Novel copy number variants and major limb reduction malformation: Report of three cases

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

(2015) Brooke Weckselblatt et al.   GENOME RESEARCH

Phenotype of a patient with contiguous deletion ofTBX5andTBX3: Expanding the disease spectrum

(2014) Soujanya Bogarapu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome andARHGAP31mutations

(2014) Mala Isrie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

(2014) Sarah M. Al-Qattan et al.   GENETICS IN MEDICINE

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

(2014) Naeimeh Tayebi et al.   Orphanet Journal of Rare Diseases

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

(2013) Caroline Alby et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

(2013) Ecaterina Vasluian et al.   BMC MUSCULOSKELETAL DISORDERS

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

(2012) Sarah Vergult et al.   GENETICS IN MEDICINE

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

(2011) Laura Southgate et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

(2011) Eva Klopocki et al.   JOURNAL OF MEDICAL GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Essential mesenchymal role of small GTPase Rac1 in interdigital programmed cell death during limb development

(2009) Dai Suzuki et al.   DEVELOPMENTAL BIOLOGY