MariaT.SacotoMDFAAP

PubMed

• 1 citations
  Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
  Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Mill...> ;Genetics in Medicine. 2021 Dec 1
• 9 citations
  Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
  Elodie Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex M. Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia...> ;American Journal of Human Genetics. 2021 Oct 7
• 10 citations
  Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
  Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie H...> ;American Journal of Medical Genetics. Part A. 2021 Aug 26
• 8 citations
  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
  Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella M Pierpont, Mat...> ;Genetics in Medicine. 2021 May 26
• 16 citations
  Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Science Advances. 2021 May 1
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