Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

c-myc and N-myc promote active stem cell metabolism and cycling as architects of the developing brain

(2015)   Oncotarget

Exome Sequencing Links Gene Mutation in Angiopoietin-Like Protein 3 With Low-Density Lipoprotein Cholesterol

(2011) Nicole L. Glazer   Circulation-Cardiovascular Genetics

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

(2010) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

(2010) Naomi J. Lohr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

(2010) Natascia Anastasio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

(2010) Anjali M. Rajadhyaksha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA damage, neuronal and glial cell death and neurodegeneration

(2010) Ari Barzilai   APOPTOSIS

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic determinants at the interface of cancer and neurodegenerative disease

(2010) L G T Morris et al.   ONCOGENE

Genetics, Medicine, and the Plain People

(2009) Kevin A. Strauss et al.   Annual Review of Genomics and Human Genetics

Reduced hippocampal damage and epileptic seizures after status epilepticus in mice lacking proapoptotic Puma

(2009) Tobias Engel et al.   FASEB JOURNAL

CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development

(2009) Vasker Bhattacherjee et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Smad2 isoforms are differentially expressed during mouse brain development and aging

(2009) Uwe Ueberham et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Transcriptome Profiling Reveals TGF-  Signaling Involvement in Epileptogenesis

(2009) L. P. Cacheaux et al.   JOURNAL OF NEUROSCIENCE

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein–Taybi syndrome etiology

(2009) Jose Viosca et al.   NEUROBIOLOGY OF DISEASE

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

(2008) Eric A. Sherman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of DNA microarrays: Molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency

(2008) Kevin A. Strauss et al.   CLINICAL IMMUNOLOGY

The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle

(2008) Sharon Biton et al.   DNA REPAIR

Methods for kinetic and thermodynamic analysis of aminoacyl-tRNA synthetases

(2008) Christopher S. Francklyn et al.   METHODS