Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome
Richards, Anna, Kemp, Elizabeth J., Liszewski, M. Kathryn, Goodship, Judith A., Lampe, Anne K., Decorte, Ronny, Müslümanoǧglu, M. Hamza, Kavukcu, Salih, Filler, Guido, Pirson, Yves, Wen, Leana S., Atkinson, John P., Timothy H. J. Goodship
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2003)
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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (04.04.2013)
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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
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Published in Journal of medical genetics (01.05.2022)
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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
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Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
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Published in Epilepsia (Copenhagen) (01.04.2017)
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Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation
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Published in The Journal of biological chemistry (24.01.2014)
Published in The Journal of biological chemistry (24.01.2014)
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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
Evers, Jochem M G, Laskowski, Roman A, Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A, Kingston, Helen, Kini, Usha, Lampe, Anne K, Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J, Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M, Wright, Caroline F
Published in Human molecular genetics (01.02.2017)
Published in Human molecular genetics (01.02.2017)
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Regulatory de novo mutations underlying intellectual disability
De Vas, Matias G, Boulet, Fanny, Joshi, Shweta S, Garstang, Myles G, Khan, Tahir N, Atla, Goutham, Parry, David, Moore, David, Cebola, Inês, Zhang, Shuchen, Cui, Wei, Lampe, Anne K, Lam, Wayne W, Ferrer, Jorge, Pradeepa, Madapura M, Atanur, Santosh S
Published in Life science alliance (01.05.2023)
Published in Life science alliance (01.05.2023)
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Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome
de Vries, Bert B. A, Ross, Shelley, Gécz, Jozef, Grompe, Markus, Clayton-Smith, Jill, Stewart, Helen, Lampe, Anne K, Gedeon, Ági K, White, Susan M, Thomas, Paul, Mulley, John C, Lower, Karen M, Turner, Gillian, Mathews, Katherine D, Schelley, Susan, van Ravenswaay, Conny M. A, Kerr, Bronwyn A, Shaw, Marie A, Hoyme, H. Eugene, Delatycki, Martin B, Cox, Barbara
Published in Nature genetics (01.12.2002)
Published in Nature genetics (01.12.2002)
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Published in Journal of medical genetics (01.10.2014)
Published in Journal of medical genetics (01.10.2014)
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)
Published in Genome medicine (28.02.2019)
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Heterozygous truncation mutations of the SMC 1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, Jelena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.
Published in Epilepsia (Copenhagen) (01.04.2017)
Published in Epilepsia (Copenhagen) (01.04.2017)
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Inherited Pain
Eberhardt, Mirjam, Nakajima, Julika, Klinger, Alexandra B., Neacsu, Cristian, Hühne, Kathrin, O'Reilly, Andrias O., Kist, Andreas M., Lampe, Anne K., Fischer, Kerstin, Gibson, Jane, Nau, Carla, Winterpacht, Andreas, Lampert, Angelika
Published in The Journal of biological chemistry (24.01.2014)
Published in The Journal of biological chemistry (24.01.2014)
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder, Jr, J, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (25.03.2019)
Published in Genome medicine (25.03.2019)
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Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome
Lower, K M, Turner, G, Kerr, BA, Mathews, K D, Shaw, MA, Gedeon, A K, Schelley, S, Hoyme, HE, White, S M, Delatycki, M B, Lampe, A K, Clayton-Smith, J, Stewart, H, Gecz, J
Published in Nature genetics (01.12.2002)
Published in Nature genetics (01.12.2002)
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De novo variants in population constrained fetal brain enhancers and intellectual disability
De Vas, Matis G, Garstang, Myles G, Joshi, Shweta S, Khan, Tahir, Atla, Goutham, Parry, David, Moore, David, Cebola, Ines, Zhang, Shuchen, Cui, Wei, Lampe, Anne K, Lam, Wayne W, Fitzpatrick, David R, Ferrer, Jorge, Madapura, Pradeepa M, Atanur, Santosh S
Published in bioRxiv (08.09.2019)
Published in bioRxiv (08.09.2019)
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