Lipid metabolic pathways converge in motor neuron degenerative diseases

por Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H
Publicado 2020

Misannotation of multiple-nucleotide variants risks misdiagnosis

por Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Publicado 2020

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

por Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F
Publicado 2021

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

por Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Baple, Emma L., Dias, Irundika HK, Crosby, Andrew H., Griffiths, Helen R.
Publicado 2020

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

por Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Publicado 2019

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

por Wilson, Rosemary H.C., Biasutto, Antonio J., Wang, Lihao, Fischer, Roman, Baple, Emma L., Crosby, Andrew H., Mancini, Erika J., Green, Catherine M.
Publicado 2017

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

por Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Ampong, Isaac, Gao, Dan, Baple, Emma L., Dias, Irundika HK., Crosby, Andrew H., Griffiths, Helen R.
Publicado 2020

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

por Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.
Publicado 2018

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

por Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
Publicado 2018

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

por 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
Publicado 2019

No association between SCN9A and monogenic human epilepsy disorders

por 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.
Publicado 2020

HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress

por Sala-Gaston, Joan, Pedrazza, Leonardo, Ramirez, Juanma, Martinez-Martinez, Arturo, Rawlins, Lettie E., Baple, Emma L., Crosby, Andrew H., Mayor, Ugo, Ventura, Francesc, Rosa, Jose Luis
Publicado 2022

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

por Marwan, Muhammad, Dawood, Muhammad, Ullah, Mukhtar, Shah, Irfan Ullah, Khan, Niamat, Hassan, Muhammad Taimur, Karam, Muhammad, Rawlins, Lettie E., Baple, Emma L, Crosby, Andrew H., Saleha, Shamim
Publicado 2023

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

por 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
Publicado 2016

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

por 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.
Publicado 2021

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

por 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.
Publicado 2015

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

por Ma, Yan, Wang, Xun, Shoshany, Nadav, Jiao, Xiaodong, Lee, Adrian, Ku, Gregory, Baple, Emma L., Fasham, James, Nadeem, Raheela, Naeem, Muhammad Asif, Riazuddin, Sheikh, Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Publicado 2022

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

por Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., Khalaf-Nazzal, Reham
Publicado 2021

MNS1 variant associated with situs inversus and male infertility

por 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.
Publicado 2019

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

por O’Gorman, Luke, Norman, Chelsea S., Michaels, Luke, Newall, Tutte, Crosby, Andrew H., Mattocks, Christopher, Cree, Angela J., Lotery, Andrew J., Baple, Emma L., Ratnayaka, J. Arjuna, Baralle, Diana, Lee, Helena, Osborne, Daniel, Shawkat, Fatima, Gibson, Jane, Ennis, Sarah, Self, Jay E.
Publicado 2019