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H

Harold E. Cross

newcastle university - uk
H指数:25
被引数:2,359

个人简介

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
GENETICS IN MEDICINE
IF6.2
2022-11-014
OA
Leslie, Joseph S.; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A.; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H.; Craig, Samuel B.; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Lorentzen, Esben; Norris, Dominic P.; Anikster, Yair; Omran, Heymut; Grimes, Daniel T.; Crosby, Andrew H.; Baple, Emma L.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变体引起神经，肠道和免疫性疾病

BRAIN
IF11.7
2021-08-2028
OAAI
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; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N.; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J.; Acar, Utkucan; van der Knaap, Marjo S.; Korenke, G. Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H.; Crosby, Andrew H.; De Camilli, Pietro; Wolf, Nicole, I; Baple, Emma L.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
GENOME RESEARCH
IF5.5
2019-06-0334
OAAI
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.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
PLOS GENETICS
IF3.7
2017-01-1225
OAAI
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.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
BRAIN
IF11.7
2015-06-1152
OAAI
Jinks, Robert N.; Puffenberger, Erik G.; Baple, Emma; Harding, Brian; Crino, Peter; Fogo, Agnes B.; Wenger, Olivia; Xin, Baozhong; Koehler, Alanna E.; McGlincy, Madeleine H.; Provencher, Margaret M.; Smith, Jeffrey D.; Linh Tran; Al Turki, Saeed; Chioza, Barry A.; Cross, Harold; Harlalka, Gaurav V.; Hurles, Matthew E.; Maroofian, Reza; Heaps, Adam D.; Morton, Mary C.; Stempak, Lisa; Hildebrandt, Friedhelm; Sadowski, Carolin E.; Zaritsky, Joshua; Campellone, Kenneth; Morton, D. Holmes; Wang, Heng; Crosby, Andrew; Strauss, Kevin A.
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression
HUMAN MOLECULAR GENETICS
IF3.2
2014-07-0959
OAAI
Wilson, William C.; Hue-Tran Hornig-Do; Bruni, Francesco; Chang, Jeong Ho; Jourdain, Alexis A.; Martinou, Jean-Claude; Falkenberg, Maria; Spahr, Henrik; Larsson, Nils-Goeran; Lewis, Richard J.; Hewitt, Lorraine; Basle, Arnaud; Cross, Harold E.; Tong, Liang; Lebel, Robert R.; Crosby, Andrew H.; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.
Hypomorphic PCNA mutation underlies a human DNA repair disorder
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2014-06-0982
OA
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.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
BRAIN
IF11.7
2013-10-06105
OAAI
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; Platt, Frances M.; Hurles, Matthew E.; Crosby, Andrew H.
SLITRK6 mutations cause myopia and deafness in humans and mice
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2013-04-0156
OA
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, II; 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.

研究方向

暂未获取到该数据
A
Andrew H. Crosby
H 指数:51论文数:215被引数:1.3万
E
Emma L. Baple
H 指数:36论文数:161被引数:5,460
B
Barry A. Chioza
H 指数:31论文数:84被引数:2,977
M
Michael A. Patton
H 指数:48论文数:163被引数:1.1万
G
Gaurav V. Harlalka
H 指数:18论文数:38被引数:1,057
J
Joseph S. Leslie
H 指数:11论文数:22被引数:301
J
James Fasham
H 指数:12论文数:34被引数:535
C
Claire Salter
H 指数:18论文数:35被引数:1,080
R
Reza Maroofian
H 指数:40论文数:319被引数:5,998
O
Olivia Wenger
H 指数:12论文数:29被引数:571