DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Hartill, Verity L, van de Hoek, Glenn, Patel, Mitali P, Little, Rosie, Watson, Christopher M, Berry, Ian R, Shoemark, Amelia, Abdelmottaleb, Dina, Parkes, Emma, Bacchelli, Chiara, Szymanska, Katarzyna, Knoers, Nine V, Scambler, Peter J, Ueffing, Marius, Boldt, Karsten, Yates, Robert, Winyard, Paul J, Adler, Beryl, Moya, Eduardo, Hattingh, Louise, Shenoy, Anil, Hogg, Claire, Sheridan, Eamonn, Roepman, Ronald, Norris, Dominic, Mitchison, Hannah M, Giles, Rachel H, Johnson, Colin A
Published in Human molecular genetics (01.02.2018)
Published in Human molecular genetics (01.02.2018)
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Journal Article
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Journal Article
Unraveling the genetics of Joubert and Meckel-Gruber syndromes
Szymanska, Katarzyna, Hartill, Verity L., Johnson, Colin A.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2014)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2014)
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Journal Article
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations
Hartill, Verity L, Dillon, Mitchell W, Warren, Daniel J, Blyth, Moira
Published in Clinical dysmorphology (01.04.2017)
Published in Clinical dysmorphology (01.04.2017)
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Journal Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Meester, Josephina A. N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L. S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Published in Npj genomic medicine (26.03.2024)
Published in Npj genomic medicine (26.03.2024)
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Journal Article
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
Hartill, Verity L., Tysoe, Carolyn, Manning, Nigel, Dobbie, Angus, Santra, Saikat, Walter, John, Caswell, Richard, Koster, Janet, Waterham, Hans, Hobson, Emma
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Journal Article
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A
Published in Journal of medical genetics (01.05.2021)
Published in Journal of medical genetics (01.05.2021)
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Journal Article
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
Larsen, Ida Signe Bohse, Povolo, Lorenzo, Zhou, Luping, Tian, Weihua, Mygind, Kasper Johansen, Hintze, John, Jiang, Chen, Hartill, Verity, Prescott, Katrina, Johnson, Colin A, Mullegama, Sureni V, McConkie-Rosell, Allyn, McDonald, Marie, Hansen, Lars, Vakhrushev, Sergey Y, Schjoldager, Katrine T, Clausen, Henrik, Worzfeld, Thomas, Joshi, Hiren J, Halim, Adnan
Published in Proceedings of the National Academy of Sciences - PNAS (23.05.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (23.05.2023)
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Journal Article
1373 Rapid exome sequencing for acutely unwell children: experiences from Yorkshire regional genetics service
Lerou, Dimitra-Ilektra, Meng Yin Chen, Jasmine, Redman, Melody, Lam, Zena, Hartill, Verity, Campbell, Jennifer
Published in Archives of disease in childhood (01.10.2021)
Published in Archives of disease in childhood (01.10.2021)
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Journal Article
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project
Hartill, Verity, Kabir, Mitra, Best, Sunayna, Shaikh Qureshi, Wasay Mohiuddin, Baross, Stephanie L, Lord, Jenny, Yu, Jing, Sasaki, Erina, Needham, Hazel, Shears, Deborah, Roche, Matthew, Wall, Elizabeth, Cooper, Nicola, Ryan, Gavin, Eason, Jacqueline, Johnson, Robert, Keavney, Bernard, Hentges, Kathryn E, Johnson, Colin A
Published in European journal of human genetics : EJHG (26.11.2024)
Published in European journal of human genetics : EJHG (26.11.2024)
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Journal Article
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Published in Nature medicine (01.03.2023)
Published in Nature medicine (01.03.2023)
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Web Resource
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Miller, Kerry A, Cruz Walma, David A, Pinkas, Daniel M, Tooze, Rebecca S, Bufton, Joshua C, Richardson, William, Manning, Charlotte E, Hunt, Alice E, Cros, Julien, Hartill, Verity, Parker, Michael J, McGowan, Simon J, Twigg, Stephen R F, Chalk, Rod, Staunton, David, Johnson, David, Wilkie, Andrew O M, Bullock, Alex N
Published in Journal of medical genetics (31.01.2024)
Published in Journal of medical genetics (31.01.2024)
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Journal Article
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
A Machine Learning Classifier to Identify and Prioritise Genes Associated with Cardiac Development
Kabir, Mitra, Hartill, Verity, Farr, Gist H, Wasay Mohiuddin Shaikh Qureshi, Baross, Stephanie L, Doig, Andrew J, Talavera, David, Keavney, Bernard D, Maves, Lisa, Johnson, Colin A, Hentges, Kathryn E
Published in bioRxiv (08.11.2024)
Published in bioRxiv (08.11.2024)
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