PCNA mutation affects DNA repair not replication

Autor Green, Catherine M, Baple, Emma L, Crosby, Andrew H
Vydáno v Cell Cycle (2014)

Lipid metabolic pathways converge in motor neuron degenerative diseases

Autor Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H
Vydáno v Brain (2020)

Misannotation of multiple-nucleotide variants risks misdiagnosis

Autor Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Vydáno v Wellcome Open Res (2020)

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Autor Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F
Vydáno v J Med Genet (2021)

Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics

Autor Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Baple, Emma L., Dias, Irundika HK, Crosby, Andrew H., Griffiths, Helen R.
Vydáno v Data Brief (2020)

Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B

Autor Thomas, Nicholas, Glod, John, Derse-Anthony, Claudia, Baple, Emma L, Obsborne, Nigel, Sturley, Rachel, Vaidya, Bijay, Newbold, Kate, Brooke, Antonia
Vydáno v Clin Endocrinol (Oxf) (2018)

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

Autor Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Vydáno v BMC Med Genet (2019)

An atypical case of hypomethylation at multiple imprinted loci

Autor Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G
Vydáno 2011

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

Autor Wilson, Rosemary H.C., Biasutto, Antonio J., Wang, Lihao, Fischer, Roman, Baple, Emma L., Crosby, Andrew H., Mancini, Erika J., Green, Catherine M.
Vydáno v DNA Repair (Amst) (2017)

A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism

Autor Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Ampong, Isaac, Gao, Dan, Baple, Emma L., Dias, Irundika HK., Crosby, Andrew H., Griffiths, Helen R.
Vydáno v Redox Biol (2020)

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Autor Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.
Vydáno v BMC Med Genet (2018)

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Autor Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
Vydáno v BMC Med Genet (2018)

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Autor Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma
Vydáno v BMC Med Genet (2019)

No association between SCN9A and monogenic human epilepsy disorders

Autor 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.
Vydáno v PLoS Genet (2020)

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Autor Rawlins, Lettie E., Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H., Baple, Emma L.
Vydáno v Eur J Hum Genet (2019)

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

Autor DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza
Vydáno v Iran J Public Health (2016)

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Autor Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J., Leslie, Joseph S., Warner, Thomas T., Al-Hijawi, Fida’, Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D., Baple, Emma L., Crosby, Andrew H.
Vydáno v Brain Sci (2021)

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

Autor Iype, Thomas, Alakbarzade, Vafa, Iype, Mary, Singh, Royana, Sreekantan-Nair, Ajith, Chioza, Barry A., Mohapatra, Tribhuvan M., Baple, Emma L., Patton, Michael A., Warner, Thomas T., Proukakis, Christos, Kulkarni, Abhi, Crosby, Andrew H.
Vydáno v BMC Med Genet (2015)

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in P...

Autor Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby, Andrew H., Mahmood, Saqib
Vydáno v Eye (Lond) (2019)

MNS1 variant associated with situs inversus and male infertility

Autor 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.
Vydáno v Eur J Hum Genet (2019)