M. Leferink

Most-cited papers

1. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

   W. Leen, J. Klepper, M. Verbeek, M. Leferink +49 more

   2010Brain : a journal of neurology421 citations Open access

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2. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

   J. Klepper, H. Scheffer, B. Leiendecker, E. Gertsen +6 more

   2005Neuropediatrics141 citations

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3. Autosomal recessive inheritance of GLUT1 deficiency syndrome.

   J. Klepper, H. Scheffer, M. Elsaid, E. Kamsteeg +2 more

   2009Neuropediatrics68 citations

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4. Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test

   M. Leferink, D. P. W. Wong, Shiwei Cai, Minli Yeo +6 more

   2019Scientific Reports12 citations Open access

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5. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

   M. Coenen, A. Tieleman, M. Schijvenaars, M. Leferink +3 more

   2011European Journal of Human Genetics9 citations Open access

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6. Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles

   Hilde L. Swinkels, M. Leferink, M. Pennings, B. van der Sanden +3 more

   2025European Journal of Human Genetics4 citations Open access

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7. Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses

   S. P. Smeekens, M. Leferink, H. Yntema, E. Kamsteeg

   2024Prenatal Diagnosis4 citations Open access

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