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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
TLDR
13 patients' phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal insufficiency with DG/VCFS but having other distinctive characteristics, as well, and the microduplication of 22q11.2 appears to be a new syndrome.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
TLDR
A high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21 is presented, demonstrating the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
TLDR
Results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4.
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
TLDR
The observations indicate first that XL-SMA is part of a growing list of neurodegenerative disorders associated with defects in the ubiquitin-proteasome pathway and second that synonymous C-->T transitions might have the potential to affect gene expression.
Detection of mosaic RB1 mutations in families with retinoblastoma
TLDR
It is shown that the use of linkage analysis in a two‐generation retinoblastoma family resulted in the erroneous conclusion that a child carried the parental mutation, because the founder parent was mosaic for the RB1 mutation.
The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.
TLDR
It is concluded that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk for abnormal gonadal histology, and long-term follow-up studies are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
TLDR
It is reported that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12, a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
TLDR
A chromatin-modification module that underlies a recognizable form of ID, the Kleefstra syndrome phenotypic spectrum (KSS), is identified and a highly conserved epigenetic network that underlie cognition in health and disease is proposed.
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
TLDR
The combined results show that although the SMAD4 mutations in JP–HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome, so any mutation in SMad4 can cause JP-HHT.
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
TLDR
A mosaic genetic screen of lethal mutations on the Drosophila X chromosome is conducted to identify genes required for the development, function, and maintenance of the nervous system and to provide insights into microcephaly associated with brain dysgenesis.
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