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One or more keywords matched the following items that are connected to Alkuraya, Fowzan
Item TypeName
Academic Article Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Academic Article Mutation in MPDZ causes severe congenital hydrocephalus.
Academic Article Trisomy 8 mosaicism in a patient with heterotaxia.
Academic Article An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17.
Academic Article A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.
Academic Article Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
Academic Article A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".
Academic Article Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Academic Article Autozygosity mapping with exome sequence data.
Academic Article Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
Academic Article Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Academic Article Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
Academic Article Autozygome decoded.
Academic Article Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.
Academic Article Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
Academic Article Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
Academic Article A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
Academic Article NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Academic Article Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
Academic Article C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Academic Article Discovery of rare homozygous mutations from studies of consanguineous pedigrees.
Academic Article NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
Academic Article Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Academic Article Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
Academic Article Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
Academic Article Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
Academic Article Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience.
Academic Article Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 7
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 20
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 5
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 8
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Human, Pair 9
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 15
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Concept Chromosomes, Human, Pair 17
Academic Article Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
Academic Article The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Academic Article The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.
Academic Article Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
Academic Article Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Academic Article Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.
Academic Article Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association.
Academic Article Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Academic Article Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
Academic Article A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Academic Article The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Academic Article Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Academic Article A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Academic Article Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
Academic Article A novel APC mutation defines a second locus for Cenani-Lenz syndrome.
Academic Article Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Academic Article GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
Academic Article KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Academic Article The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Academic Article Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Academic Article Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Academic Article Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Academic Article De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Academic Article Further delineation of Malan syndrome.
Academic Article Warsaw breakage syndrome: Further clinical and genetic delineation.
Academic Article ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Academic Article Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Academic Article PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Academic Article Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Search Criteria
  • Chromosomes Human Pair 9
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.