Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Allen, Hana Lango, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Factors determining penetrance in familial atypical haemolytic uraemic syndrome
Sansbury, Francis H, Cordell, Heather J, Bingham, Coralie, Bromilow, Gilly, Nicholls, Anthony, Powell, Roy, Shields, Bev, Smyth, Lucy, Warwicker, Paul, Strain, Lisa, Wilson, Valerie, Goodship, Judith A, Goodship, Timothy H J, Turnpenny, Peter D
Published in Journal of medical genetics (01.11.2014)
Published in Journal of medical genetics (01.11.2014)
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Journal Article
AHDC1 missense mutations in Xia-Gibbs syndrome
Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.
Published in HGG advances (14.10.2021)
Published in HGG advances (14.10.2021)
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Journal Article
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Journal Article
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders
Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Published in Human molecular genetics (03.11.2023)
Published in Human molecular genetics (03.11.2023)
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Journal Article
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity
Smith, Philip S., West, Hannah, Whitworth, James, Castle, Bruce, Sansbury, Francis H., Warren, Anne Y., Woodward, Emma R., Tischkowitz, Marc, Maher, Eamonn R.
Published in Genes chromosomes & cancer (01.01.2021)
Published in Genes chromosomes & cancer (01.01.2021)
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Journal Article
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum
Edgerley, Katharine, Bryson, Lisa, Hanington, Lucy, Irving, Rachel, Joss, Shelagh, Lampe, Anne, Maystadt, Isabelle, Osio, Deborah, Richardson, Ruth, Split, Miranda, Sansbury, Francis H., Scurr, Ingrid, Stewart, Helen, McNeil, Alisdair, Low, Karen
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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Journal Article
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
Harris, Erica L., Roy, Vincent, Montagne, Martin, Rose, Ailsa M.S., Livesey, Helen, Reijnders, Margot R.F., Hobson, Emma, Sansbury, Francis H., Willemsen, Marjolein H., Pfundt, Rolph, Warren, Daniel, Long, Vernon, Carr, Ian M., Brunner, Han G., Sheridan, Eamonn G., Firth, Helen V., Lavigne, Pierre, Poulter, James A.
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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Journal Article
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H, Burke, Katherine B, Khan, Naz, Chandler, Kate E, Cooper, Nicola S, Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Journal Article
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Journal Article
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Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
Hamad, Asma, Sherlaw-Sturrock, Charlotte A., Glover, Kate, Salmon, Rachel, Low, Karen, Nair, Ramya, Sansbury, Francis H., Rawlins, LettieE, Carmichael, Jenny, Horton, Rachael, Wedderburn, Sarah, Edgerley, Katherine, Irving, Rachel, Callaghan, Mary, Mercer, Catherine, McGowan, Ruth, Robert, Leema, Titheradge, Hannah, Naik, Swati
Published in European journal of medical genetics (01.04.2023)
Published in European journal of medical genetics (01.04.2023)
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Journal Article
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
Radley, Jessica A., O'Sullivan, Rory B.G., Turton, Sarah E., Cox, Helen, Vogt, Julie, Morton, Jenny, Jones, Elizabeth, Smithson, Sarah, Lachlan, Katherine, Rankin, Julia, Clayton‐Smith, Jill, Willoughby, Josh, Elmslie, Frances F., Sansbury, Francis H., Cooper, Nicola, Balasubramanian, Meena
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
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Journal Article
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E., Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faletra, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet‐Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G., Thorstensen, Wenche M.
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Many patients have an identifiable genetic cause of Hirschsprung’s disease
Sansbury, Francis H, Ellard, Sian, Shaw-Smith, Charles, Turnpenny, Peter
Published in BMJ (Online) (03.12.2012)
Published in BMJ (Online) (03.12.2012)
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Journal Article
α-Amino Acid Phenolic Ester Derivatives: Novel Water-Soluble General Anesthetic Agents Which Allosterically Modulate GABAA Receptors
Anderson, Alison, Belelli, Delia, Bennett, D. Jonathan, Buchanan, Kirsteen I, Casula, Anna, Cooke, Andrew, Feilden, Helen, Gemmell, David K, Hamilton, Niall M, Hutchinson, Edward J, Lambert, Jeremy J, Maidment, Maurice S, McGuire, Ross, McPhail, Petula, Miller, Susan, Muntoni, Annalisa, Peters, John A, Sansbury, Francis H, Stevenson, Donald, Sundaram, Hardy
Published in Journal of medicinal chemistry (25.10.2001)
Published in Journal of medicinal chemistry (25.10.2001)
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Journal Article
Conformationally Constrained Anesthetic Steroids That Modulate GABAA Receptors
Anderson, Alison, Boyd, Andrew C, Clark, John K, Fielding, Lee, Gemmell, David K, Hamilton, Niall M, Maidment, Maurice S, May, Valerie, McGuire, Ross, McPhail, Petula, Sansbury, Francis H, Sundaram, Hardy, Taylor, Robert
Published in Journal of medicinal chemistry (02.11.2000)
Published in Journal of medicinal chemistry (02.11.2000)
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Journal Article
Erratum: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J
Published in European journal of human genetics : EJHG (12.11.2015)
Published in European journal of human genetics : EJHG (12.11.2015)
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Journal Article
Identifiable genetic causes
Sansbury, Francis H, Ellard, Sian, Shaw-Smith, Charles, Turnpenny, Peter
Published in BMJ (Online) (08.12.2012)
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Published in BMJ (Online) (08.12.2012)
Journal Article
Conformationally constrained anesthetic steroids that modulate GABA(A) receptors
Anderson, A, Boyd, AC, Clark, JK, Fielding, L, Gemmell, DK, Hamilton, NM, Maidment, MS, May, McGuire, R, McPhail, P, Sansbury, FH, Sundaram, H, Taylor, R
Published in Journal of medicinal chemistry (02.11.2000)
Published in Journal of medicinal chemistry (02.11.2000)
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Journal Article