Related references
Note: Only part of the references are listed.Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects
Stela Z. Berisha et al.
BIRTH DEFECTS RESEARCH (2020)
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe et al.
NUCLEIC ACIDS RESEARCH (2020)
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
Mio Aerden et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro et al.
NATURE (2020)
The acidic tail of HMGB1 regulates its secondary structure and conformational flexibility: A circular dichroism and molecular dynamics simulation study
Wresti L. Anggayasti et al.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2020)
The single-cell transcriptional landscape of mammalian organogenesis
Junyue Cao et al.
NATURE (2019)
Deficiency in the secreted protein Semaphorin3d causes abnormal parathyroid development in mice
Anamika Singh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Kaori Yamoto et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Anna Lindstrand et al.
GENOME MEDICINE (2019)
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Muriel Holder-Espinasse et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Noncoding copy-number variations are associated with congenital limb malformation
Ricarda Floettmann et al.
GENETICS IN MEDICINE (2018)
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype
Kikue Terada Abe et al.
CLINICAL CASE REPORTS (2018)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Advancements in Next-Generation Sequencing
Shawn E. Levy et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 17 (2016)
Cx43-Dependent Skeletal Phenotypes Are Mediated by Interactions between the Hapln1a-ECM and Sema3d during Fin Regeneration
Jayalakshmi Govindan et al.
PLOS ONE (2016)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - The emerging role of combined NGS and phenotype based strategies
Ricarda Floettmann et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
Yuan Xue et al.
GENETICS IN MEDICINE (2015)
Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects
Marta Sanchez-Castro et al.
HUMAN MUTATION (2015)
Phenotypic and Molecular Characterization of 19q12q13.1 Deletions: A Report of Five Patients
Shimul Chowdhury et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome
S. Lohan et al.
CLINICAL GENETICS (2014)
Joining the Fingers: A HOXD13 Story
Nathalie Brison et al.
DEVELOPMENTAL DYNAMICS (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Michael N. Weedon et al.
NATURE GENETICS (2014)
Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
Byoung-Il Bae et al.
SCIENCE (2014)
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
Shipra Bhatia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The Evolution of Lineage-Specific Regulatory Activities in the Human Embryonic Limb
Justin Cotney et al.
CELL (2013)
HOXA13 regulates Aldh1a2 expression in the autopod to facilitate interdigital programmed cell death
Siming Shou et al.
DEVELOPMENTAL DYNAMICS (2013)
Role of the Acidic Tail of High Mobility Group Protein B1 (HMGB1) in Protein Stability and DNA Bending
Fabricio S. Belgrano et al.
PLOS ONE (2013)
Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy
L. Kroeldrup et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki et al.
JOURNAL OF MEDICAL GENETICS (2012)
Topological domains in mammalian genomes identified by analysis of chromatin interactions
Jesse R. Dixon et al.
NATURE (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
HMGB Factors Are Required for Posterior Digit Development Through Integrating Signaling Pathway Activities
Junji Itou et al.
DEVELOPMENTAL DYNAMICS (2011)
Retinoic Acid Controls Expression of Tissue Remodeling Genes Hmgn1 and Fgf18 at the Digit-Interdigit Junction
Xianling Zhao et al.
DEVELOPMENTAL DYNAMICS (2010)
Active site remodelling accompanies thioester bond formation in the SUMO E1
Shaun K. Olsen et al.
NATURE (2010)
ChIP-seq accurately predicts tissue-specific activity of enhancers
Axel Visel et al.
NATURE (2009)
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
Yongsu Jeong et al.
NATURE GENETICS (2008)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
XJ de Mollerat et al.
HUMAN MOLECULAR GENETICS (2003)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice et al.
HUMAN MOLECULAR GENETICS (2003)