Deciphering Genetic Disease in the Genomic Era: The Model of GnRH Deficiency

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

TAC3/TACR3Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

(2010) Elena Gianetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

(2009) Suzy D. C. Bianco et al.   Nature Reviews Endocrinology

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Plasma lipoproteins: genetic influences and clinical implications

(2009) Robert A. Hegele   NATURE REVIEWS GENETICS

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

(2009) Jérôme Bouligand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomewide Association Studies — Illuminating Biologic Pathways

(2009) Joel N. Hirschhorn   NEW ENGLAND JOURNAL OF MEDICINE

Common Genetic Variation and Human Traits

(2009) David B. Goldstein   NEW ENGLAND JOURNAL OF MEDICINE

GNRH1mutations in patients with idiopathic hypogonadotropic hypogonadism

(2009) Yee-Ming Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

(2008) A Kemal Topaloglu et al.   NATURE GENETICS

Cohort studies and the genetics of complex disease

(2008) Teri A Manolio   NATURE GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE