Jozef Gecz

Research output

Research output per year 1988 2004 2007 2008 2010 2012 2013 2015 2016 2017 2018 2019 2020 2021 2022 2023

• 302 Article
• 25 Review article
• 14 Comment/debate
• 12 Letter
• 8 More
  • 5 Chapter
  • 2 Editorial
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2023

  Aicardi Syndrome Is a Genetically Heterogeneous Disorder

  Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., Ivancevic, A. M., Pham, D., Kumar, R., Smith, N., Patel, C., Malone, S., Ryan, M. M., Calvert, S., van Eyk, C. L., Lardelli, M., Berkovic, S. F., Leventer, R. J., Richards, L. J., Scheffer, I. E., & 2 othersGecz, J. & Corbett, M. A., Aug 2023, In: Genes. 14, 8, 1565.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

  Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., Spurdle, A. B., Hansen, D. P., Hofmann, O., Laing, N., Metcalfe, S., Newson, A. J., Scott, H. S., Thorne, N., Ward, R. L., Dinger, M. E., Best, S., Long, J. C., Grimmond, S. M., Pearson, J., & 38 othersWaddell, N., Barnett, C. P., Cook, M., Field, M., Fielding, D., Fox, S. B., Gecz, J., Jaffe, A., Leventer, R. J., Lockhart, P. J., Lunke, S., Mallett, A. J., McGaughran, J., Mileshkin, L., Nones, K., Roscioli, T., Scheffer, I. E., Semsarian, C., Simons, C., Thomas, D. M., Thorburn, D. R., Tothill, R., White, D., Dunwoodie, S., Simpson, P. T., Phillips, P., Brion, M. J., Finlay, K., Quinn, M. CJ., Mattiske, T., Tudini, E., Boggs, K., Murray, S., Wells, K., Cannings, J., Sinclair, A. H., Christodoulou, J. & North, K. N., 2 Mar 2023, In: American Journal of Human Genetics. 110, 3, p. 419-426 8 p.

  Research output: Contribution to journal › Review article › peer-review
  3 Citations (Scopus)

• Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

  Corbett, M. A., Depienne, C., Veneziano, L., Klein, K. M., Brancati, F., Guerrini, R., Zara, F., Tsuji, S. & Gecz, J., 2023, (Accepted/In press) In: Epilepsia.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)

• Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

  Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network, Gecz, J. & Perez-Jurado, L. A., Jan 2023, In: Nature Medicine. 29, 1, p. 180-189 10 p.

  Research output: Contribution to journal › Article › peer-review
  7 Citations (Scopus)

• Macrocephaly and developmental delay caused by missense variants in RAB5C

  Undiagnosed Diseases Network & Gecz, J., 17 Oct 2023, In: Human molecular genetics. 32, 21, p. 3063-3077 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy

  Sullivan, J., Gunning, B., Zafar, M., Guerrini, R., Gecz, J., Kolc, K. L., Zhao, Y., Gasior, M., Aimetti, A. A. & Samanta, D., 1 Mar 2023, In: Epilepsy Research. 191, p. 107112 1 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)

• Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

  van Eyk, C. L., Fahey, M. C. & Gecz, J., 2023, (Accepted/In press) In: Nature Reviews Neurology.

  Research output: Contribution to journal › Review article › peer-review

• The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

  Brazane, M., Dimitrova, D. G., Pigeon, J., Paolantoni, C., Ye, T., Marchand, V., Da Silva, B., Schaefer, E., Angelova, M. T., Stark, Z., Delatycki, M., Dudding-Byth, T., Gecz, J., Plaçais, P. Y., Teysset, L., Préat, T., Piton, A., Hassan, B. A., Roignant, J. Y., Motorin, Y., & 1 othersCarré, C., 1 Apr 2023, In: Life Science Alliance. 6, 4

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)
• 2022

  Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

  Undiagnosed Diseases Network, 3 Mar 2022, In: American Journal of Human Genetics. 109, 3, p. 518-532 15 p.

  Research output: Contribution to journal › Article › peer-review
  4 Citations (Scopus)

• Common data elements to standardize genomics studies in cerebral palsy

  ICPGC Phenotype Working Group, Wilson, Y. A., Smithers-Sheedy, H., Ostojic, K., Waight, E., Kruer, M. C., Fahey, M. C., Baynam, G., Gécz, J., Badawi, N. & McIntyre, S., 2022, (Accepted/In press) In: Developmental Medicine and Child Neurology.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Citations (Scopus)

• Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines

  Kumar, R., Kamath, K. S., Carroll, L., Hoffmann, P., Gecz, J. & Jolly, L. A., 16 Dec 2022, In: STAR Protocols. 3, 4, 101693.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Citations (Scopus)

• Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy

  Bennett, M. F., Hildebrand, M. S., Kayumi, S., Corbett, M. A., Gupta, S., Ye, Z., Krivanek, M., Burgess, R., Henry, O. J., Damiano, J. A., Boys, A., Gécz, J., Bahlo, M., Scheffer, I. E. & Berkovic, S. F., 25 Feb 2022, In: Neurology: Genetics. 8, 1, e652.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  10 Citations (Scopus)

• Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

  Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A., & 72 othersFriez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 2022, (Accepted/In press) In: Human mutation.

  Research output: Contribution to journal › Article › peer-review
  12 Citations (Scopus)

• Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

  Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A. D., & 55 othersBakhtiari, S., Deardorff, M., Dubbs, H. A., Izumi, K., Grand, K., Gray, C., Mark, P. R., Bhoj, E. J., Li, D., Ortiz-Gonzalez, X. R., Keena, B., Zackai, E. H., Goldberg, E. M., Perez de Nanclares, G., Pereda, A., Llano-Rivas, I., Arroyo, I., Fernández-Cuesta, M. Á., Thauvin-Robinet, C., Faivre, L., Garde, A., Mazel, B., Bruel, A. L., Tress, M. L., Brilstra, E., Fine, A. S., Crompton, K. E., Stegmann, A. P. A., Sinnema, M., Stevens, S. C. J., Nicolai, J., Lesca, G., Lion-François, L., Haye, D., Chatron, N., Piton, A., Nizon, M., Cogne, B., Srivastava, S., Bassetti, J., Muss, C., Gripp, K. W., Procopio, R. A., Millan, F., Morrow, M. M., Assaf, M., Moreno-De-Luca, A., Joss, S., Hamilton, M. J., Bertoli, M., Foulds, N., McKee, S., MacLennan, A. H., Gecz, J. & Corbett, M. A., Nov 2022, In: Genetics in Medicine. 24, 11, p. 2351-2366 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Citations (Scopus)

• In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

  Li, N., Zhou, P., Tang, H., He, L., Fang, X., Zhao, J., Wang, X., Qi, Y., Sun, C., Lin, Y., Qin, F., Yang, M., Zhang, Z., Liao, C., Zheng, S., Peng, X., Xue, T., Zhu, Q., Li, H., Li, Y., & 10 othersLiu, L., Huang, J., Liu, L., Peng, C., Kaindl, A. M., Gecz, J., Han, D., Liu, D., Xu, K. & Hu, H., 1 Jan 2022, In: Brain. 145, 1, p. 119-141 23 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  27 Citations (Scopus)

• Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

  Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., & 67 othersHilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, 100075.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  47 Citations (Scopus)

• Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

  Kumar, R., Corbett, M. A., Smith, N. J. C., Hock, D. H., Kikhtyak, Z., Semcesen, L. N., Morimoto, A., Lee, S., Stroud, D. A., Gleeson, J. G., Haan, E. A. & Gecz, J., Dec 2022, In: npj Genomic Medicine. 7, 1, 9.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Citations (Scopus)

• People with Cerebral Palsy and Their Family's Preferences about Genomics Research

  Wilson, Y. A., McIntyre, S., Waight, E., Thornton, M., Van Otterloo, S., Marmont, S. R., Kruer, M., Baynam, G., Gecz, J. & Badawi, N., 17 Jan 2022, In: Public Health Genomics. 25, 1-2, p. 22-31 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)

• SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

  El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A. R., Kim, H. M., Wessels, M., Bayat, A., & 20 othersJaén, A. F., Selicorni, A., Maitz, S., de Brouwer, A. P. M., Silfhout, A. V. V., Armstrong, M., Symonds, J., Küry, S., Isidor, B., Cogné, B., Nizon, M., Feger, C., Muller, J., Torti, E., Grange, D. K., Willems, M., Kruer, M. C., Ko, J., Piton, A. & Um, J. W., Dec 2022, In: Nature Communications. 13, 1, 4112.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Citations (Scopus)

• Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

  Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., & 17 othersTran Mau-Them, F., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A. & Depienne, C., Dec 2022, In: Nature Communications. 13, 1, 6570.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Citations (Scopus)

• The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders

  Jolly, L. A., Kumar, R., Penzes, P., Piper, M. & Gecz, J., 2022, (Accepted/In press) In: Biological Psychiatry.

  Research output: Contribution to journal › Review article › peer-review
  5 Citations (Scopus)

• Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes

  Blue, G. M., Mekel, M., Das, D., Troup, M., Rath, E., Ip, E., Gudkov, M., Perumal, G., Harvey, R. P., Sholler, G. F., Gecz, J., Kirk, E. P., Liu, J., Giannoulatou, E., Hong, H., Dunwoodie, S. L. & Winlaw, D. S., Feb 2022, In: American Heart Journal. 244, p. 1-13 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  9 Citations (Scopus)
• 2021

  A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

  Jones, J. L., Corbett, M. A., Yeaman, E., Zhao, D., Gecz, J., Gasperini, R. J., Charlesworth, J. C., Mackey, D. A., Elder, J. E., Craig, J. E. & Burdon, K. P., Aug 2021, In: European Journal of Human Genetics. 29, 8, p. 1206-1215 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  3 Citations (Scopus)

• Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

  Heron, S. E., Regan, B. M., Harris, R. V., Gardner, A. E., Coleman, M. J., Bennett, M. F., Grinton, B. E., Helbig, K. L., Sperling, M. R., Haut, S., Geller, E. B., Widdess-Walsh, P., Pelekanos, J. T., Bahlo, M., Petrovski, S., Heinzen, E. L., Hildebrand, M. S., Corbett, M. A., Scheffer, I. E., Gécz, J., & 1 othersBerkovic, S. F., 4 May 2021, In: Neurology. 96, 18, p. e2251-e2260

  Research output: Contribution to journal › Article › peer-review
  12 Citations (Scopus)

• Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

  Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 57 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature Genetics. 53, 3, p. 412 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
  1 Citation (Scopus)

• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

  Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., & 85 othersRodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., 7 Oct 2021, In: American Journal of Human Genetics. 108, 10, p. 2006-2016 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  6 Citations (Scopus)

• Cerebral palsy with autism and ADHD: time to pay attention

  Gecz, J. & Berry, J. G., Mar 2021, In: Developmental Medicine and Child Neurology. 63, 3, p. 247-248 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
  3 Citations (Scopus)

• Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

  Field, M. J., Kumar, R., Hackett, A., Kayumi, S., Shoubridge, C. A., Ewans, L. J., Ivancevic, A. M., Dudding-Byth, T., Carroll, R., Kroes, T., Gardner, A. E., Sullivan, P., Ha, T. T., Schwartz, C. E., Cowley, M. J., Dinger, M. E., Palmer, E. E., Christie, L., Shaw, M., Roscioli, T., & 2 othersGecz, J. & Corbett, M. A., Jul 2021, In: Human mutation. 42, 7, p. 835-847 13 p.

  Research output: Contribution to journal › Article › peer-review

• Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)

  Mincheva-Tasheva, S., Nieto Guil, A. F., Homan, C. C., Gecz, J. & Thomas, P. Q., May 2021, In: Molecular Neurobiology. 58, 5, p. 2005-2018 14 p.

  Research output: Contribution to journal › Article › peer-review
  15 Citations (Scopus)

• Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

  Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., France, G. DI., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J. C., Lacombe, D., Van-Gils, J., Fergelot, P., Dubourg, C., Cormier-Daire, V., Rondeau, S., Lecoquierre, F., Saugier-Veber, P., Nicolas, G., Lesca, G., Chatron, N., Sanlaville, D., Vitobello, A., & 49 othersFaivre, L., Thauvin-Robinet, C., Laumonnier, F., Raynaud, M., Alders, M., Mannens, M., Henneman, P., Hennekam, R. C., Velasco, G., Francastel, C., Ulveling, D., Ciolfi, A., Pizzi, S., Tartaglia, M., Heide, S., Héron, D., Mignot, C., Keren, B., Whalen, S., Afenjar, A., Bienvenu, T., Campeau, P. M., Rousseau, J., Levy, M. A., Brick, L., Kozenko, M., Balci, T. B., Siu, V. M., Stuart, A., Kadour, M., Masters, J., Takano, K., Kleefstra, T., de Leeuw, N., Field, M., Shaw, M., Gecz, J., Ainsworth, P. J., Lin, H., Rodenhiser, D. I., Friez, M. J., Tedder, M., Lee, J. A., DuPont, B. R., Stevenson, R. E., Skinner, S. A., Schwartz, C. E., Genevieve, D. & Sadikovic, B., 3 Jun 2021, In: American Journal of Human Genetics. 108, 6, p. 1161-1163 3 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
  6 Citations (Scopus)

• Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

  Care4Rare Canada Consortium, Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., Forsythe, E., Kirmse, B., Ozmore, J., Spinelli, A. M., Calabrese, O., de Villemeur, T. B., Tabet, A. C., Levy, J., Guet, A., & 31 othersKossorotoff, M., Kamien, B., Morton, J., McCabe, A., Brischoux-Boucher, E., Raas-Rothschild, A., Pini, A., Carroll, R., Hartley, J. N., Boycott, K., Brudno, M., Bernier, F., van Karnebeek, C., Dyment, D., Kernohan, K., Innes, M., Lamont, R., Parboosingh, J., Marshall, D., Marshall, C., Mendoza, R., Dowling, J., Hayeems, R., Knoppers, B., Lehman, A., Mostafavi, S., Frosk, P., Slavotinek, A., Truxal, K., Jennifer, C. & Gecz, J., Sept 2021, In: European Journal of Human Genetics. 29, 9, p. 1405-1417 13 p.

  Research output: Contribution to journal › Article › peer-review
  3 Citations (Scopus)

• Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

  Dingemans, A. J. M., Stremmelaar, D. E., Vissers, L. E. L. M., Jansen, S., Nabais Sá, M. J., van Remortele, A., Jonis, N., Truijen, K., van de Ven, S., Ewals, J., Verbruggen, M., Koolen, D. A., Brunner, H. G., Eichler, E. E., Gecz, J. & de Vries, B. B. A., Apr 2021, In: American Journal of Medical Genetics, Part A. 185, 4, p. 1039-1046 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  13 Citations (Scopus)

• Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

  Pham, D. H., Pitman, M. R., Kumar, R., Jolly, L. A., Schulz, R., Gardner, A. E., de Nys, R., Heron, S. E., Corbett, M. A., Kothur, K., Gill, D., Rajagopalan, S., Kolc, K. L., Halliday, B. J., Robertson, S. P., Regan, B. M., Kirsch, H. E., Berkovic, S. F., Scheffer, I. E., Pitson, S. M., & 2 othersPetrovski, S. & Gecz, J., Aug 2021, In: Human mutation. 42, 8, p. 1030-1041 12 p.

  Research output: Contribution to journal › Article › peer-review

• Protocadherin 19 clustering epilepsy and neurosteroids: Opportunities for intervention

  de Nys, R., Kumar, R. & Gecz, J., Sept 2021, In: International Journal of Molecular Sciences. 22, 18, 9769.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  2 Citations (Scopus)

• Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

  CAUSES Study, SPARK Consortium, Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., & 32 othersZanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T. & Hughes, S., Dec 2021, In: Genome Medicine. 13, 1, 63.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  33 Citations (Scopus)

• Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR

  Liu, T., Wang, F. S., Cheah, F. S. H., Gu, Y., Shaw, M., Law, H. Y., Tay, S. K. H., Lee, C. G., Nelson, D. L., Gecz, J. & Chong, S. S., Aug 2021, In: Journal of Molecular Diagnostics. 23, 8, p. 941-951 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)

• Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome

  Ahmed, R., Sarwar, S., Hu, J., Cardin, V., Qiu, L. R., Zapata, G., Vandeleur, L., Yan, K., Lerch, J. P., Corbett, M. A., Gecz, J. & Picketts, D. J., 1 Apr 2021, In: Human molecular genetics. 30, 7, p. 575-594 20 p.

  Research output: Contribution to journal › Article › peer-review
  5 Citations (Scopus)

• Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

  van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H. & Gecz, J., Dec 2021, In: npj Genomic Medicine. 6, 1, 74.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  11 Citations (Scopus)
• 2020

  An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

  Pravata, V. M., Omelková, M., Stavridis, M. P., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gecz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. & van Aalten, D. M. F., 1 Jun 2020, In: European Journal of Human Genetics. 28, 6, p. 706-714 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  26 Citations (Scopus)

• A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

  Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R. & Gecz, J., 1 Dec 2020, In: Translational psychiatry. 10, 1, 127.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  20 Citations (Scopus)

• A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

  Garg, P., Jadhav, B., Rodriguez, O. L., Patel, N., Martin-Trujillo, A., Jain, M., Metsu, S., Olsen, H., Paten, B., Ritz, B., Kooy, R. F., Gecz, J. & Sharp, A. J., 1 Oct 2020, In: American Journal of Human Genetics. 107, 4, p. 654-669 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  29 Citations (Scopus)

• A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks

  Domingo, D., Nawaz, U., Corbett, M., Espinoza, J. L., Tatton-Brown, K., Coman, D., Wilkinson, M. F., Gecz, J. & Jolly, L. A., 1 Aug 2020, In: Human molecular genetics. 29, 15, p. 2568-2578 11 p.

  Research output: Contribution to journal › Article › peer-review
  8 Citations (Scopus)

• Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

  The SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., & 31 othersCarroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G. & Gecz, J., 1 Dec 2020, In: Nature Communications. 11, 1, 5398.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
  6 Citations (Scopus)

• Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response

  Gan, L., Sun, J., Yang, S., Zhang, X., Chen, W., Sun, Y., Wu, X., Cheng, C., Yuan, J., Li, A., Corbett, M. A., Dixon, M. P., Thomas, T., Voss, A. K., Gécz, J., Wang, G. Z., Bonni, A., Li, Q. & Huang, J., 17 Mar 2020, In: Cell Reports. 30, 11, p. 3717-3728.e6

  Research output: Contribution to journal › Article › peer-review

  Open Access
  6 Citations (Scopus)

• Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

  Thai, M. H. N., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., Vulto-van Silfhout, A. T., Pfundt, R., Dixon, J., McGaughran, J., Pérez-Jurado, L. A., Gécz, J. & Shoubridge, C., 1 Aug 2020, In: Human mutation. 41, 8, p. 1407-1424 18 p.

  Research output: Contribution to journal › Article › peer-review
  2 Citations (Scopus)

• Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

  Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., van Eyk, C. L., Webber, D. L., Palmer, L. J. & Berry, J. G., 1 Sept 2020, In: Developmental Medicine and Child Neurology. 62, 9, p. 1024-1030 7 p.

  Research output: Contribution to journal › Review article › peer-review
  14 Citations (Scopus)

• Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics

  Gecz, J. & Thomas, P. Q., Dec 2020, In: Current Opinion in Genetics and Development. 65, p. 169-175 7 p.

  Research output: Contribution to journal › Review article › peer-review
  20 Citations (Scopus)

• Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome

  McRae, H. M., Eccles, S., Whitehead, L., Alexander, W. S., Gécz, J., Thomas, T. & Voss, A. K., Nov 2020, In: Development (Cambridge). 147, 21, dev187021.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Citations (Scopus)

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Groupe DI France, Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J. C., Lacombe, D., Van-Gils, J., Fergelot, P., Dubourg, C., Cormier-Daire, V., Rondeau, S., Lecoquierre, F., Saugier-Veber, P., Nicolas, G., Lesca, G., Chatron, N., Sanlaville, D., Vitobello, A., & 31 othersFaivre, L., Thauvin-Robinet, C., Laumonnier, F., Raynaud, M., Alders, M., Mannens, M., Henneman, P., Hennekam, R. C., Velasco, G., Francastel, C., Ulveling, D., Ciolfi, A., Pizzi, S., Tartaglia, M., Heide, S., Héron, D., Mignot, C., Keren, B., Whalen, S., Afenjar, A., Bienvenu, T., Campeau, P. M., Rousseau, J., Levy, M. A., Brick, L., Kozenko, M., Balci, T. B., Siu, V. M., Stuart, A., Kadour, M. & Gecz, J., 5 Mar 2020, In: American Journal of Human Genetics. 106, 3, p. 356-370 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  121 Citations (Scopus)

• EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

  Shaw, M., Winczewska-Wiktor, A., Badura-Stronka, M., Koirala, S., Gardner, A., Kuszel, Ł., Kowal, P., Steinborn, B., Starczewska, M., Garry, S., Scheffer, I. E., Berkovic, S. F. & Gecz, J., Apr 2020, In: European Journal of Medical Genetics. 63, 4, 103799.

  Research output: Contribution to journal › Article › peer-review
  12 Citations (Scopus)