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Yu Sun

Leiden University Medical Center

13

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Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

2016
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

2014 Nature Genetics
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

2013 Human Mutation
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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

2013 The Lancet
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IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

2013
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Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

2013
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Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

2010 American Journal of Human Genetics
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