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A new bacteriophage P1–derived vector for the propagation of large human DNA fragments
We have designed a P1 vector (pCYPAC–1) for the introduction of recombinant DNA into E. coli using electroporation procedures. The new cloning system, P1–derived arteficial chromosomes (PACs), wasExpand
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate theExpand
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Maternal methylation imprints on human chromosome 15 are established during or after fertilization
Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from the lack of transcripts expressed from the paternal copy of the imprinted chromosomal region 15q11–q13 (refs. 1,2). In someExpand
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Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. We identified a male patient with GTS and other anomalies. It wasExpand
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Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations
Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15qExpand
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Human Chromosome 7: DNA Sequence and Biology
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description,Expand
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Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing
Background: Li–Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members isExpand
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Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11-year-old female proposita with a de novo unbalancedExpand
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TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.
A gene for a novel, putative cytoplasmic tyrosine kinase, TXK has been isolated from a human peripheral blood cDNA library. The complete nucleotide sequence of the cDNA indicates that it is relatedExpand
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Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated birth incidence of 1 in 2500 and marked variability of expression. The hallmark symptoms of the fully manifestedExpand
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