Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

(2015) Jameela M.A. Shinwari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene

(2013) Flavio Faletra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mammalian HECT ubiquitin-protein ligases: Biological and pathophysiological aspects

(2013) Martin Scheffner et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

(2013) Jacqueline K. White et al.   CELL

Microcomputed Tomography Provides High Accuracy Congenital Heart Disease Diagnosis in Neonatal and Fetal Mice

(2013) Andrew J. Kim et al.   Circulation-Cardiovascular Imaging

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

(2013) Xiaoqin Liu et al.   Circulation-Cardiovascular Imaging

Mammalian Protein Arginine Methyltransferase 7 (PRMT7) Specifically Targets RXR Sites in Lysine- and Arginine-rich Regions

(2013) You Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Molecular Characterization of Mutant Mouse Strains Generated from the EUCOMM/KOMP-CSD ES Cell Resource

(2013) Edward Ryder et al.   MAMMALIAN GENOME

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

(2013) Nadia A Akawi et al.   Orphanet Journal of Rare Diseases

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

(2013) D. Smedley et al.   Database-The Journal of Biological Databases and Curation

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

(2012) Camille Leroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

(2012) Anas M. Alazami et al.   HUMAN MUTATION

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

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

(2012)   NATURE

Robust and Sensitive Analysis of Mouse Knockout Phenotypes

(2012) Natasha A. Karp et al.   PLoS One

Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

(2011) F. Bangs et al.   DEVELOPMENT

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

Compound-heterozygous Marfan syndrome

(2008) F.S. Van Dijk et al.   European Journal of Medical Genetics