Cold Spring Harbor Molecular Case Studies

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Top Publications

• Toward transcriptomics as a primary tool for rare disease investigation

  (2022)
  52 Citations

• Intra- and intertumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencing

  Weitao Lin;Weitao Lin;Aaron B Beasley;Nima Mesbah Ardakani;Nima Mesbah Ardakani;Elena Denisenko

  (2021)
  30 Citations

• Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

  (2022)
  29 Citations

• A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

  Lauren C Briere;Melissa A Walker;Frances A High;Cynthia Cooper

  (2021)
  28 Citations

• A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

  (2022)
  25 Citations

• Case Report: Five-Year Experience of AKT Inhibition with Miransertib (MK-7075) in an Individual with Proteus Syndrome.

  Christopher A Ours;Julie C Sapp;Mia B Hodges;Allison J de Moya

  (2021)
  24 Citations

• Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

  (2021)
  16 Citations

• Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1.

  Madison Garrity;Haluk Kavus;Marta Rojas-Vasquez;Irene Valenzuela

  (2021)
  16 Citations

• Expanding the clinical phenotype of FGFR1 internal tandem duplication

  (2022)
  14 Citations

• 2022: a pivotal year for diagnosis and treatment of rare genetic diseases

  (2022)
  14 Citations