@article {163,
	title = {New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.},
	journal = {J Dermatol},
	volume = {42},
	year = {2015},
	month = {2015 Aug},
	pages = {821-2},
	keywords = {Arabs, Female, Founder Effect, Humans, Infant, Newborn, Keratoderma, Palmoplantar, Neurocutaneous Syndromes, Qb-SNARE Proteins, Qc-SNARE Proteins},
	issn = {1346-8138},
	doi = {10.1111/1346-8138.12917},
	author = {Ben-Salem, Salma and Nara, Sobreira and Al-Shamsi, Aisha M and Valle, David and Ali, Bassam R and Al-Gazali, Lihadh}
}
@article {193,
	title = {New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.},
	journal = {Hum Mutat},
	volume = {36},
	year = {2015},
	month = {2015 Apr},
	pages = {425-31},
	abstract = {<p>Identifying the causative variant from among the thousands identified by whole-exome sequencing or whole-genome sequencing is a formidable challenge. To make this process as efficient and flexible as possible, we have developed a Variant Analysis Module coupled to our previously described Web-based phenotype intake tool, PhenoDB (http://researchphenodb.net and http://phenodb.org). When a small number of candidate-causative variants have been identified in a study of a particular patient or family, a second, more difficult challenge becomes proof of causality for any given variant. One approach to this problem is to find other cases with a similar phenotype and mutations in the same candidate gene. Alternatively, it may be possible to develop biological evidence for causality, an approach that is assisted by making connections to basic scientists studying the gene of interest, often in the setting of a model organism. Both of these strategies benefit from an open access, online site where individual clinicians and investigators could post genes of interest. To this end, we developed GeneMatcher (http://genematcher.org), a freely accessible Website that enables connections between clinicians and researchers across the world who share an interest in the same gene(s). </p>},
	keywords = {Computational Biology, Databases, Genetic, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Variation, Genomics, Internet, Phenotype, Software, Web Browser},
	issn = {1098-1004},
	doi = {10.1002/humu.22769},
	author = {Sobreira, Nara and Schiettecatte, Fran{\c c}ois and Boehm, Corinne and Valle, David and Hamosh, Ada}
}
@article {200,
	title = {Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.},
	journal = {Mol Syndromol},
	volume = {5},
	year = {2014},
	month = {2014 Dec},
	pages = {268-75},
	abstract = {<p>Autosomal recessive osteogenesis imperfecta (OI) accounts for 10\% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed. </p>},
	issn = {1661-8769},
	doi = {10.1159/000369108},
	author = {Minillo, Renata Moldenhauer and Sobreira, Nara and de Faria Soares, Maria de Fatima and Jurgens, Julie and Ling, Hua and Hetrick, Kurt N and Doheny, Kimberly F and Valle, David and Brunoni, Decio and Perez, Ana B Alvarez}
}
