A role forTENM1mutations in congenital general anosmia

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

(2016) Gil Stelzer et al.   BMC GENOMICS

The Genotype-Tissue Expression (GTEx) Project

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The Genotype-Tissue Expression (GTEx) Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

The first mutation inCNGA2in two brothers with anosmia

(2014) H.G. Karstensen et al.   CLINICAL GENETICS

Synaptic organization of the Drosophila antennal lobe and its regulation by the Teneurins

(2014) Timothy J Mosca et al.   eLife

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

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

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Learning from a paradox: recent insights into Fanconi anaemia through studying mouse models

(2012) S. T. Bakker et al.   Disease Models & Mechanisms

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency

(2012) Antoine Moya-Plana et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Homozygous null mutation in ODZ3 causes microphthalmia in humans

(2012) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Teneurins instruct synaptic partner matching in an olfactory map

(2012) Weizhe Hong et al.   NATURE

Trans-synaptic Teneurin signalling in neuromuscular synapse organization and target choice

(2012) Timothy J. Mosca et al.   NATURE

Learning about the Functions of the Olfactory System from People without a Sense of Smell

(2012) Ilona Croy et al.   PLoS One

Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice

(2012) A. Cooper et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Isolated and syndromic forms of congenital anosmia

(2011) HG Karstensen et al.   CLINICAL GENETICS

Drosophila Ten-m and Filamin Affect Motor Neuron Growth Cone Guidance

(2011) Lihua Zheng et al.   PLoS One

Clinical genetics of Kallmann syndrome

(2010) C. Dodé et al.   ANNALES D ENDOCRINOLOGIE

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

A triple urocortin knockout mouse model reveals an essential role for urocortins in stress recovery

(2010) A. Neufeld-Cohen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

CHD7mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

(2009) Jorieke EH Bergman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two novel SCN9A mutations causing insensitivity to pain

(2009) K. B. Nilsen et al.   PAIN

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

Teneurin-1 is expressed in interconnected regions of the developing brain and is processed in vivo

(2008) Daniela Kenzelmann et al.   BMC DEVELOPMENTAL BIOLOGY

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

(2008) Pia E. Vuorela et al.   CLINICAL DYSMORPHOLOGY

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