SakkubaiMdNaiduMD

PubMed

• 2 citations
  Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in,and.
  Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien...> ;Journal of Medical Genetics. 2023 Oct 1
• 4 citations
  Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
  Julian Delanne, Magaly Lecat, Patrick R Blackburn, Eric W Klee, Constance T R M Stumpel, Sander Stegmann, Servi J C Stevens, Caroline Nava, Delphine Heron, Boris Keren...> ;European Journal of Medical Genetics. 2023 Jan 1
• 22 citations
  Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
  Félixe Pelletier, Stefanie Perrier, Ferdy K. Cayami, Amytice Mirchi, Stephan Saikali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M. L...> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Jan 23
• 8 citations
  Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disor...
  Michela Fagiolini, Annarita Patrizi, Jocelyn LeBlanc, Lee-Way Jin, Izumi Maezawa, Sarah E. Sinnett, Steven J. Gray, Sophie Molholm, John J. Foxe, Michael V. Johnston, ...> ;Neuroscience. 2020 Oct 1
• 10 citations
  GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 May 1
• 2 citations
  Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 Apr 1
• 28 citations
  Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
  Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong Teck Tan, Michelle Eio, Gunaseelan Narayana...> ;Nature Communications. 2020 Jan 30
• 14 citations
  Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
  Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga-Jauregui, Laura Bernardini, Soe Mar, Melanie A. Manning, Andrea Hanson-Kahn, Sakku Bai Naidu, Siddharth Srivastava, J...> ;Human Mutation. 2020 Jan 1
• 25 citations
  Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
  Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D J Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutie...> ;Molecular Autism. 2019 Oct 22
• 20 citations
  Expansion of the clinical spectrum associated with AARS2‐related disorders
  Siddharth Srivastava, Ankur Butala, Sonal Mahida, John E. Richter, Weiyi Mu, Andrea Poretti, Hilary J. Vernon, Jay A. VanGerpen, Paldeep S. Atwal, Erik H. Middlebrooks...> ;American Journal of Medical Genetics. Part A. 2019 Aug 1
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
• 13 citations
  Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?
  Dean F. Wong, Mary E. Blue, James Robert Brašić, Ayon Nandi, Heather Valentine, Kirstie H. Stansfield, Olivier Rousset, Genila Bibat, Mary E. Yablonski, Michael V. Joh...> ;Experimental Neurology. 2018 Sep 1
• 16 citations
  Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
  Jennifer Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Grant, Richard H Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attié-Bitach,...> ;Brain Sciences. 2018 Aug 7
• 54 citations
  Natural history of vanishing white matter
  Eline M. Hamilton, Hannemieke D.W. van der Lei, Gerre Vermeulen, Jan A M Gerver, Charles Marques Lourenço, Sakkubai Naidu, Hanna Mierzewska, Reinoud J. B. J. Gemke, He...> ;Annals of Neurology. 2018 Aug 1
• 51 citations
  Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
  Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E. Posey...> ;American Journal of Human Genetics. 2018 May 3
• 30 citations
  Monogenic disorders that mimic the phenotype of Rett syndrome.
  Siddharth Srivastava, Sonal Desai, Julie S. Cohen, Constance Smith-Hicks, Kristin W. Barañano, Ali Fatemi, Sakku Bai Naidu> ;Neurogenetics. 2018 Jan 10
• 26 citations
  Randomized open-label trial of dextromethorphan in Rett syndrome
  Constance Smith-Hicks, Siddharth Gupta, Joshua B. Ewen, Manisha Hong, Lisa E. Kratz, Richard I. Kelley, Elaine Tierney, Rebecca Vaurio, Genila Bibat, Abanti Sanyal, Ga...> ;Neurology. 2017 Oct 17
• 58 citations
  Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
  Carolien G.F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, H...> ;JAMA Neurology. 2017 Oct 1
• 69 citations
  Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
  Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard E. Person, Jill Mwenifumbo, Ramona Salvarinova, Shel...> ;American Journal of Human Genetics. 2017 Jul 6
• 19 citations
  Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype
  Jane E. Crosson, Siddharth Srivastava, Genila Bibat, Siddharth Gupta, Aditi Kantipuly, Constance Smith-Hicks, Scott M. Myers, Abanti Sanyal, Gayane Yenokyan, Joel I. B...> ;American Journal of Medical Genetics. Part A. 2017 Jun 1
• 1 citations
  Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
  Emma M. Jenkinson, Mathieu P Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, Christopher J. Kershaw, Jill E. Urquhart, Simo...> ;Nature Genetics. 2017 Jan 31
• 4 citations
  Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
  Siddharth Srivastava, Sakkubai Naidu> ;Pediatric Neurology Briefs. 2016 Dec 1
• 36 citations
  De novo PHIP predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features
  E.M. Webster, Megan T. Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea M. Lewis, Kyle Retterer, Jane Juusola, Wendy K. Chung> ;Cold Spring Harbor Molecular Case Studies. 2016 Nov 1
• 93 citations
  Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
  Emma M. Jenkinson, Mathieu P Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, Christopher J. Kershaw, Jill E. Urquhart, Simo...> ;Nature Genetics. 2016 Oct 1
• 71 citations
  Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
  Sietske H. Kevelam, Marjan E. Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I. Wolf, Marjo S....> ;Neuropediatrics. 2016 Aug 26
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