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Rosie Sullivan
Rosie Sullivan
University of Otago
Genetics
Biology
Gene
Meier-Gorlin syndrome
DNA sequencing
2
Papers
14
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
2021
European Journal of Human Genetics
Karen M Knapp
Danielle E. Jenkins
Rosie Sullivan
Frederike L. Harms
Leonie von Elsner
Charlotte W. Ockeloen
Sonja A. de Munnik
Ernie M.H.F. Bongers
Jennie E. Murray
Nicholas Pachter
Jonas Denecke
Kerstin Kutsche
Louise S. Bicknell
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Citations (2)
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
2019
Journal of Medical Genetics
Karen M Knapp
Rosie Sullivan
Jennie E. Murray
Gregory Gimenez
Pamela Arn
Precilla D'Souza
Alper Gezdirici
William G. Wilson
Andrew P. Jackson
Carlos R. Ferreira
Louise S. Bicknell
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Citations (12)
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