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Research Output

2020

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

Happ, H. C. & Carvill, G. L., Mar 1 2020, In : Epilepsy Currents. 20, 2, p. 90-96 7 p.

Research output: Contribution to journalReview article

Open Access
1 Scopus citations

CACNA1H variants are not a cause of monogenic epilepsy

Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In : Human mutation. 41, 6, p. 1138-1144 7 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M. & 25 others, Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C. & Kruer, M. C., Jul 1 2020, In : Human mutation. 41, 7, p. 1263-1279 17 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation

Bryant, E. M., Millichap, J. J., Spinelli, E., Calhoun, J. D., Miller, C., Giannelli, J., Wolak, J., Sanders, V., Carvill, G. L. & Charrow, J., Jun 1 2020, In : American Journal of Medical Genetics, Part A. 182, 6, p. 1460-1465 6 p.

Research output: Contribution to journalArticle

The path from scientific discovery to cures for epilepsy

Carvill, G. L., Dulla, C. G., Lowenstein, D. H. & Brooks-Kayal, A. R., May 1 2020, In : Neuropharmacology. 167, 107702.

Research output: Contribution to journalReview article

1 Scopus citations
2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, UK10K Consortium & NIHR BioResource, May 2 2019, In : American journal of human genetics. 104, 5, p. 948-956 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E

Carvill, G. L., May 1 2019, In : Epilepsy Currents. 19, 3, p. 199-201 3 p.

Research output: Contribution to journalComment/debate

Genetic Mosaicism in Calmodulinopathy

Wren, L. M., Jiménez-Jáimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., Kaski, J. P., Crotti, L., Perin, F., Monserrat, L., Burridge, P. W., Schwartz, P. J., Chazin, W. J., Bhuiyan, Z. A. & 1 others, George, A. L., Sep 1 2019, In : Circulation: Genomic and Precision Medicine. 12, 9, p. 375-385 11 p., e002581.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Truty, R., Patil, N., Sankar, R., Sullivan, J., Millichap, J., Carvill, G., Entezam, A., Esplin, E. D., Fuller, A., Hogue, M., Johnson, B., Khouzam, A., Kobayashi, Y., Lewis, R., Nykamp, K., Riethmaier, D., Westbrook, J., Zeman, M., Nussbaum, R. L. & Aradhya, S., 2019, In : Epilepsia Open. 4, 3, p. 397-408 12 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Cowley, M. J., Liu, Y. C., Oliver, K. L., Carvill, G., Myers, C. T., Gayevskiy, V., Delatycki, M., Vlaskamp, D. R. M., Zhu, Y., Mefford, H., Buckley, M. F., Bahlo, M., Scheffer, I. E., Dinger, M. E. & Roscioli, T., Apr 2019, In : Human mutation. 40, 4, p. 374-379 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

SCN8A: When Neurons Are So Excited, They Just Can’t Hide It

Gertler, T. S. & Carvill, G. L., Jul 1 2019, In : Epilepsy Currents. 19, 4, p. 269-271 3 p.

Research output: Contribution to journalArticle

Open Access
2018

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Dec 6 2018, In : American journal of human genetics. 103, 6, p. 1022-1029 8 p.

Research output: Contribution to journalArticle

14 Scopus citations

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., Van Bon, B. W., Claahsen-Van Der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., Van De Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & De Vries, B. B. A., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticle

11 Scopus citations

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

University of Washington Center for Mendelian Genomics, Nov 1 2018, In : Genetics in Medicine. 20, 11, p. 1354-1364 11 p.

Research output: Contribution to journalArticle

18 Scopus citations

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

the Victorian Severe Epilepsy of Infancy Study Group, Jun 2018, In : Epilepsia. 59, 6, p. 1177-1187 11 p.

Research output: Contribution to journalArticle

21 Scopus citations

Chromatin remodeling proteins in epilepsy: Lessons from CHD2-associated epilepsy

Lamar, K. M. J. & Carvill, G. L., Jun 15 2018, In : Frontiers in Molecular Neuroscience. 11, 208.

Research output: Contribution to journalReview article

9 Scopus citations

Clinical application of epilepsy genetics in Africa: Is now the time?

Esterhuizen, A. I., Carvill, G. L., Ramesar, R. S., Kariuki, S. M., Newton, C. R., Poduri, A. & Wilmshurst, J. M., May 2 2018, In : Frontiers in Neurology. 9, MAY, 276.

Research output: Contribution to journalArticle

2 Scopus citations

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 32 others, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I., Rubboli, G., Mefford, H. C. & Møller, R. S., Feb 1 2018, In : Epilepsia. 59, 2, p. 389-402 14 p.

Research output: Contribution to journalArticle

17 Scopus citations

Dravet syndrome in South African infants: Tools for an early diagnosis

Esterhuizen, A. I., Mefford, H. C., Ramesar, R. S., Wang, S., Carvill, G. L. & Wilmshurst, J. M., Nov 2018, In : Seizure. 62, p. 99-105 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

KCNT1-Related Epilepsy

Gertler, T., Bearden, D., Bhattacharjee, A. & Carvill, G., 2018, GeneReviews((R)). Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S. E., Bean, L. J. H., Stephens, K. & Amemiya, A. (eds.). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Research output: Chapter in Book/Report/Conference proceedingChapter

Parental mosaicism in “De Novo” epileptic encephalopathies

Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., Lacroix, A., Mehaffey, M. G., Berkovic, S. F., Carvill, G. L., Sadleir, L. G., Scheffer, I. E. & Mefford, H. C., Apr 26 2018, In : New England Journal of Medicine. 378, 17

Research output: Contribution to journalLetter

31 Scopus citations

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Carvill, G. L., Liu, A., Mandelstam, S., Schneider, A., Lacroix, A., Zemel, M., McMahon, J. M., Bello-Espinosa, L., Mackay, M., Wallace, G., Waak, M., Zhang, J., Yang, X., Malone, S., Zhang, Y. H., Mefford, H. C. & Scheffer, I. E., Jan 1 2018, In : Epilepsia. 59, 1, p. e5-e13

Research output: Contribution to journalArticle

23 Scopus citations

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A. L., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E. J., Pfundt, R., Romano, C., Aronsson, J., Alberti, A., Vinci, M., Miranda, M. J., Lacroix, A., Marjanovic, D., des Portes, V., Edery, P. & 7 others, Wieczorek, D., Gardella, E., Scheffer, I. E., Mefford, H., Sanlaville, D., Carvill, G. L. & Lesca, G., May 2018, In : Annals of neurology. 83, 5, p. 926-934 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era

Calhoun, J. D. & Carvill, G. L., Oct 2 2018, In : Journal of Neurogenetics. 32, 4, p. 295-312 18 p.

Research output: Contribution to journalReview article

3 Scopus citations
2017

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., Devile, C., Kurian, M. A., Mandelstam, S., Wirrell, E., Nickels, K. C., Murali, H. R., Carvill, G., Myers, C. T., Mefford, H. C. & Scheffer, I. E., Sep 5 2017, In : Neurology. 89, 10, p. 1035-1042 8 p.

Research output: Contribution to journalArticle

30 Scopus citations
2016

A targeted resequencing gene panel for focal epilepsy

Hildebrand, M. S., Myers, C. T., Carvill, G. L., Regan, B. M., Damiano, J. A., Mullen, S. A., Newton, M. R., Nair, U., Gazina, E. V., Milligan, C. J., Reid, C. A., Petrou, S., Scheffer, I. E., Berkovic, S. F. & Mefford, H. C., Apr 26 2016, In : Neurology. 86, 17, p. 1605-1612 8 p.

Research output: Contribution to journalArticle

31 Scopus citations

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Lugtenberg, D., Reijnders, M. R. F., Fenckova, M., Bijlsma, E. K., Bernier, R., Van Bon, B. W. M., Smeets, E., Vulto-van Silfhout, A. T., Bosch, D., Eichler, E. E., Mefford, H. C., Carvill, G. L., Bongers, E. M. H. F., Schuurs-Hoeijmakers, J. H. M., Ruivenkamp, C. A., Santen, G. W. E., Van Den Maagdenberg, A. M. J. M., Peeters-Scholte, C. M. P. C. D., Kuenen, S., Verstreken, P. & 10 others, Pfundt, R., Yntema, H. G., De Vries, P. F., Veltman, J. A., Hoischen, A., Gilissen, C., De Vries, B. B. A., Schenck, A., Kleefstra, T. & Vissers, L. E. L. M., Aug 1 2016, In : European Journal of Human Genetics. 24, 8, p. 1145-1153 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., Hollingsworth, G., Nikanorova, M., Corbett, M., Gecz, J., Coman, D., Freeman, J., Calvert, S., Gill, D., Carney, P., Lerman-Sagie, T. & 25 others, Sampaio, H., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Johnson, M. R., Kuzniecky, R., Marson, A. G., O'Brien, T. J., Ottman, R., Petrou, S., Poduri, A., Pickrell, W. O., Chung, S. K., Rees, M. I., Sherr, E., Sadleir, L. G., Goldstein, D. B., Lowenstein, D. H., Møller, R. S., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., Aug 4 2016, In : American journal of human genetics. 99, 2, p. 287-298 12 p.

Research output: Contribution to journalArticle

102 Scopus citations

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Corbett, M. A., Bellows, S. T., Li, M., Carroll, R., Micallef, S., Carvill, G. L., Myers, C. T., Howell, K. B., Maljevic, S., Lerche, H., Gazina, E. V., Mefford, H. C., Bahlo, M., Berkovic, S. F., Petrou, S., Scheffer, I. E. & Gecz, J., Nov 8 2016, In : Neurology. 87, 19, p. 1975-1984 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., De Bellescize, J., Scholly, J., Møller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P. & 21 others, Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H. M., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 1 2016, In : European Journal of Human Genetics. 24, 12, p. 1761-1770 10 p.

Research output: Contribution to journalArticle

10 Scopus citations

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Afawi, Z., Oliver, K. L., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M. Y., Helbig, K. L., Goldberg-Stern, H., Misk, A. J., Straussberg, R., Walid, S., Mahajnah, M., Lerman-Sagie, T., Ben-Zeev, B., Kahana, E., Masalha, R., Kramer, U., Ekstein, D., Shorer, Z., Wallace, R. H. & 14 others, Mangelsdorf, M., MacPherson, J. N., Carvill, G. L., Mefford, H. C., Jackson, G. D., Scheffer, I. E., Bahlo, M., Gecz, J., Heron, S. E., Corbett, M., Mulley, J. C., Dibbens, L. M., Korczyn, A. D. & Berkovic, S. F., Feb 23 2016, In : Neurology. 86, 8, p. 713-722 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

Pitfalls in genetic testing: The story of missed SCN1A mutations

EuroEPINOMICS-RES Dravet working group, Jul 1 2016, In : Molecular Genetics and Genomic Medicine. 4, 4, p. 457-464 8 p.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations
2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., Scheffer, I. E. & EuroEPINOMICS Consortium, Mar 3 2015, In : Neurology. 84, 9, p. 951-958 8 p.

Research output: Contribution to journalArticle

33 Scopus citations

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., Leventer, R. J., Harvey, A. S., Mullen, S. A., Berkovic, S. F., Sullivan, J., Scheffer, I. E. & Mefford, H. C., Aug 2015, In : Neurology: Genetics. 1, 2, e17.

Research output: Contribution to journalArticle

33 Scopus citations

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

Vulto-van Silfhout, A. T., Rajamanickam, S., Jensik, P. J., Vergult, S., de Rocker, N., Newhall, K. J., Raghavan, R., Reardon, S. N., Jarrett, K., McIntyre, T., Bulinski, J., Ownby, S. L., Huggenvik, J. I., McKnight, G. S., Rose, G. M., Cai, X., Willaert, A., Zweier, C., Endele, S., de Ligt, J. & 16 others, van Bon, B. W. M., Lugtenberg, D., de Vries, P. F., Veltman, J. A., van Bokhoven, H., Brunner, H. G., Rauch, A., de Brouwer, A. P. M., Carvill, G. L., Hoischen, A., Mefford, H. C., Eichler, E. E., Vissers, L. E. L. M., Menten, B., Collard, M. W. & de Vries, B. B. A., Jan 8 2015, In : American Journal of Human Genetics. 96, 1, 1 p.

Research output: Contribution to journalComment/debate

Mutations in KCNT1 cause a spectrum of focal epilepsies

Møller, R. S., Heron, S. E., Larsen, L. H. G., Lim, C. X., Ricos, M. G., Bayly, M. A., Van Kempen, M. J. A., Klinkenberg, S., Andrews, I., Kelley, K., Ronen, G. M., Callen, D., McMahon, J. M., Yendle, S. C., Carvill, G. L., Mefford, H. C., Nabbout, R., Poduri, A., Striano, P., Baglietto, M. G. & 11 others, Zara, F., Smith, N. J., Pridmore, C., Gardella, E., Nikanorova, M., Dahl, H. A., Gellert, P., Scheffer, I. E., Gunning, B., Kragh-Olsen, B. & Dibbens, L. M., Sep 1 2015, In : Epilepsia. 56, 9, p. e114-e120

Research output: Contribution to journalArticle

56 Scopus citations

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., Mecarelli, O., Smith, R. L., Leventer, R. J., Møller, R. S., Nikanorova, M., Dimova, P., Jordanova, A., Petrou, S., Helbig, I., Striano, P. & 4 others, Weckhuysen, S., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., May 7 2015, In : American journal of human genetics. 96, 5, p. 808-815 8 p.

Research output: Contribution to journalArticle

78 Scopus citations

SCN2A encephalopathy

Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., Olson, H. E., Mandelstam, S., Poduri, A., Mefford, H. C., Harvey, A. S. & Scheffer, I. E., Sep 15 2015, In : Neurology. 85, 11, p. 958-966 9 p.

Research output: Contribution to journalArticle

109 Scopus citations

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

Paemka, L., Mahajan, V. B., Ehaideb, S. N., Skeie, J. M., Tan, M. C., Wu, S., Cox, A. J., Sowers, L. P., Gecz, J., Jolly, L., Ferguson, P. J., Darbro, B., Schneider, A., Scheffer, I. E., Carvill, G. L., Mefford, H. C., El-Shanti, H., Wood, S. A., Manak, J. R. & Bassuk, A. G., Mar 12 2015, In : PLoS genetics. 11, 3, e1005022.

Research output: Contribution to journalArticle

37 Scopus citations

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., Kirkpatrick, M., Goudie, D., Goldman, R., Jähn, J. A., Jepsen, B., Gill, D., Döcker, M., Biskup, S., McMahon, J. M., Koeleman, B. & 17 others, Harris, M., Braun, K., De Kovel, C. G. F., Marini, C., Specchio, N., Djémié, T., Weckhuysen, S., Tommerup, N., Troncoso, M., Troncoso, L., Bevot, A., Wolff, M., Hjalgrim, H., Guerrini, R., Scheffer, I. E., Mefford, H. C. & Møller, R. S., 2015, In : Neurology. 84, 5, p. 480-489 10 p.

Research output: Contribution to journalArticle

137 Scopus citations
2014

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., Hudspith, K. A., Broxholme, J., Kanapin, A., Cazier, J. B., Kinoshita, T., Nabbout, R., Bentley, D., McVean, G. & 12 others, Heavin, S., Zaiwalla, Z., McShane, T., Mefford, H. C., Shears, D., Stewart, H., Kurian, M. A., Scheffer, I. E., Blair, E., Donnelly, P., Kaczmarek, L. K. & Taylor, J. C., 2014, In : Human molecular genetics. 23, 12, p. 3200-3211 12 p.

Research output: Contribution to journalArticle

147 Scopus citations

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Carvill, G. L., Weckhuysen, S., McMahon, J. M., Hartmann, C., Møller, R. S., Hjalgrim, H., Cook, J., Geraghty, E., O'Roak, B. J., Petrou, S., Clarke, A., Gill, D., Sadleir, L. G., Muhle, H., Von Spiczak, S., Nikanorova, M., Hodgson, B. L., Gazina, E. V., Suls, A., Shendure, J. & 6 others, Dibbens, L. M., De Jonghe, P., Helbig, I., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., Apr 8 2014, In : Neurology. 82, 14, p. 1245-1253 9 p.

Research output: Contribution to journalArticle

138 Scopus citations

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Vulto-Van Silfhout, A. T., Rajamanickam, S., Jensik, P. J., Vergult, S., De Rocker, N., Newhall, K. J., Raghavan, R., Reardon, S. N., Jarrett, K., McIntyre, T., Bulinski, J., Ownby, S. L., Huggenvik, J. I., McKnight, G. S., Rose, G. M., Cai, X., Willaert, A., Zweier, C., Endele, S., De Ligt, J. & 16 others, Van Bon, B. W. M., Lugtenberg, D., De Vries, P. F., Veltman, J. A., Van Bokhoven, H., Brunner, H. G., Rauch, A., De Brouwer, A. P. M., Carvill, G. L., Hoischen, A., Mefford, H. C., Eichler, E. E., Vissers, L. E. L. M., Menten, B., Collard, M. W. & De Vries, B. B. A., May 1 2014, In : American journal of human genetics. 94, 5, p. 649-661 13 p.

Research output: Contribution to journalArticle

42 Scopus citations

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., Van Bon, B. W. M., Vulto-Van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., Pfundt, R., Krumm, N., Carvill, G. L., Li, D., Amaral, D., Brown, N., Lockhart, P. J., Scheffer, I. E. & 19 others, Alberti, A., Shaw, M., Pettinato, R., Tervo, R., De Leeuw, N., Reijnders, M. R. F., Torchia, B. S., Peeters, H., Thompson, E., O'Roak, B. J., Fichera, M., Hehir-Kwa, J. Y., Shendure, J., Mefford, H. C., Haan, E., Gécz, J., De Vries, B. B. A., Romano, C. & Eichler, E. E., Sep 26 2014, In : Nature Genetics. 46, 10, p. 1063-1071 9 p.

Research output: Contribution to journalArticle

274 Scopus citations

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., Bucher, B., Lim, F. Y., Pietsch, J., Stolar, C., Aspelund, G., Arkovitz, M. S., Mefford, H. & Chung, W. K., Jan 10 2014, In : Journal of medical genetics. 51, 3, p. 197-202 6 p.

Research output: Contribution to journalArticle

29 Scopus citations
2013

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E. & Mefford, H. C., Oct 22 2013, In : Neurology. 81, 17, p. 1507-1514 8 p.

Research output: Contribution to journalArticle

83 Scopus citations

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Carvill, G. L., Regan, B. M., Yendle, S. C., O'Roak, B. J., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Sadleir, L. G., Turner, S. J., Tsai, M. H., Webster, R., Ouvrier, R., Damiano, J. A., Berkovic, S. F., Shendure, J., Hildebrand, M. S., Szepetowski, P. & 2 others, Scheffer, I. E. & Mefford, H. C., Sep 1 2013, In : Nature Genetics. 45, 9, p. 1073-1076 4 p.

Research output: Contribution to journalArticle

194 Scopus citations

Microdeletion syndromes

Carvill, G. L. & Mefford, H. C., Jun 1 2013, In : Current Opinion in Genetics and Development. 23, 3, p. 232-239 8 p.

Research output: Contribution to journalReview article

27 Scopus citations

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

Paemka, L., Mahajan, V. B., Skeie, J. M., Sowers, L. P., Ehaideb, S. N., Gonzalez-Alegre, P., Sasaoka, T., Tao, H., Miyagi, A., Ueno, N., Takao, K., Miyakawa, T., Wu, S., Darbro, B. W., Ferguson, P. J., Pieper, A. A., Britt, J. K., Wemmie, J. A., Rudd, D. S., Wassink, T. & 5 others, El-Shanti, H., Mefford, H. C., Carvill, G. L., Robert Manak, J. & Bassuk, A. G., Dec 3 2013, In : PloS one. 8, 12, e80737.

Research output: Contribution to journalArticle

25 Scopus citations

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., Stanley, T., Bye, A. M. E., Bleasel, A., Howell, K. B., Kivity, S., Mackay, M. T., Rodriguez-Casero, V., Webster, R. & 14 others, Korczyn, A., Afawi, Z., Zelnick, N., Lerman-Sagie, T., Lev, D., Møller, R. S., Gill, D., Andrade, D. M., Freeman, J. L., Sadleir, L. G., Shendure, J., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., Jul 1 2013, In : Nature Genetics. 45, 7, p. 825-830 6 p.

Research output: Contribution to journalArticle

379 Scopus citations