AB021. Epigenetics and disease—lessons from imprinting disorders

by Baple, Emma
Published in Ann Transl Med (2015)

PCNA mutation affects DNA repair not replication

by Green, Catherine M, Baple, Emma L, Crosby, Andrew H
Published in Cell Cycle (2014)

Lipid metabolic pathways converge in motor neuron degenerative diseases

by Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H
Published in Brain (2020)

Virus recognition by specific natural antibodies and complement results in MHC I cross‐presentation

by Dürrbach, Antoine, Baple, Emma, Preece, Andrew F., Charpentier, Bernard, Gustafsson, Kenth
Published in Eur J Immunol (2007)

Misannotation of multiple-nucleotide variants risks misdiagnosis

by Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Published in Wellcome Open Res (2020)

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

by Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.
Published in Clin Dysmorphol (2016)

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

by Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F
Published in 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

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

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

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

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

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

An atypical case of hypomethylation at multiple imprinted loci

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

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

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

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

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

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

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

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

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

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway

by Mathiowetz, Alyssa J., Baple, Emma, Russo, Ashley J., Coulter, Alyssa M., Carrano, Eric, Brown, Judith D., Jinks, Robert N., Crosby, Andrew H., Campellone, Kenneth G.
Published in Mol Biol Cell (2017)

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

by 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
Published in BMC Med Genet (2019)

No association between SCN9A and monogenic human epilepsy disorders

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.
Published in PLoS Genet (2020)

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

by 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.
Published in Eur J Hum Genet (2019)

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

by Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian
Published in Hum Mol Genet (2019)