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

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

(2016) C. Mouden et al.   CLINICAL GENETICS

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

(2016) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

Exploring genomic alteration in pediatric cancer using ProteinPaint

(2016) Xin Zhou et al.   NATURE GENETICS

ProNodal acts via FGFR3 to govern duration of Shh expression in the prechordal mesoderm

(2015) Pamela S. Ellis et al.   DEVELOPMENT

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

(2015) Charlotte Mouden et al.   PLoS One

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

(2014) Radhika Dhamija et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

(2014) Carine Villanueva et al.   GENETICS IN MEDICINE

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

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

(2013) O. M'hamdi et al.   CLINICAL GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

(2013) Chayanin Chokdeemboon et al.   JOURNAL OF CRANIOFACIAL SURGERY

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

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

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

(2013) Audrey Vizeneux et al.   PLoS One

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

(2012) S. Mercier et al.   Disease Models & Mechanisms

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

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

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

(2011) Gyu-Un Bae et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

(2011) Daniel E. Pineda-Alvarez et al.   HUMAN GENETICS

NOTCH, a new signaling pathway implicated in holoprosencephaly

(2011) V. Dupe et al.   HUMAN MOLECULAR GENETICS

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

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

(2011) S. Mercier et al.   JOURNAL OF MEDICAL GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

(2010) Daniel E. Pineda-Alvarez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

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

Holoprosencephaly: An update on cytogenetic abnormalities

(2010) Claude Bendavid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Non-genetic risk factors for holoprosencephaly

(2010) Candice Y. Johnson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The molecular genetics of holoprosencephaly

(2010) Erich Roessler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Neuropathology of holoprosencephaly

(2010) Pascale Marcorelles et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies

(2010) J.S. Hahn et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

(2010) ISABELLE BAILLEUL-FORESTIER et al.   International Journal of Paediatric Dentistry

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Identifying novel constrained elements by exploiting biased substitution patterns

(2009) Manuel Garber et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

(2009) F Lacbawan et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

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

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

The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

(2008) J.-P. Hardelin et al.   Sexual Development