Works matching AU Cross, Harold

Results: 20

'ER'

Published in:

2000

By:

Cross, Harold

Publication type:

Book Review

An adolescent health and lifestyle guidance system.

Published in:

Adolescence, 1994, v. 29, n. 114, p. 267

By:

Cross, Harold D.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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