Search Results - Emma L. Baple
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Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series by Ethan M. Scott, Brandon Smith, Joseph Liu, Karlee Hoffman, Jennifer Hershberger, Andew Crosby, Emma L. Baple, Olivia K. Wenger
Published in Molecular Genetics and Metabolism Reports (2024-12-01)Get full text
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Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder by Joan Sala-Gaston, Eva M. Pérez-Villegas, José A. Armengol, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Francesc Ventura, Jose Luis Rosa
Published in Cell Death Discovery (2024-04-01)Get full text
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Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan by Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Published in BMC Neurology (2024-10-01)Get full text
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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families by Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha
Published in BMC Neurology (2024-09-01)Get full text
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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families by Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
Published in BMC Ophthalmology (2023-05-01)Get full text
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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families by Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Shujaat Ali khan, Siying Lin, Emma L. Baple, Claire Salter, Andrew H. Crosby, Lettie Rawlins, Muhammad Imran Shabbir
Published in BMC Ophthalmology (2024-08-01)Get full text
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Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia by Reham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, David J. Evans, Joseph S. Leslie, Thomas T. Warner, Fida’ Al-Hijawi, Shurouq Alshaer, Wisam Baker, Peter D. Turnpenny, Emma L. Baple, Andrew H. Crosby
Published in Brain Sciences (2021-05-01)Get full text
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences by Michelle Peter, Michelle Peter, Rhiannon Mellis, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Wing Han Wu, Lyn S. Chitty, Lyn S. Chitty, Melissa Hill, Melissa Hill
Published in Frontiers in Genetics (2024-06-01)Get full text
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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. by Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
Published in PLoS Genetics (2021-09-01)Get full text
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Published in PLoS Genetics (2017-01-01)Get full text
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk
Published in EMBO Molecular Medicine (2024-11-01)Get full text
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mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node by Laura Mantoan Ritter, Nicholas M. P. Annear, Emma L. Baple, Leila Y. Ben-Chaabane, Istvan Bodi, Lauren Brosson, Jill E. Cadwgan, Bryn Coslett, Andrew H. Crosby, D. Mark Davies, Nicola Daykin, Stefanie Dedeurwaerdere, Christina Dühring Fenger, Elaine A. Dunlop, Frances V. Elmslie, Marie Girodengo, Sophie Hambleton, Anna C. Jansen, Simon R. Johnson, Kelly C. Kearley, John C. Kingswood, Liisi Laaniste, Katherine Lachlan, Andrew Latchford, Ralitsa R. Madsen, Sahar Mansour, Simeon R. Mihaylov, Louwai Muhammed, Claire Oliver, Tom Pepper, Lettie E. Rawlins, Ina Schim van der Loeff, Ata Siddiqui, Pooja Takhar, Katrina Tatton-Brown, Andrew R. Tee, Priyanka Tibarewal, Charlotte Tye, Sila K. Ultanir, Bart Vanhaesebroeck, Benjamin Zare, Deb K. Pal, Joseph M. Bateman
Published in Orphanet Journal of Rare Diseases (2025-05-01)Get full text
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