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  1. Harlalka, Gaurav V. [Author]; Baple, Emma L. [Author]; Cross, Harold [Author]; Kühnle, Simone [Author]; Cubillos-Rojas, Monica [Author]; Matentzoglu, Konstantin T. [Author]; Patton, Michael A. [Author]; Wagner, Karin [Author]; Coblentz, Roselyn [Author]; Ford, Debra L. [Author]; Mackay, Deborah J. G. [Author]; Chioza, Barry A. [Author]; Scheffner, Martin [Author]; Rosa, Jose Luis [Author]; Crosby, Andrew H. [Author]

    Mutation of HERC2 causes developmental delay with Angelman-like features

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    Konstanz: Bibliothek der Universität Konstanz, 2013

  2. Salter, Claire G. [Author]; Cai, Yiying [Author]; Lo, Bernice [Author]; Helman, Guy [Author]; Taylor, Henry [Author]; McCartney, Amber [Author]; Leslie, Joseph S [Author]; Accogli, Andrea [Author]; Zara, Federico [Author]; Traverso, Monica [Author]; Fasham, James [Author]; Lees, Joshua A [Author]; Ferla, Matteo P [Author]; Chioza, Barry A [Author]; Wenger, Olivia [Author]; Scott, Ethan [Author]; Cross, Harold E [Author]; Crawford, Joanna [Author]; Warshawsky, Ilka [Author]; Keisling, Matthew [Author]; Agamanolis, Dimitris [Author]; Ward Melver, Catherine [Author]; Cox, Helen [Author]; Elawad, Mamoun [Author]; [...]

    Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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    August 20, 2021

    Published in: Brain ; 144(2021), 12, Seite 3597-3610

  12. Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G.

    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

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    Wiley, 2013

    Published in: American Journal of Medical Genetics Part A

  15. 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

    Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

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    Springer Science and Business Media LLC, 2023

    Published in: BMC Ophthalmology

  16. 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

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

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    Springer Science and Business Media LLC, 2022

    Published in: Cellular and Molecular Life Sciences

  19. 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

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

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    Springer Science and Business Media LLC, 2019

    Published in: BMC Medical Genetics