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PubMed

• 4 citations
  Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec.
  Laura Retson, Nishant Tiwari, Jennifer Vaughn, Saunder Bernes, P David Adelson, Keith Mansfield, Silvana Libertini, Brent Kuzmiski, Iulian Alecu, Richard Gabriel, Ross...> ;Molecular Therapy. 2023 Oct 4
• 11 citations
  GARS- related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
  Rebecca Markovitz, Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goe...> ;American Journal of Medical Genetics. Part A. 2020 Mar 17
• 33 citations
  A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy
  Mohammad A Mousa, David J Aria, Carrie M Schaefer, Robin D Kaye, Todd A Abruzzo, Saunder Bernes, Scott D Willard, Monique Riemann, Richard B. Towbin> ;Pediatric Radiology. 2018 Jul 18
• 25 citations
  Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
  Julia Wang, Emily Kim, Honzheng Dai, Vikki Stefans, Hannes Vogel, Fatma Al Jasmi, Samantha A. Schrier Vergano, Diana Castro, Saunder Bernes, Vikas Bhambhani, Catherine...> ;Molecular Genetics and Metabolism. 2018 Jun 1
• 45 citations
  Identification of novel candidate disease genes from de novo exonic copy number variants
  Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren De...> ;Genome Medicine. 2017 Sep 21
• 11 citations
  Outcomes of thoracoscopic thymectomy in patients with juvenile myasthenia gravis
  Awais Ashfaq, Saunder Bernes, Erica M. Weidler, David M. Notrica> ;Journal of Pediatric Surgery. 2016 Jul 1
• 53 citations
  Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
  Neil Kulkarni, Sha Tang, Ratan D. Bhardwaj, Saunder Bernes, Theresa A. Grebe> ;Journal of Child Neurology. 2016 Feb 1
• 87 citations
  ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
  Dong Hui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saund...> ;Neurology. 2015 Dec 8
• 35 citations
  Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
  Jesse M. Hunter, Mary Ellen Ahearn, Chris Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David Craig, John D. Carpt...> ;Molecular Genetics & Genomic Medicine. 2015 Jul 1
• 18 citations
  A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
  Isabelle Schrauwen, Szabolcs Szelinger, Ashley L. Siniard, Jason J. Corneveaux, Ahmet Kurdoglu, Ryan Richholt, Matt De Both, Ivana Malenica, Shanker Swaminathan, Sampa...> ;Investigative Ophthalmology & Visual Science. 2015 Jun 1
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
  Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M...> ;Eur J Hum Genet. 2013 Oct
• 59 citations
  Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
  Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissi...> ;Human Mutation. 2010 May 1
• 30 citations
  Expanding CEP290 mutational spectrum in ciliopathies.
  Lorena Travaglini, Francesco Brancati, Tania Attié-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, ...> ;American Journal of Medical Genetics. Part A. 2009 Oct 1
• 161 citations
  Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
  Shay Ben-Shachar, Brendan C. Lanpher, Jennifer R. German, M. Qasaymeh, Lorraine Potocki, Sandesh C.S. Nagamani, Luis M. Franco, Amy D. Malphrus, G. W. Bottenfield, J E...> ;Journal of Medical Genetics. 2009 Jun 1
• Evolution of neonatal seizures.
  Bernes SM, Kaplan AM> ;Pediatr. Clin. North Am.. 1994-10-01
• Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease.
  Kaler SG, Westman JA, Bernes SM, Elsayed AM, Bowe CM, Freeman KL, Wu CD, Wallach MT> ;J. Pediatr.. 1993-01-01
• Skeletal muscle in preterm infants with congenital myotonic dystrophy. Morphologic and histochemical study.
  Sahgal, V., Bernes, S., Sahgal, S., Lischwey, C., Subramani, V.> ;J Neurol Sci. 1983 Apr
• Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.
  Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P., Fischel-Ghodsian, N.> ;J Pediatr. 1993 Oct
• Persistent CNS dysfunction in a boy with CMT1X.
  Siskind, C., Feely, S. M., Bernes, S., Shy, M. E., Garbern, J. Y.> ;J Neurol Sci. 2009 Apr 15
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
  Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S. H., Pursley, ...> ;Nat Genet. 2008 Dec 01
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