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Safety and Efficacy of Intermittent High-Dose Liposomal Amphotericin B Antifungal Prophylaxis in Haemato-Oncology: An Eight-Year Single-Centre Experience and Review of the Literature.
Published in:
Journal of Fungi, 2020, v. 6, n. 4, p. 1, doi. 10.3390/jof6040385
By:
- Youngs, Jonathan;
- Low, Jen Mae;
- Whitney, Laura;
- Logan, Clare;
- Chase, Janice;
- Ting Yau;
- Klammer, Matthias;
- Koh, Mickey;
- Bicanic, Tihana
Publication type:
Article
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
By:
- Tarnauskaitė, Žygimantė;
- Bicknell, Louise S.;
- Marsh, Joseph A.;
- Murray, Jennie E.;
- Parry, David A.;
- Logan, Clare V.;
- Bober, Michael B.;
- Silva, Deepthi C.;
- Duker, Angela L.;
- Sillence, David;
- Wise, Carol;
- Jackson, Andrew P.;
- Murina, Olga;
- Reijns, Martin A. M.
Publication type:
Article
Optimizing the Treatment of Invasive Candidiasis—A Case for Combination Therapy.
Published in:
Open Forum Infectious Diseases, 2024, v. 11, n. 6, p. 1, doi. 10.1093/ofid/ofae072
By:
- Wake, Rachel M;
- Allebone-Salt, Phoebe E;
- John, Larissa L H;
- Caswall, Ben A;
- Govender, Nelesh P;
- Ben-Ami, Ronen;
- Murray, Lyle W;
- Logan, Clare;
- Harrison, Thomas S;
- Bicanic, Tihana A
Publication type:
Article
Chromoblastomycosis Treated With Posaconazole and Adjunctive Imiquimod: Lending Innate Immunity a Helping Hand.
Published in:
Open Forum Infectious Diseases, 2023, v. 10, n. 4, p. 1, doi. 10.1093/ofid/ofad124
By:
- Logan, Clare;
- Singh, Manuraj;
- Fox, Natalya;
- Brown, Gordon;
- Krishna, Sreedhar;
- Gordon, Kristiana;
- Macallan, Derek;
- Bicanic, Tihana
Publication type:
Article
A meckelin–filamin A interaction mediates ciliogenesis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 6, p. 1272, doi. 10.1093/hmg/ddr557
By:
- Adams, Matthew;
- Simms, Roslyn J.;
- Abdelhamed, Zakia;
- Dawe, Helen R.;
- Szymanska, Katarzyna;
- Logan, Clare V.;
- Wheway, Gabrielle;
- Pitt, Eva;
- Gull, Keith;
- Knowles, Margaret A.;
- Blair, Edward;
- Cross, Sally H.;
- Sayer, John A.;
- Johnson, Colin A.
Publication type:
Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509
By:
- Khan, Kamron;
- Logan, Clare V.;
- McKibbin, Martin;
- Sheridan, Eamonn;
- Elçioglu, Nursel H.;
- Yenice, Ozlem;
- Parry, David A.;
- Fernandez-Fuentes, Narcis;
- Abdelhamed, Zakia I.A.;
- Al-Maskari, Ahmed;
- Poulter, James A.;
- Mohamed, Moin D.;
- Carr, Ian M.;
- Morgan, Joanne E.;
- Jafri, Hussain;
- Raashid, Yasmin;
- Taylor, Graham R.;
- Johnson, Colin A.;
- Inglehearn, Chris F.;
- Toomes, Carmel
Publication type:
Article
Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104281
By:
- Watson, Christopher M.;
- El-Asrag, Mohammed;
- Parry, David A.;
- Morgan, Joanne E.;
- Logan, Clare V.;
- Carr, Ian M.;
- Sheridan, Eamonn;
- Charlton, Ruth;
- Johnson, Colin A.;
- Taylor, Graham;
- Toomes, Carmel;
- McKibbin, Martin;
- Inglehearn, Chris F.;
- Ali, Manir
Publication type:
Article
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Published in:
Nature Genetics, 2011, v. 43, n. 3, p. 189, doi. 10.1038/ng.756
By:
- Davis, Erica E.;
- Qi Zhang;
- Qin Liu;
- Diplas, Bill H.;
- Davey, Lisa M.;
- Hartley, Jane;
- Stoetzel, Corinne;
- Szymanska, Katarzyna;
- Ramaswami, Gokul;
- Logan, Clare V.;
- Muzny, Donna M.;
- Young, Alice C.;
- Wheeler, David A.;
- Cruz, Pedro;
- Morgan, Margaret;
- Lewis, Lora R.;
- Cherukuri, Praveen;
- Maskeri, Baishali;
- Hansen, Nancy F.;
- Mullikin, James C.
Publication type:
Article
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Published in:
Nature Genetics, 2010, v. 42, n. 7, p. 619, doi. 10.1038/ng.594
By:
- Valente, Enza Maria;
- Logan, Clare V;
- Mougou-Zerelli, Soumaya;
- Lee, Jeong Ho;
- Silhavy, Jennifer L;
- Brancati, Francesco;
- Iannicelli, Miriam;
- Travaglini, Lorena;
- Romani, Sveva;
- Illi, Barbara;
- Adams, Matthew;
- Szymanska, Katarzyna;
- Mazzotta, Annalisa;
- Ji Eun Lee;
- Tolentino, Jerlyn C;
- Swistun, Dominika;
- Salpietro, Carmelo D;
- Fede, Carmelo;
- Gabriel, Stacey;
- Russ, Carsten
Publication type:
Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
By:
- Khanna, Hemant;
- Davis, Erica E.;
- Murga-Zamalloa, Carlos A.;
- Estrada-Cuzcano, Alejandro;
- Lopez, Irma;
- den Hollander, Anneke I.;
- Zonneveld, Marijke N.;
- Othman, Mohammad I.;
- Waseem, Naushin;
- Chakarova, Christina F.;
- Maubaret, Cecilia;
- Diaz-Font, Anna;
- MacDonald, Ian;
- Muzny, Donna M;
- Wheeler, David A.;
- Morgan, Margaret;
- Lewis, Lora R.;
- Logan, Clare V.;
- Tan, Perciliz L.;
- Beer, Michael A.
Publication type:
Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
By:
- Mirzaa, Ghayda M;
- Parry, David A;
- Fry, Andrew E;
- Giamanco, Kristin A;
- Schwartzentruber, Jeremy;
- Vanstone, Megan;
- Logan, Clare V;
- Roberts, Nicola;
- Johnson, Colin A;
- Singh, Shawn;
- Kholmanskikh, Stanislav S;
- Adams, Carissa;
- Hodge, Rebecca D;
- Hevner, Robert F;
- Bonthron, David T;
- Braun, Kees P J;
- Faivre, Laurence;
- Rivière, Jean-Baptiste;
- St-Onge, Judith;
- Gripp, Karen W
Publication type:
Article
Mutations in TJP2 cause progressive cholestatic liver disease.
Published in:
Nature Genetics, 2014, v. 46, n. 4, p. 326, doi. 10.1038/ng.2918
By:
- Sambrotta, Melissa;
- Strautnieks, Sandra;
- Papouli, Efterpi;
- Rushton, Peter;
- Clark, Barnaby E;
- Parry, David A;
- Logan, Clare V;
- Newbury, Lucy J;
- Kamath, Binita M;
- Ling, Simon;
- Grammatikopoulos, Tassos;
- Wagner, Bart E;
- Magee, John C;
- Sokol, Ronald J;
- Mieli-Vergani, Giorgina;
- Smith, Joshua D;
- Johnson, Colin A;
- McClean, Patricia;
- Simpson, Michael A;
- Knisely, A S
Publication type:
Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Published in:
Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
By:
- Koenekoop, Robert K;
- Wang, Hui;
- Majewski, Jacek;
- Wang, Xia;
- Lopez, Irma;
- Ren, Huanan;
- Chen, Yiyun;
- Li, Yumei;
- Fishman, Gerald A;
- Genead, Mohammed;
- Schwartzentruber, Jeremy;
- Solanki, Naimesh;
- Traboulsi, Elias I;
- Cheng, Jingliang;
- Logan, Clare V;
- McKibbin, Martin;
- Hayward, Bruce E;
- Parry, David A;
- Johnson, Colin A;
- Nageeb, Mohammed
Publication type:
Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
By:
- Lee, Ji Eun;
- Silhavy, Jennifer L;
- Zaki, Maha S;
- Schroth, Jana;
- Bielas, Stephanie L;
- Marsh, Sarah E;
- Olvera, Jesus;
- Brancati, Francesco;
- Iannicelli, Miriam;
- Ikegami, Koji;
- Schlossman, Andrew M;
- Merriman, Barry;
- Attié-Bitach, Tania;
- Logan, Clare V;
- Glass, Ian A;
- Cluckey, Andrew;
- Louie, Carrie M;
- Lee, Jeong Ho;
- Raynes, Hilary R;
- Rapin, Isabelle
Publication type:
Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Published in:
Nature Genetics, 2011, v. 43, n. 12, p. 1189, doi. 10.1038/ng.995
By:
- Logan, Clare V;
- Lucke, Barbara;
- Pottinger, Caroline;
- Abdelhamed, Zakia A;
- Parry, David A;
- Szymanska, Katarzyna;
- Diggle, Christine P;
- Riesen, Anne van;
- Morgan, Joanne E;
- Markham, Grace;
- Ellis, Ian;
- Manzur, Adnan Y;
- Markham, Alexander F;
- Shires, Mike;
- Helliwell, Tim;
- Scoto, Mariacristina;
- Hübner, Christoph;
- Bonthron, David T;
- Taylor, Graham R;
- Sheridan, Eamonn
Publication type:
Article
Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Published in:
2011
By:
- Davis, Erica E;
- Zhang, Qi;
- Liu, Qin;
- Diplas, Bill H;
- Davey, Lisa M;
- Hartley, Jane;
- Stoetzel, Corinne;
- Szymanska, Katarzyna;
- Ramaswami, Gokul;
- Logan, Clare V;
- Muzny, Donna M;
- Young, Alice C;
- Wheeler, David A;
- Cruz, Pedro;
- Morgan, Margaret;
- Lewis, Lora R;
- Cherukuri, Praveen;
- Maskeri, Baishali;
- Hansen, Nancy F;
- Mullikin, James C
Publication type:
Correction notice
Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 945, doi. 10.1002/humu.22322
By:
- Carr, Ian M.;
- Morgan, Joanne;
- Watson, Christopher;
- Melnik, Svitlana;
- Diggle, Christine P.;
- Logan, Clare V.;
- Harrison, Sally M.;
- Taylor, Graham R.;
- Pena, Sergio D.J.;
- Markham, Alexander F.;
- Alkuraya, Fowzan S.;
- Black, Graeme C.M.;
- Ali, Manir;
- Bonthron, David T.
Publication type:
Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1175, doi. 10.1002/humu.22111
By:
- Diggle, Christine P.;
- Parry, David A.;
- Logan, Clare V.;
- Laissue, Paul;
- Rivera, Carolina;
- Restrepo, Carlos Martín;
- Fonseca, Dora J.;
- Morgan, Joanne E.;
- Allanore, Yannick;
- Fontenay, Michaela;
- Wipff, Julien;
- Varret, Mathilde;
- Gibault, Laure;
- Dalantaeva, Nadezhda;
- Korbonits, Márta;
- Zhou, Bowen;
- Yuan, Gang;
- Harifi, Ghita;
- Cefle, Kivanc;
- Palanduz, Sukru
Publication type:
Article
The expanding phenotype of <italic>RNU4ATAC</italic> pathogenic variants to Lowry Wood syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 465, doi. 10.1002/ajmg.a.38581
By:
- Farach, Laura S.;
- Little, Mary E.;
- Duker, Angela L.;
- Logan, Clare V.;
- Jackson, Andrew;
- Hecht, Jaqueline T.;
- Bober, Michael
Publication type:
Article
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0154-5
By:
- Acevedo, Ana Carolina;
- Poulter, James A.;
- Alves, Priscila Gomes;
- de Lima, Caroline Lourenço;
- Castro, Luiz Claudio;
- Yamaguti, Paulo Marcio;
- Paula, Lilian M.;
- Parry, David A.;
- Logan, Clare V.;
- Smith, Claire E. L.;
- Johnson, Colin A.;
- Inglehearn, Chris F.;
- Mighell, Alan J.
Publication type:
Article
Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects.
Published in:
Molecular Neurobiology, 2011, v. 43, n. 1, p. 12, doi. 10.1007/s12035-010-8154-0
By:
- Logan, Clare;
- Abdel-Hamed, Zakia;
- Johnson, Colin
Publication type:
Article
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Published in:
Molecular Vision, 2022, v. 28, p. 57
By:
- Panagiotou, Evangelia S.;
- Fernandez-Fuentes, Narcis;
- Farraj, Layal Abi;
- McKibbin, Martin;
- Elçioglu, Nursel H.;
- Jafri, Hussain;
- Cerman, Eren;
- Parry, David A.;
- Logan, Clare V.;
- Johnson, Colin A.;
- Inglehearn, Chris F.;
- Toomes, Carmel;
- Ali, Manir
Publication type:
Article

Found: 22