Koolen, David A.

Top Publications

Top Publications Authored or Co-Authored by "Koolen, David A."

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

  The Lancet Diabetes and Endocrinology, Volume 8, No. 7, Year 2020, Citations 88
• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

  American Journal of Medical Genetics, Part A, Volume 191, No. 5, Year 2023, Citations 38