The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis
Wade, Emma M., Halliday, Benjamin J., Jenkins, Zandra A., O'Neill, Adam C., Robertson, Stephen P.
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Expanding the molecular and clinical phenotypes of FUT8‐CDG
Ng, Bobby G., Dastsooz, Hassan, Silawi, Mohammad, Habibzadeh, Parham, Jahan, Shima B., Fard, Mohammad A. F., Halliday, Benjamin J., Raymond, Kimiyo, Ruzhnikov, Maura R. Z., Tabatabaei, Zahra, Taghipour‐Sheshdeh, Afsaneh, Brimble, Elise, Robertson, Stephen P., Faghihi, Mohammad A., Freeze, Hudson H.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Germline mutations and somatic inactivation of TRIM28 in Wilms tumour
Halliday, Benjamin J, Fukuzawa, Ryuji, Markie, David M, Grundy, Richard G, Ludgate, Jackie L, Black, Michael A, Skeen, Jane E, Weeks, Robert J, Catchpoole, Daniel R, Roberts, Aedan G K, Reeve, Anthony E, Morison, Ian M
Published in PLoS genetics (18.06.2018)
Published in PLoS genetics (18.06.2018)
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Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis
Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J, Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J M, Markie, David, Robertson, Stephen P, Wade, Emma M
Published in Genes (30.11.2020)
Published in Genes (30.11.2020)
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Published in HGG advances (01.10.2024)
Published in HGG advances (01.10.2024)
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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, Robertson, Stephen P.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Wilms tumor in patients with osteopathia striata with cranial sclerosis
Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J, García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M, Shinawi, Marwan, Willis, Daniel N, Robertson, Stephen P
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Harms, Frederike L., Parthasarathy, Padmini, Zorndt, Dennis, Alawi, Malik, Fuchs, Sigrid, Halliday, Benjamin J., McKeown, Colina, Sampaio, Hugo, Radhakrishnan, Natasha, Radhakrishnan, Suresh K., Gorce, Magali, Navet, Benjamin, Ziegler, Alban, Sachdev, Rani, Robertson, Stephen P., Nampoothiri, Sheela, Kutsche, Kerstin
Published in Human mutation (01.09.2020)
Published in Human mutation (01.09.2020)
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Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
Driver, Sean G W, Jackson, Meremaihi R, Richter, Konrad, Tomlinson, Paul, Brockway, Ben, Halliday, Benjamin J, Markie, David M, Robertson, Stephen P, Wade, Emma M
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
Pham, Duyen H., Pitman, Melissa R., Kumar, Raman, Jolly, Lachlan A., Schulz, Renee, Gardner, Alison E., Nys, Rebekah, Heron, Sarah E., Corbett, Mark A., Kothur, Kavitha, Gill, Deepak, Rajagopalan, Sulekha, Kolc, Kristy L., Halliday, Benjamin J., Robertson, Stephen P., Regan, Brigid M., Kirsch, Heidi E., Berkovic, Samuel F., Scheffer, Ingrid E., Pitson, Stuart M., Petrovski, Slave, Gecz, Jozef
Published in Human mutation (01.08.2021)
Published in Human mutation (01.08.2021)
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