, Barry;
    • Baple, Emma L;
    • Maroofian, Reza;
    • Cross, Harold;
    • Sreekantan-Nair, Ajith;
    • Priestman, David A;
    • Al-Turki, Saeed;
    • McEntagart, Meriel E;
    • Proukakis, Christos;
    • Royle, Louise;
    • Kozak, Radoslaw P;
    • Bastaki, Laila;
    • Patton, Michael;
    • Wagner, Karin;
    • Coblentz, Roselyn;
    • Price, Joy;
    • Mezei, Michelle;
    • Schlade-Bartusiak, Kamilla
    Publication type:
    journal article

  • Troyer syndrome revisited.

    Published in:
    Journal of Neurology, 2004, v. 251, n. 9, p. 1105, doi. 10.1007/s00415-004-0491-3
    By:
    • Proukakis, Christos;
    • Cross, Harold;
    • Patel, Heema;
    • Patton, Michael;
    • Valentine, Alan;
    • Crosby, Andrew
    Publication type:
    Article

  • Population studies and the Old Order Amish.

    Published in:
    Nature, 1976, v. 262, n. 5563, p. 17, doi. 10.1038/262017a0
    By:
    • Cross, Harold E.
    Publication type:
    Article

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

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470
    By:
    • Muggenthaler, Martina M. A.;
    • Harlalka, Gaurav V.;
    • Baple, Emma L.;
    • Crosby, Andrew H.;
    • Chioza, Barry A.;
    • Patton, Michael A.;
    • Blakley, Brian;
    • Jackson, Mike;
    • Lees, Melissa;
    • Dolinsky, Vernon;
    • Cross, Leroy;
    • Salter, Claire;
    • Alkuraya, Fowzan S.;
    • Chowdhury, Biswajit;
    • Hasan, S. Naimul;
    • Triggs-Raine, Barbara;
    • Cross, Harold E.;
    • Mark, Brian;
    • Ishida, Miho;
    • Stanier, Philip
    Publication type:
    Article

  • The Detection of Depression and the Financing of Medical Care.

    Published in:
    1990
    By:
    • Cross, Harold D.
    Publication type:
    Letter

  • Linkage studies of Best's macular dystrophy.

    Published in:
    Clinical Genetics, 1988, v. 34, n. 1, p. 26, doi. 10.1111/j.1399-0004.1988.tb02611.x
    By:
    • Yoder, Freda E.;
    • Cross, Harold E.;
    • Chase, Gary A.;
    • Fine, Stuart L.;
    • Freidhoff, Linda;
    • Machan, Carol H.;
    • Bias, Wilma B.
    Publication type:
    Article