Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

Journal:

American Journal of Human Genetics

Published:

2025-06-18

DOI:

10.1016/j.ajhg.2025.05.013

Affiliations:

13

Authors:

20

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Institutions	Authors	Share
University of Otago, New Zealand	5.000000	0.25
Hospital Kuala Lumpur (HKL), Malaysia	2.000000	0.10
MRC Human Genetics Unit (HGU), The University of Edinburgh, United Kingdom (UK)	2.000000	0.10
Yokohama City University (YCU), Japan	2.000000	0.10
The University of Osaka (UOsaka), Japan	2.000000	0.10
Genetic Health Services New Zealand, New Zealand	1.000000	0.05
Health New Zealand, New Zealand	1.000000	0.05
Erasme Hospital, Belgium	1.000000	0.05
Institute of Pathology and Genetics (IPG), Belgium	1.000000	0.05
Hospital Pulau Pinang, Malaysia	1.000000	0.05
National Institute of Global Health and Medicine, Japan	1.000000	0.05
Great Ormond Street Hospital for Children NHS Trust, United Kingdom (UK)	1.000000	0.05

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