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Cassandra Buck

Harvard University

16

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294

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Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

2018 The Cerebellum
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A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

2015 The Journal of Clinical Endocrinology and Metabolism
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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

2015 The Journal of Clinical Endocrinology and Metabolism
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

2014 Proceedings of the National Academy of Sciences of the United States of America
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

2014
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Figure 1. [Genes associated with isolated GnRH deficiency (IGD) by sense of smell and mode of inheritance].

2013
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Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

2013 The Journal of Clinical Endocrinology and Metabolism
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Table 1. [Tanner Staging].

2013
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Figure 2. [Testing algorithm to establish the diagnosis of isolated GnRH deficiency (IGD)].

2013
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Figure 3. [Suggested guidelines for prioritization of...].

2013
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