Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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De novo SCN1A mutations in migrating partial seizures of infancy
Carranza Rojo, D, Hamiwka, L, McMahon, J M, Dibbens, L M, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J L, Yendle, S C, Berkovic, S F, Bienvenu, T, De Jonghe, P, Thorburn, D R, Mulley, J C, Mefford, H C, Scheffer, I E
Published in Neurology (26.07.2011)
Published in Neurology (26.07.2011)
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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
Collie, A M B, Landsverk, M L, Ruzzo, E, Mefford, H C, Buysse, K, Adkins, J R, Knutzen, D M, Barnett, K, Brown, R H, Parry, G J, Yum, S W, Simpson, D A, Olney, R K, Chinnery, P F, Eichler, E E, Chance, P F, Hannibal, M C
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Õunap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A
Published in Journal of medical genetics (01.08.2009)
Published in Journal of medical genetics (01.08.2009)
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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
Chatron, N, Møller, R.S, Champaigne, N.L, Kuechler, A, Labalme, A, Baggett, L, Wieczorek, D, Portes, V. des, Edery, P, Gardella, E, Scheffer, I.E, Mefford, H, Sanlaville, D, Carvill, G.L, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2
SCHUBERT, E. L, LEE, M. K, MEFFORD, H. C, ARGONZA, R. H, MORROW, J. E, HULL, J, DANN, J. L, KING, M.-C
Published in American journal of human genetics (01.05.1997)
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Published in American journal of human genetics (01.05.1997)
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Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes
MEFFORD, Heather C, LINARDOPOULOU, Elena, COIL, David, VAN DEN ENGH, Ger, TRASK, Barbara J
Published in Human molecular genetics (01.10.2001)
Published in Human molecular genetics (01.10.2001)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
LINARDOPOULOU, Elena, MEFFORD, Heather C, NGUYEN, Oanh, FRIEDMAN, Cynthia, VAN DEN ENGH, Ger, FARWELL, D. Greg, COLTRERA, Marc, TRASK, Barbara J
Published in Human molecular genetics (01.10.2001)
Published in Human molecular genetics (01.10.2001)
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Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry
Gygi, Melanie P., Ferguson, Mark D., Mefford, Heather C., Lund, Kevin P., O’Day, Christine, Zhou, Peiwen, Friedman, Cynthia, van den Engh, Ger, Stolowitz, Mark L., Trask, Barbara J.
Published in Nucleic acids research (01.07.2002)
Published in Nucleic acids research (01.07.2002)
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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Bachmann-Gagescu, Ruxandra, Mefford, Heather C., Cowan, Charles, Glew, Gwen M., Hing, Anne V., Wallace, Stephanie, Bader, Patricia I., Hamati, Aline, Reitnauer, Pamela J., Smith, Rosemarie, Stockton, David W., Muhle, Hiltrud, Helbig, Ingo, Eichler, Evan E., Ballif, Blake C., Rosenfeld, Jill, Tsuchiya, Karen D.
Published in Genetics in medicine (01.10.2010)
Published in Genetics in medicine (01.10.2010)
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Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry
Mefford, Heather C., Baumbach, Lisa, Panguluri, Ramesh C.K., Whitfield-Broome, Carolyn, Szabo, Csilla, Smith, Selena, King, Mary-Claire, Dunston, Georgia, Stoppa-Lyonnet, Dominique, Arena, Fernando
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, Pinkel, Dan, Cooper, Gregory M., Ventura, Mario, Ropers, H. Hilger, Tommerup, Niels, Eichler, Evan E., Bellanne-Chantelot, Christine
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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