The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

(2016) James T. Bennett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians

(2016) Sandhya Nair et al.   CLINICAL ENDOCRINOLOGY

Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

(2016) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

(2016) Christèle Dubourg et al.   HUMAN MUTATION

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2016) Samuel D. Quaynor et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The Fibroblast Growth Factor signaling pathway

(2015) David M. Ornitz et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2014) Taneli Raivio et al.   ENDOCRINE REVIEWS

Genetics of congenital hypogonadotropic hypogonadism in Denmark

(2014) Johanna Tommiska et al.   European Journal of Medical Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism

(2013) Brent S. Abel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Craniosynostosis

(2011) David Johnson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Expanding the Phenotype and Genotype of Female GnRH Deficiency

(2011) Natalie D. Shaw et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Epidemiology of holoprosencephaly: Prevalence and risk factors

(2010) Iêda M. Orioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA