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Norbert F. Ajeawung

Centre Hospitalier Universitaire Sainte-Justine

9

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant (Genetics in Medicine, (2020), 10.1038/s41436-020-00950-9)

2020 Genetics in Medicine
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

2019 American Journal of Human Genetics
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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

2019 American Journal of Human Genetics
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

2018
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

2017 Journal of Human Genetics
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

2017 American Journal of Human Genetics
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