Sakkubai Naidu

Research output

Research output per year 1978 1987 1988 1990 1991 1995 1997 1998 1999 2001 2002 2003 2005 2012 2014 2016 2023

• 170 Article
• 16 Review article
• 9 Comment/debate
• 4 Chapter
• 7 More
  • 4 Letter
  • 2 Editorial
  • 1 Conference contribution

Research output per year

Research output per year

Search results

• 2023

  Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

  Mirchi, A., Guay, S. P., Tran, L. T., Wolf, N. I., Vanderver, A., Brais, B., Sylvain, M., Pohl, D., Rossignol, E., Saito, M., Moutton, S., González-Gutiérrez-Solana, L., Thiffault, I., Kruer, M. C., Moron, D. G., Kauffman, M., Goizet, C., Sztriha, L., Glamuzina, E., Melançon, S. B., & 6 othersNaidu, S., Retrouvey, J. M., Lacombe, S., Bernardino-Cuesta, B., De Bie, I. & Bernard, G., Oct 1 2023, In: Journal of medical genetics. 60, 10, p. 1026-1034 9 p.

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

  Open Access

  • Craniofacial Abnormalities 100%
  • Lip 33%
  • Mandibulofacial Dysostosis 26%
  • Anodontia 24%
  • RNA Polymerase III 23%

• Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

  Delanne, J., Lecat, M., Blackburn, P. R., Klee, E. W., Stumpel, C. T. R. M., Stegmann, S., Stevens, S. J. C., Nava, C., Heron, D., Keren, B., Mahida, S., Naidu, S., Babovic-Vuksanovic, D., Herkert, J. C., Torring, P. M., Kibæk, M., De Bie, I., Pfundt, R., Hendriks, Y. M. C., Ousager, L. B., & 15 othersBend, R., Warren, H., Skinner, S. A., Lyons, M. J., Pöe, C., Chevarin, M., Jouan, T., Garde, A., Thomas, Q., Kuentz, P., Tisserant, E., Duffourd, Y., Philippe, C., Faivre, L. & Thauvin-Robinet, C., Jan 2023, In: European Journal of Medical Genetics. 66, 1, 104670.

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

  • Leukemia 100%
  • Genes 49%
  • Intellectual Disability 34%
  • Megalencephaly 34%
  • Language Development Disorders 32%
• 2021

  Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

  Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., Van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., & 99 othersSébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., De Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özklnay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., Van De Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., Van Der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., Feb 1 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 2, p. E660-E674

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

  Open Access

  • Disorder 100%
  • Growth 58%
  • Prolactin 55%
  • Cortisol 50%
  • Thyroid 48%
  4 Scopus citations

• Hugo Wolfgang Moser

  Naidu, S. & Moser, A. B., Jan 1 2021, Child Neurology: Its Origins, Founders, Growth and Evolution. Elsevier, p. 821-823 3 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

  Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A., & 85 othersEsser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Góes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Grønborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-González, X. R., Dubbs, H., Vitobello, A., Anderson, M., Spadafore, D., Hunt, D., Møller, R. S. & Rubboli, G., Dec 15 2021, In: Neurology: Genetics. 7, 6, e613.

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

  Open Access

  • Brain Diseases 100%
  • Seizures 65%
  • Muscle Hypotonia 50%
  • Genetic Association Studies 44%
  • Electroencephalography 35%
• 2020

  Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (Genetics in Medicine, (2020), 10.1038/s41436-019-0747-z)

  The Undiagnosed Diseases Network, Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 822 1 p.

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

  Open Access

  • Neurodevelopmental Disorders 100%
  • Inborn Genetic Diseases 78%
  • Medicine 62%

• GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

  The Undiagnosed Diseases Network, May 1 2020, In: Genetics in Medicine. 22, 5, p. 878-888 11 p.

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

  Open Access

  • Neurodevelopmental Disorders 100%
  • Megalencephaly 80%
  • Muscle Hypotonia 68%
  • Immunoprecipitation 55%
  • Intellectual Disability 53%
  5 Scopus citations

• Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

  Fagiolini, M., Patrizi, A., LeBlanc, J., Jin, L. W., Maezawa, I., Sinnett, S., Gray, S. J., Molholm, S., Foxe, J. J., Johnston, M. V., Naidu, S., Blue, M., Hossain, A., Kadam, S., Zhao, X., Chang, Q., Zhou, Z. & Zoghbi, H., Oct 1 2020, In: Neuroscience. 445, p. 190-206 17 p.

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

  Open Access

  • Methyl-CpG-Binding Protein 2 100%
  • Intellectual Disability 62%
  • Rett Syndrome 29%
  • Neurodevelopmental Disorders 25%
  • Autistic Disorder 21%
  2 Scopus citations

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S., & 65 othersMahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In: Nature communications. 11, 1, 595.

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

  Open Access

  • Uridine Diphosphate Glucose Dehydrogenase 100%
  • dehydrogenases 79%
  • Developmental 67%
  • mutations 65%
  • glucose 64%
  10 Scopus citations

• Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

  Hijazi, H., Coelho, F. S., Gonzaga-Jauregui, C., Bernardini, L., Mar, S. S., Manning, M. A., Hanson-Kahn, A., Naidu, S. B., Srivastava, S., Lee, J. A., Jones, J. R., Friez, M. J., Alberico, T., Torres, B., Fang, P., Cheung, S. W., Song, X., Davis-Williams, A., Jornlin, C., Wight, P. A., & 9 othersPatyal, P., Taube, J., Poretti, A., Inoue, K., Zhang, F., Pehlivan, D., Carvalho, C. M. B., Hobson, G. M. & Lupski, J. R., Jan 1 2020, In: Human mutation. 41, 1, p. 150-168 19 p.

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

  Open Access

  • Genes 100%
  • Hereditary Spastic Paraplegia 73%
  • X Chromosome Inactivation 64%
  • Genomic Instability 54%
  • Genomics 50%
  2 Scopus citations
• 2019

  Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

  Kim, H. G., Rosenfeld, J. A., Scott, D. A., Bénédicte, G., Labonne, J. D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., Des Portes, V., Bruel, A. L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F., & 8 othersHummel, O., Islam, Z., Kolatkar, P. R., Layman, L. C., Ryu, D., Kong, I. K., Madan-Khetarpal, S. & Kim, C. H., Oct 22 2019, In: Molecular Autism. 10, 1, 35.

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

  Open Access

  • Muscle Hypotonia 100%
  • Autistic Disorder 82%
  • Intellectual Disability 78%
  • Epilepsy 69%
  • Haploinsufficiency 63%
  6 Scopus citations

• Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

  Undiagnosed Diseases Network, Jan 3 2019, In: American journal of human genetics. 104, 1, p. 164-178 15 p.

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

  Open Access

  • Intellectual Disability 100%
  • Nicolaides Baraitser syndrome 72%
  • Hypertrichosis 52%
  • Eyebrows 48%
  • Genes 42%
  14 Scopus citations

• Expansion of the clinical spectrum associated with AARS2-related disorders

  Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S. B., Aug 2019, In: American Journal of Medical Genetics, Part A. 179, 8, p. 1556-1564 9 p.

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

  • Leukoencephalopathies 100%
  • Cognitive Dysfunction 92%
  • Tremor 80%
  • Ataxia 79%
  • Alanine-tRNA Ligase 69%
  7 Scopus citations

• Mutation update for the SATB2 gene

  Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., Van Esch, H., & 28 othersCallewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., 2019, In: Human mutation. 40, 8, p. 1013-1029 17 p.

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

  Open Access

  • Nucleotides 100%
  • Neurodevelopmental Disorders 72%
  • Nonsense Codon 70%
  • Mutation 69%
  • Genetic Association Studies 65%
  12 Scopus citations
• 2018

  Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

  Wong, D. F., Blue, M. E., Brašić, J. R., Nandi, A., Valentine, H., Stansfield, K. H., Rousset, O., Bibat, G., Yablonski, M. E., Johnston, M. V., Gjedde, A. & Naidu, S. B., Sep 2018, In: Experimental Neurology. 307, p. 74-81 8 p.

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

  Open Access

  • Rett Syndrome 100%
  • Dopamine Plasma Membrane Transport Proteins 90%
  • Dopamine Receptors 83%
  • Positron-Emission Tomography 22%
  • Autoradiography 17%
  5 Scopus citations

• Clinical and functional characterization of the recurrent TUBA1A p.(ARG2HIS) mutation

  Gardner, J. F., Cushion, T. D., Niotakis, G., Olson, H. E., Grant, P. E., Scott, R. H., Stoodley, N., Cohen, J. S., Naidu, S., Attie-Bitach, T., Bonnières, M., Boutaud, L., Encha-Razavi, F., Palmer-Smith, S. M., Mugalaasi, H., Mullins, J. G. L., Pilz, D. T. & Fry, A. E., Aug 7 2018, In: Brain Sciences. 8, 8, 145.

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

  Open Access

  • Tubulin 100%
  • Mutation 69%
  • Microtubules 60%
  • Perisylvian syndrome 57%
  • Brain 45%
  6 Scopus citations

• Monogenic disorders that mimic the phenotype of Rett syndrome

  Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B., Jan 1 2018, In: Neurogenetics. 19, 1, p. 41-47 7 p.

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

  Open Access

  • Rett Syndrome 100%
  • Methyl-CpG-Binding Protein 2 69%
  • Phenotype 44%
  • Whole Exome Sequencing 32%
  • Atypical Rett Syndrome 17%
  23 Scopus citations

• Natural History of Vanishing White Matter

  Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenço, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M. & van der Knaap, M. S., Aug 2018, In: Annals of neurology. 84, 2, p. 274-288 15 p.

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

  Open Access

  • Natural History 100%
  • White Matter 90%
  • Age of Onset 46%
  • Leukoencephalopathies 22%
  • Sex Characteristics 15%
  18 Scopus citations

• Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

  Cheng, H., Dharmadhikari, A. V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A. F., Yoon, M., Stray-Pedersen, A., Posey, J. E., Crews, S. R., Eldomery, M. K., Akdemir, Z. C., Lewis, A. M., Sutton, V. R., Rosenfeld, J. A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., & 52 othersLongoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Küry, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A., Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M. J., de Vries, B. B. A., Pfundt, R., Kerr, B., Rojas, S. K., Boycott, K. M., Person, R., Willaert, R., Eichler, E. E., Kooy, R. F., Yang, Y., Wu, J. C., Lupski, J. R., Arnesen, T., Cooper, G. M., Chung, W. K., Gecz, J., Stessman, H. A. F., Meng, L. & Lyon, G. J., May 3 2018, In: American journal of human genetics. 102, 5, p. 985-994 10 p.

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

  Open Access

  • N-Terminal Acetyltransferase A 100%
  • Autism Spectrum Disorder 59%
  • Intellectual Disability 54%
  • Acetylation 24%
  • Genes 23%
  20 Scopus citations
• 2017

  Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

  Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M., & 46 othersBrunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Jan 31 2017, In: Nature genetics. 49, 2, p. 317 1 p.

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

  Open Access

• Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype

  Crosson, J., Srivastava, S., Bibat, G. M., Gupta, S., Kantipuly, A., Smith-Hicks, C., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J. & Naidu, S. R., Jun 2017, In: American Journal of Medical Genetics, Part A. 173, 6, p. 1495-1501 7 p.

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

  Open Access

  • Rett Syndrome 100%
  • Genotype 52%
  • Mutation 29%
  • Electrocardiography 25%
  • Sudden Death 10%
  8 Scopus citations

• Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

  CAUSES Study, Jul 6 2017, In: American journal of human genetics. 101, 1, p. 65-74 10 p.

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

  Open Access

  • Gain of Function Mutation 100%
  • Exome 90%
  • Potassium Channels 86%
  • Anura 81%
  • Missense Mutation 78%
  43 Scopus citations

• Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes

  De Kovel, C. G. F., Syrbe, S., Brilstra, E. H., Verbeek, N., Kerr, B., Dubbs, H., Bayat, A., Desai, S., Naidu, S., Srivastava, S., Cagaylan, H., Yis, U., Saunders, C., Rook, M., Plugge, S., Muhle, H., Afawi, Z., Klein, K. M., Jayaraman, V., Rajagopalan, R., & 15 othersGoldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L. K., Krok, B. L., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J. R., Van Den Boogaardt, M. J., Møller, R. S. & Koeleman, B. P. C., Oct 2017, In: JAMA Neurology. 74, 10, p. 1228-1236 9 p.

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

  • Neurodevelopmental Disorders 100%
  • Genotype 60%
  • Phenotype 51%
  • Ion Channels 16%
  • S 6 15%
  35 Scopus citations

• Randomized open-label trial of dextromethorphan in Rett syndrome

  Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In: Neurology. 89, 16, p. 1684-1690 7 p.

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

  Open Access

  • Dextromethorphan 100%
  • Rett Syndrome 95%
  • Seizures 18%
  • Checklist 15%
  • Electroencephalography 13%
  16 Scopus citations
• 2016

  BRAT1 mutations present with a spectrum of clinical severity

  Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S. B., Sep 1 2016, In: American Journal of Medical Genetics, Part A. 170, 9, p. 2265-2273 9 p.

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

  • Mutation 100%
  • Apraxias 59%
  • Microcephaly 54%
  • Seizures 51%
  • Intellectual Disability 42%
  17 Scopus citations

• De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

  Webster, E., Cho, M. T., Alexander, N., Desai, S., Naidu, S., Bekheirnia, M. R., Lewis, A., Retterer, K., Juusola, J. & Chung, W. K., Nov 1 2016, In: Cold Spring Harbor Molecular Case Studies. 2, 6, p. a001172

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

  Open Access

  • Pleckstrin Homology Domains 100%
  • Intellectual Disability 68%
  • Obesity 50%
  • Proteins 26%
  • Muscle Hypotonia 25%
  21 Scopus citations

• Functional outcomes in Rett syndrome

  Pidcock, F. S., Salorio, C., Bibat, G., Swain, J., Scheller, J., Shore, W. & Naidu, S. B., Jan 1 2016, In: Brain and Development. 38, 1, p. 76-81 6 p.

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

  Open Access

  • Rett Syndrome 100%
  • Mutation 41%
  • Self Care 29%
  • Upper Extremity 25%
  • Methyl-CpG-Binding Protein 2 13%
  5 Scopus citations

• Loss-of-function variants in HIVEP2 are a cause of intellectual disability

  Srivastava, S., Engels, H., Schanze, I., Cremer, K., Wieland, T., Menzel, M., Schubach, M., Biskup, S., Krei, M., Endele, S., Strom, T. M., Wieczorek, D., Zenker, M., Gupta, S., Cohen, J., Zink, A. M. & Naidu, S. B., Apr 1 2016, In: European Journal of Human Genetics. 24, 4, p. 556-561 6 p.

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

  Open Access

  • Intellectual Disability 100%
  • Whole Exome Sequencing 41%
  • somatostatin receptor 2 26%
  • Haploinsufficiency 22%
  • myc Genes 21%
  19 Scopus citations

• Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

  Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M., & 46 othersBrunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., Van Der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Oct 1 2016, In: Nature genetics. 48, 10, p. 1185-1192 8 p.

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

  Open Access

  • Cerebral Small Vessel Diseases 100%
  • Small Nucleolar RNA 98%
  • Leukoencephalopathies 90%
  • Ribosomes 71%
  • Cysts 59%
  61 Scopus citations

• Update on leukodystrophies: A historical perspective and adapted definition

  Kevelam, S. H., Steenweg, M. E., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N. I. & Van Der Knaap, M. S., Dec 1 2016, In: Neuropediatrics. 47, 6, p. 349-354 6 p.

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

  • Myelin Sheath 100%
  • Housekeeping 64%
  • Genetic Linkage 63%
  • Whole Exome Sequencing 57%
  • Protein Biosynthesis 52%
  47 Scopus citations
• 2015

  CSF and blood levels of GFAP in Alexander disease

  Jany, P. L., Agosta, G. E., Benko, W. S., Eickhoff, J. C., Keller, S. R., Köehler, W., Koeller, D., Mar, S., Naidu, S., Ness, J. M., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., 2015, In: eNeuro. 2, 5, e0080-15.2015.

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

  Open Access

  • Alexander Disease 100%
  • Astrocytes 54%
  • Intermediate Filament Proteins 40%
  • Glial Fibrillary Acidic Protein 33%
  • Body Fluids 32%
  21 Scopus citations

• Heightened delta power during slow-wave- sleep in patients with rett syndrome associated with poor sleep efficiency

  Ammanuel, S., Chan, W. C., Adler, D. A., Lakshamanan, B. M., Gupta, S. S., Ewen, J. B., Johnston, M. V., Marcus, C. L., Naidu, S. & Kadam, S. D., Oct 7 2015, In: PloS one. 10, 10, e0138113.

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

  Open Access

  • Rett Syndrome 100%
  • Slow-Wave Sleep 89%
  • sleep 81%
  • Psychological Power 69%
  • Wave 68%
  12 Scopus citations

• Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

  Vernon, H. J., Mcclellan, R., Batista, D. A. & Naidu, S., May 1 2015, In: American Journal of Medical Genetics, Part A. 167, 5, p. 1147-1151 5 p.

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

  • Mitochondrial Diseases 100%
  • Siblings 73%
  • Phenylalanine-tRNA Ligase 47%
  • Mutation 44%
  • Exons 44%
  22 Scopus citations

• Recent advances in understanding synaptic abnormalities in Rett syndrome

  Johnston, M., Blue, M. E. & Naidu, S., 2015, In: F1000Research. 4, 1490.

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

  Open Access

  • Rett Syndrome 100%
  • Neuronal Plasticity 70%
  • Synapses 67%
  • Plastic Property 64%
  • Disorder 63%
  11 Scopus citations
• 2014

  Abnormalities of the DNA methylation mark and its machinery: An emerging cause of neurologic dysfunction

  Weissman, J., Naidu, S. & Bjornsson, H. T., Jul 1 2014, In: Seminars in neurology. 34, 3, p. 249-257 9 p.

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

  Open Access

  • Neurologic Manifestations 100%
  • DNA Methylation 97%
  • Epigenomics 86%
  • Methyltransferases 73%
  • Topoisomerase Inhibitors 50%
  16 Scopus citations

• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

  Wolf, N. I., Vanderver, A., Van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Strømme, P., De Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., Van Der Knaap, M. S., & 1 othersBernard, G., Nov 1 2014, In: Neurology. 83, 21, p. 1898-1905 8 p.

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

  • Mutation 100%
  • Myoclonic Cerebellar Dyssynergia 51%
  • Anodontia 37%
  • Tooth 36%
  • Ventral Thalamic Nuclei 33%
  91 Scopus citations

• Clinical whole exome sequencing in child neurology practice

  Srivastava, S., Cohen, J. S., Vernon, H., Barañano, K., McClellan, R., Jamal, L., Naidu, S. B. & Fatemi, A., Oct 1 2014, In: Annals of neurology. 76, 4, p. 473-483 11 p.

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

  • Whole Exome Sequencing 100%
  • Neurology 89%
  • Child 36%
  • Neurodevelopmental Disorders 28%
  • Pediatrics 15%
  155 Scopus citations

• De novo KCNB1 mutations in epileptic encephalopathy

  Torkamani, A., Bersell, K., Jorge, B. S., Bjork, R. L., Friedman, J. R., Bloss, C. S., Cohen, J., Gupta, S., Naidu, S., Vanoye, C. G., George, A. L. & Kearney, J. A., Oct 1 2014, In: Annals of neurology. 76, 4, p. 529-540 12 p.

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

  Open Access

  • Brain Diseases 100%
  • Whole Exome Sequencing 62%
  • Mutation 58%
  • Missense Mutation 36%
  • Shab Potassium Channels 32%
  73 Scopus citations

• Hypomyelination with atrophy of the basal ganglia and cerebellum: Further delineation of the phenotype and genotype-phenotype correlation

  Hamilton, E. M., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguž, A. B., Blumkin, L., Van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, T. E. M., Wolf, N. I. & Van Der Knaap, M. S., Jul 2014, In: Brain. 137, 7, p. 1921-1930 10 p.

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

  Open Access

  • Genetic Association Studies 100%
  • Basal Ganglia 95%
  • Cerebellum 86%
  • Atrophy 81%
  • Phenotype 56%
  60 Scopus citations

• Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

  Ferreira, C., Poretti, A., Cohen, J., Hamosh, A. & Naidu, S., Jul 2014, In: American Journal of Medical Genetics, Part A. 164, 7, p. 1802-1807 6 p.

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

  Open Access

  • Basal Ganglia 100%
  • Cerebellum 90%
  • Neuroimaging 88%
  • Atrophy 85%
  • Phenotype 59%
  20 Scopus citations

• Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice

  Johnston, M. V., Ammanuel, S., O'Driscoll, C., Wozniak, A. W., Naidu, S. & Kadam, S. D., Jun 27 2014, In: Frontiers in Systems Neuroscience. 8, JUNE, 118.

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

  Open Access

  • Mouse Mecp2 protein 100%
  • Biosensing Techniques 63%
  • Circadian Rhythm 54%
  • Glutamic Acid 45%
  • Electroencephalography 43%
  22 Scopus citations
• 2013

  Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

  Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., Goizet, C., Naidu, S., Vanderver, A. & Bernard, G., 2013, In: Journal of medical genetics. 50, 3, p. 194-197 4 p.

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

  • Tooth Abnormalities 100%
  • Hypogonadism 79%
  • Mutation 37%
  • Exons 10%
  • Frameshift Mutation 7%
  58 Scopus citations

• Rett syndrome and epilepsy: An update for child neurologists

  Dolce, A., Ben-Zeev, B., Naidu, S. & Kossoff, E. H., May 1 2013, In: Pediatric Neurology. 48, 5, p. 337-345 9 p.

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

  • Rett Syndrome 100%
  • Neurologists 81%
  • Epilepsy 62%
  • Seizures 38%
  • Ketogenic Diet 34%
  54 Scopus citations
• 2012

  Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

  Jangouk, P., Zackowski, K. M., Naidu, S. & Raymond, G. V., Feb 2012, In: Molecular genetics and metabolism. 105, 2, p. 180-185 6 p.

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

  • Adrenoleukodystrophy 100%
  • Long-Chain Fatty Acid 84%
  • Heterozygote 73%
  • Neuroimaging 62%
  • Mutation 58%
  32 Scopus citations

• Advances in the diagnosis of leukoencephalopathies

  Naidu, S. & Lin, D. D. M., Jul 2012, In: Expert Opinion on Medical Diagnostics. 6, 4, p. 259-273 15 p.

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

  • Leukoencephalopathies 100%
  • Disorder 64%
  • Imaging techniques 57%
  • Magnetic resonance spectroscopy 42%
  • Clinical laboratories 38%
  1 Scopus citations

• Archetypal and new families with Alexander disease and novel mutations in GFAP

  Messing, A., Li, R., Naidu, S., Taylor, J. P., Silverman, L., Flint, D., Van Der Knaap, M. S. & Brenner, M., Feb 2012, In: Archives of neurology. 69, 2, p. 208-214 7 p.

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

  Open Access

  • Alexander Disease 100%
  • Mutation 60%
  • Onset 20%
  • Siblings 18%
  • Mosaicism 18%
  18 Scopus citations

• Auditory evoked potentials in rett syndrome: Peripheral and central auditory function

  Pillion, J. P. & Naidu, S., May 2012, Pediatric Neurology. Nova Science Publishers, Inc., p. 131-144 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Rett Syndrome 100%
  • Reaction Time 15%
  • Methyl-CpG-Binding Protein 2 12%
  • Evoked Potentials 7%
  • Language 6%

• Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome

  Brašić, J. R., Bibat, G., Kumar, A., Zhou, Y., Hilton, J., Yablonski, M. E., Dogan, A. S., Guevara, M. R., Stephane, M., Johnston, M., Wong, D. F. & Naidu, S., Jun 2012, In: Synapse. 66, 6, p. 471-482 12 p.

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

  Open Access

  • Vesicular Acetylcholine Transport Proteins 100%
  • Rett Syndrome 86%
  • Activities of Daily Living 39%
  • Binding Sites 24%
  • Single-Photon Emission-Computed Tomography 16%
  13 Scopus citations

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D., & 44 othersChong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J., Mar 2012, In: Nature genetics. 44, 3, p. 338-342 5 p.

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

  Open Access

  • Telomere Shortening 100%
  • Telomere 83%
  • Dyskeratosis Congenita 59%
  • Maintenance 53%
  • Arabidopsis 49%
  159 Scopus citations

• Social impairments in Rett syndrome: Characteristics and relationship with clinical severity

  Kaufmann, W. E., Tierney, E., Rohde, C. A., Suarez-Pedraza, M. C., Clarke, M. A., Salorio, C. F., Bibat, G., Bukelis, I., Naram, D., Lanham, D. C. & Naidu, S., Mar 2012, In: Journal of Intellectual Disability Research. 56, 3, p. 233-247 15 p.

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

  Open Access

  • Rett Syndrome 100%
  • Impairment 75%
  • Syndrome 64%
  • Mutation 19%
  • Phenotype 17%
  67 Scopus citations