TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

(2018) Jiaqi Liu et al.   HUMAN GENETICS

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

(2018) Nan Yang et al.   HUMAN MOLECULAR GENETICS

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

(2018) Miguel Verbitsky et al.   NATURE GENETICS

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis

(2017) Kazuki Takeda et al.   HUMAN MUTATION

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

(2016) Maver Ales et al.   GENETICS IN MEDICINE

Surgical outcomes and complications of posterior hemivertebra resection in children younger than 5 years old

(2016) Jianwei Guo et al.   Journal of Orthopaedic Surgery and Research

Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2

(2015) Wei Zhao et al.   DEVELOPMENTAL BIOLOGY

Structural variation mutagenesis of the human genome: Impact on disease and evolution

(2015) James R. Lupski   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

(2014) Hussam Al-Kateb et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling

(2014) Randall J. Platt et al.   CELL

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

(2013) Maria Sandbacka et al.   Orphanet Journal of Rare Diseases

A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis

(2012) Duncan B. Sparrow et al.   CELL

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

(2012)   NATURE

Abnormalities Associated With Congenital Scoliosis

(2012) Jianxiong Shen et al.   SPINE

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

(2010) Yiping Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Boundary formation and maintenance in tissue development

(2010) Christian Dahmann et al.   NATURE REVIEWS GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE