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

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome

(2013) K Jarzabek et al.   Advances in Medical Sciences

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

(2012) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions

(2012) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

InSilico DB genomic datasets hub: an efficient starting point for analyzing genome-wide studies in GenePattern, Integrative Genomics Viewer, and R/Bioconductor

(2012) Alain Coletta et al.   GENOME BIOLOGY

Plasticity in Interactions of Fibroblast Growth Factor 1 (FGF1) N Terminus with FGF Receptors Underlies Promiscuity of FGF1

(2011) Andrew Beenken et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

FGFs: neurodevelopment’s Jack-of-all-trades – how do they do it?

(2011) Jean M. Hébert   Frontiers in Neuroscience

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

(2010) Amelia A. Keaton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion ofSHH,TGIF,SIX3,GLI2,TP73L, andDHCR7as candidate genes

(2009) Roseli Maria Zechi-Ceide et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

(2009) Catheline Vilain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Selectivity of Receptor Tyrosine Kinase Signaling Is Controlled by a Secondary SH2 Domain Binding Site

(2009) Jae Hyun Bae et al.   CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Precise Sequence of FGF Receptor Autophosphorylation Is Kinetically Driven and Is Disrupted by Oncogenic Mutations

(2009) E. D. Lew et al.   Science Signaling

Fibroblast Growth Factor 8 Signaling through Fibroblast Growth Factor Receptor 1 Is Required for the Emergence of Gonadotropin-Releasing Hormone Neurons

(2008) Wilson C. J. Chung et al.   ENDOCRINOLOGY

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

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