A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome
Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q Y, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
Khan, Jahangir, Asif, Saaim, Ghani, Shamsul, Khan, Hamid, Arshad, Muhammad Waqar, khan, Shujaat Ali, Lin, Siying, Baple, Emma L, Salter, Claire, Crosby, Andrew H, Rawlins, Lettie, Shabbir, Muhammad Imran
Published in BMC ophthalmology (14.08.2024)
Published in BMC ophthalmology (14.08.2024)
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No association between SCN9A and monogenic human epilepsy disorders
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 genetics (20.11.2020)
Published in PLoS genetics (20.11.2020)
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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
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 European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
Ammous, Zineb, Rawlins, Lettie E, Jones, Hannah, Leslie, Joseph S, Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A, Ames, Ryan M, Cross, Harold E, Puffenberger, Erik G, Harries, Lorna, Baple, Emma L, Crosby, Andrew H
Published in PLoS genetics (27.09.2021)
Published in PLoS genetics (27.09.2021)
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Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
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 medical genetics (18.12.2019)
Published in BMC medical genetics (18.12.2019)
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A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism
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 biology (01.09.2020)
Published in Redox biology (01.09.2020)
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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy
Sullivan, Jeremy M, Motley, William W, Johnson, Janel O, Aisenberg, William H, Marshall, Katherine L, Barwick, Katy Es, Kong, Lingling, Huh, Jennifer S, Saavedra-Rivera, Pamela C, McEntagart, Meriel M, Marion, Marie-Helene, Hicklin, Lucy A, Modarres, Hamid, Baple, Emma L, Farah, Mohamed H, Zuberi, Aamir R, Lutz, Cathleen M, Gaudet, Rachelle, Traynor, Bryan J, Crosby, Andrew H, Sumner, Charlotte J
Published in The Journal of clinical investigation (01.03.2020)
Published in The Journal of clinical investigation (01.03.2020)
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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
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
Published in Scientific reports (13.09.2019)
Published in Scientific reports (13.09.2019)
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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
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
Published in BMC ophthalmology (10.05.2023)
Published in BMC ophthalmology (10.05.2023)
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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago
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
Published in Frontiers in genetics (22.03.2022)
Published in Frontiers in genetics (22.03.2022)
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Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L, Crosby, Andrew H, Harlalka, Gaurav V, Gul, Asma
Published in BMC medical genetics (23.08.2019)
Published in BMC medical genetics (23.08.2019)
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
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
Published in PLoS genetics (12.01.2017)
Published in PLoS genetics (12.01.2017)
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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
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 medical genetics (10.09.2018)
Published in BMC medical genetics (10.09.2018)
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Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder
Sala-Gaston, Joan, Pérez-Villegas, Eva M, Armengol, José A, Rawlins, Lettie E, Baple, Emma L, Crosby, Andrew H, Ventura, Francesc, Rosa, Jose Luis
Published in Cell death discovery (03.04.2024)
Published in Cell death discovery (03.04.2024)
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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
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 medical genetics (20.02.2018)
Published in BMC medical genetics (20.02.2018)
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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
Dawood, Muhammad, Lin, Siying, Din, Taj Ud, Shah, Irfan Ullah, Khan, Niamat, Jan, Abid, Marwan, Muhammad, Sultan, Komal, Nowshid, Maha, Tahir, Raheel, Ahmed, Asif Naveed, Yasin, Muhammad, Baple, Emma L, Crosby, Andrew H, Saleha, Shamim
Published in International journal of ophthalmology (18.12.2021)
Published in International journal of ophthalmology (18.12.2021)
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