Marcella Devoto

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

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Publications (185)1538.07 Total impact

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    ABSTRACT: Based on a genome-wide association study (GWAS) of testicular dysgenesis syndrome (TDS) reporting possible association with TGFBR3, we analyzed GWAS data from a larger, phenotypically restricted cryptorchidism population for potential replication of this signal.
    The Journal of urology. 10/2014;
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    ABSTRACT: The genetic etiology of sporadic neuroblastoma is still largely obscure. In a genome-wide association study, we identified single nucleotide polymorphisms (SNP) associated with neuroblastoma at the LINC00340, BARD1, LMO1, DUSP12, HSD17B12, HACE1 and LIN28B gene loci, but these explain only a small fraction of neuroblastoma heritability. Other neuroblastoma susceptibility genes are likely hidden among signals discarded by the multiple testing corrections. In this study, we evaluated 8 additional genes selected as candidates for further study based on proven involvement in neuroblastoma differentiation. SNP at these candidate genes were tested for association with disease susceptibility in 2101 cases and 4202 controls, with the associations found replicated in an independent cohort of 459 cases and 809 controls. Replicated associations were further studied for cis-effect using gene expression, transient overexpression, silencing and cellular differentiation assays. The neurofilament gene NEFL harbored three SNP associated with neuroblastoma (rs11994014; Pcombined=0.0050; OR=0.88, rs2979704; Pcombined=0.0072; OR=0.87, rs105911; Pcombined=0.0049; OR=0.86). The protective allele of rs1059111 correlated with increased NEFL expression. Biological investigations showed that ectopic overexpression of NEFL inhibited cell growth specifically in neuroblastoma cells carrying the protective allele. NEFL overexpression also enhanced differentiation and impaired the proliferation and anchorage-independent growth of cells with protective allele and basal NEFL expression, while impairing invasiveness and proliferation of cells homozygous for the risk genotype. Clinically, high levels of NEFL expression in primary neuroblastoma specimens was associated with better overall survival (P=0.03; HR=0.68). Our results show that common variants of NEFL influence neuroblastoma susceptibility and they establish that NEFL expression influences disease initiation and progression.
    Cancer research. 10/2014;
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    ABSTRACT: TP53 is the most frequently mutated gene in human malignancies; however, de novo somatic mutations in childhood embryonal cancers such as neuroblastoma are rare. We report on the analysis of three independent case-control cohorts comprising 10290 individuals and demonstrate that rs78378222 and rs35850753, rare germline variants in linkage disequilibrium that map to the 3' untranslated region (UTR) of TP53 and 5' UTR of the Δ133 isoform of TP53, respectively, are robustly associated with neuroblastoma (rs35850753: odds ratio [OR] = 2.7, 95% confidence interval [CI] = 2.0 to 3.6, P combined = 3.43×10(-12); rs78378222: OR = 2.3, 95% CI = 1.8 to 2.9, P combined = 2.03×10(-11)). All statistical tests were two-sided. These findings add neuroblastoma to the complex repertoire of human cancers influenced by the rs78378222 hypomorphic allele, which impairs proper termination and polyadenylation of TP53 transcripts. Future studies using whole-genome sequencing data are likely to reveal additional rare variants with large effect sizes contributing to neuroblastoma tumorigenesis.
    CancerSpectrum Knowledge Environment 03/2014; · 14.07 Impact Factor
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    ABSTRACT: Collagen VI related myopathies are disorders of connective tissue presenting with an overlap phenotype combining clinical involvement from the muscle and from the connective tissue. Not all patients displaying related overlap phenotypes between muscle and connective tissue have mutations in collagen VI. Here we report a homozygous recessive loss of function mutation and a de-novo dominant mutation in collagen XII (COL12A1) as underlying a novel overlap syndrome involving muscle and connective tissue. Two siblings homozygous for a loss of function mutation showed widespread joint hyperlaxity combined with weakness precluding independent ambulation, while the patient with the de novo missense mutation was more mildly affected, showing improvement including the acquisition of walking. A mouse model with inactivation of the Col12a1 gene showed decreased grip strength, a delay in fiber type transition and a deficiency in passive force generation while the muscle seems more resistant to eccentric contraction induced force drop, indicating a role for a matrix based passive force-transducing elastic element in the generation of the weakness. This new muscle connective tissue overlap syndrome expands on the emerging importance of the muscle extracellular matrix in the pathogenesis of muscle disease.
    Human Molecular Genetics 12/2013; · 7.69 Impact Factor
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    ABSTRACT: In the United States, biliary atresia (BA) is the most frequent indication for liver transplantation in pediatric patients. BA is a complex disease, with suspected environmental and genetic risk factors. A genome-wide association study in Chinese patients identified association to the 10q24.2 (hg18) genomic region. This signal was upstream of two genes, XPNPEP1 and ADD3, both expressed in intrahepatic bile ducts. We tested association to this region in 171 BA patients and 1,630 controls of European descent and found the strongest signal to be at rs7099604 (p = 2.5 × 10(-3)) in intron 1 of the ADD3 gene. Moreover, expression data suggest that ADD3, but not XPNPEP1, is differentially expressed in BA patients. The role of ADD3 in biliary development is unclear, but our findings suggest that this gene may be functionally relevant for the development of BA.
    Human Genetics 10/2013; · 4.63 Impact Factor
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    ABSTRACT: In a small proportion of patients with an Ullrich-like clinical phenotype no mutations in the collagen VI genes are detected. Here we report on a novel muscle and tendon collagenopathy caused by mutations in COL12A1. In a consanguineous family with hypotonia, weakness and significant joint hyperlaxity we identified a homozygous frame shifting mutation in COL12A1 in the two affected children, causing complete absence of collagen XII in muscle and fibroblasts. Patients were unable to walk and developed scoliosis and respiratory insufficiency. In the second family the proband presented with milder hypotonia, motor delay, hyperlaxity and incomplete deficiency of collagen XII. We identified a de novo, presumably dominantly acting missense mutation. COL12A1 encodes collagen XII. Collagen XII is a homotrimer found in association with collagen I and acts as a cross-bridge between collagen fibrils while also interacting with tenascin X (TNX), heparin and decorin. We next investigated the muscle phenotype in a Col12a1 KO mouse, which showed age dependent weakness. At 9 months of age there was no significant difference in muscle fiber size, but the overall weight of the muscles was less with an altered slow-to-fast fiber type transition in both soleus and tibilias anterior muscles. Physiological measurements on isolated EDL showed protection from eccentric force drop and a decrease in passive force, suggesting an increased compliance of the matrix as well as decreased lateral and longitudinal force transmission to the matrix and tendon. We hypothesize that the functional abnormalities seen in muscle force measurement in COL12 KO mice originate at least partly from an underlying tendon and matrix pathology caused by the absence of collagen XII.
    Neuromuscular Disorders 10/2013; 23(s 9–10):739–740. · 3.46 Impact Factor
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    ABSTRACT: Developmental Dysplasia of the Hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage resulting in arthritis. DDH affects 1 in 1000 newborns in the United States with well defined "pockets" of high prevalence in Japan, Italy and other Mediterranean countries. Although reasonably accurate for detecting gross forms of hip dysplasia, existing techniques fail to find milder forms of dysplasia. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals causing over 40% of cases in this age group. A sensitive and specific test for DDH has remained a desirable yet elusive goal in orthopaedics for a long time. A 72 member, four generation affected family has been recruited, and DNA from its members retrieved. Genome-wide linkage analysis revealed a 2.61 Mb candidate region (38.7-41.31 Mb from the p term of chromosome 3) co-inherited by all affected members with a maximum LOD score of 3.31. Whole exome sequencing and analysis of this candidate region in four severely affected family members revealed one shared variant, rs3732378, that causes a threonine (polar) to methionine (non-polar) alteration at position 280 in the trans-membrane domain of CX3CR1. This mutation is predicted to have a deleterious effect on its encoded protein which functions as a receptor for the ligand fractalkine. By Sanger sequencing this variant was found to be present in the DNA of all affected individuals and obligate heterozygotes. CX3CR1 mediates cellular adhesive and migratory functions and is known to be expressed in mesenchymal stem cells destined to become chondrocytes. A genetic risk factor that might to be among the etiologic factors for the family in this study has been identified, along with other possible aggravating mutations shared by 4 severely affected family members. These findings might illuminate the molecular pathways affecting chondrocyte maturation and bone formation.
    Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research 05/2013; · 6.04 Impact Factor
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    ABSTRACT: This report describes a three generation family with late onset bilateral sensorineural hearing impairment (BLSNHI) and tinnitus in which a novel mutation in the COCH gene was identified after a genome-wide linkage approach. The COCH gene is one of the few genes clinically examined when investigating the etiology of autosomal dominant late onset hearing impairment. Initially mutations in the COCH gene were only reported in exons 4 and 5, coding for the LCCL protein domain. More recently, additional mutations have been identified in exon 12, the only mutations identified outside of the LCCL domain. Currently clinical genetic testing for the COCH gene primarily focuses on identifying mutations in these three exons. In this study, we identify a novel mutation in the COCH gene in exon 11, which, like the exon 12 mutations, falls within the vWFA2 protein domain. This finding reinforces the need for clinical genetic screening of the COCH gene to be expanded beyond the current limited exon screening, as there is now more evidence to support that mutations in other areas of this gene are also causative of a similar form of late onset BLSNHI.
    American journal of otolaryngology 01/2013; · 0.77 Impact Factor
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    ABSTRACT: BACKGROUND & AIMS: Biliary atresia (BA) is a progressive fibro-inflammatory disorder of infants involving the extra- and intra-hepatic biliary tree. Its etiology is unclear, but is believed to involve exposure of a genetically susceptible individual to certain environmental factors. Biliary atresia occurs exclusively in the neonatal liver, so variants of genes expressed during hepatobiliary development could affect susceptibility. Genome-wide association studies previously identified a potential region of interest at 2q37. We continued these studies to narrow the region and identify BA susceptibility genes. METHODS: We searched for copy number variants that were increased among patients with BA (n=61) compared to healthy individuals (controls; n=5,088). After identifying a candidate gene, we investigated expression patterns of orthologs in zebrafish liver, and the effects of reducing expression, with morpholino antisense oligonucleotides, on biliary development, gene expression, and signal transduction. RESULTS: We observed a statistically significant increase in deletions at 2q37.3 in patients with BA that resulted in deletion of 1 copy of GPC1, which encodes glypican 1-a heparan sulfate proteoglycan that regulates Hedgehog signaling and inflammation. Knockdown of gpc1 in zebrafish led to developmental biliary defects. Exposure of the gpc1 morphants to cyclopamine, a Hedgehog antagonist, partially rescued the gpc1-knockdown phenotype. Injection of zebrafish with recombinant Sonic Hedgehog led to biliary defects similar to those of the gpc1 morphants. Liver samples from patients with BA had reduced levels of apical GPC1 in cholangiocytes, compared with samples from controls. CONCLUSIONS: Based on genetic analysis of patients with BA and zebrafish, GPC1 appears to be a BA susceptibility gene. These findings also support a role for Hedgehog signaling in the pathogenesis of BA.
    Gastroenterology 01/2013; · 12.82 Impact Factor
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    ABSTRACT: Several neuroblastoma (NB) susceptibility loci have been identified within LINC00340, BARD1, LMO1, DUSP12, HSD17B12, DDX4, IL31RA, HACE1, and LIN28B by genome-wide association (GWA) studies including European American (EA) individuals. To validate and comprehensively evaluate the impact of the identified NB variants on disease risk and phenotype, we analyzed 16 single nucleotide polymorphisms (SNPs) in an Italian population (370 cases and 809 controls). We assessed their regulatory activity on gene expression in lymphoblastoid (LCLs) and NB cell lines. We evaluated the cumulative effect of the independent loci on NB risk and high-risk phenotype development in Italian and EAs (1627 cases and 2575 controls) populations. All NB susceptibility genes replicated in the Italian dataset except for DDX4 and IL31RA, and the most significant SNP was rs6435862 in BARD1 (P=8.4x10(-15)). BARD1 showed an additional and independent SNP association (rs7585356). This variant influenced BARD1 mRNA expression in LCLs and NB cell lines. No evidence of epistasis among the NB-associated variants was detected while a cumulative effect of risk variants on NB risk (EAs: P(trend)=6.9x10(-30), Italians: P(trend)=8.55x10(-13)) and development of high-risk phenotype (EAs: P(trend)=6.9x10(-13), Italians: P(trend)=2.2x10(-1)) was observed in a dose-dependent manner. These results provide further evidence that the risk loci identified in GWA studies contribute to NB susceptibility in distinct populations and strengthen the role of BARD1 as major genetic contributor to NB risk. This study shows that even in the absence of interaction the combination of several low-penetrance alleles has potential to distinguish sub-groups of patients at different risks of developing NB.
    Carcinogenesis 12/2012; · 5.64 Impact Factor
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    ABSTRACT: OBJECTIVE: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. METHODS: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses were conducted using the software package PLINK. RESULTS: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. A Total of 39 SNPs on 10 genes demonstrated a p-value ≤0.05 prior to correction. The most significant SNPs were found on FGF10. However none of the SNPs remained significant after correcting for multiple testing. CONCLUSIONS: Although these results are promising, analysis of additional samples will be required to confirm that variants in these regions influence risk for cleft palate or palatal anomalies in 22q11.2DS patients.
    International journal of pediatric otorhinolaryngology 10/2012; · 0.85 Impact Factor
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    ABSTRACT: Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births. Approximately 9-11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of TBX1 may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated TBX1 exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant. © 2012 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 10/2012; 158A(11):2781-7. · 2.30 Impact Factor
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    ABSTRACT: Neuroblastoma is a cancer of the sympathetic nervous system that accounts for approximately 10% of all pediatric oncology deaths. Here, we report a genome-wide association study of 2,817 neuroblastoma cases and 7,473 controls. We identified two new associations at 6q16, the first within HACE1 (rs4336470; combined P = 2.7 × 10(-11); odds ratio 1.26, 95% confidence interval (CI) 1.18-1.35) and the second within LIN28B (rs17065417; combined P = 1.2 × 10(-8); odds ratio 1.38, 95% CI 1.23-1.54). Expression of LIN28B and let-7 miRNA correlated with rs17065417 genotype in neuroblastoma cell lines, and we observed significant growth inhibition upon depletion of LIN28B, specifically in neuroblastoma cells that were homozygous for the risk allele. Low HACE1 and high LIN28B expression in diagnostic primary neuroblastomas were associated with worse overall survival (P = 0.008 and 0.014, respectively). Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression.
    Nature Genetics 09/2012; 44(10):1126-30. · 35.21 Impact Factor
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    ABSTRACT: Neuroblastoma is an often fatal pediatric cancer more frequent in European-American than African-American children. African-American children, however, are at higher risk for the more severe form of neuroblastoma and have worse overall survival than European-American children. Genome-wide association studies (GWAS) have identified several single-nucleotide polymorphisms (SNP) associated to neuroblastoma in children of European descent. Knowledge of their association to neuroblastoma in African-American children is still lacking. We genotyped and imputed SNPs located in three gene regions reported to be associated to neuroblastoma in children of European descent, and tested them for association in 390 African-American patients with neuroblastoma compared with 2,500 healthy, ethnically matched controls. SNPs in the BARD1 gene region show a similar pattern of association to neuroblastoma in African-American and European-American children. The more restricted extent of linkage disequilibrium in the African-American population suggests a smaller candidate region for the putative causal variants than previously reported. Limited association was observed at the other two gene regions tested, including LMO1 in 11p15 and FLJ22536 in 6p22. Common BARD1 SNPs affect risk of neuroblastoma in African-Americans. The role of other SNPs associated to neuroblastoma in children of European descent could not be confirmed, possibly due to different patterns of linkage disequilibrium or limited statistical power to detect association to variants with small effect on disease risk. Extension of GWAS to populations of African descent is important to confirm their results and validity beyond the European populations and can help to refine the location of the putative causal variants.
    Cancer Epidemiology Biomarkers &amp Prevention 02/2012; 21(4):658-63. · 4.56 Impact Factor
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    ABSTRACT: The mechanisms underlying genetic susceptibility at loci discovered by genome-wide association study (GWAS) approaches in human cancer remain largely undefined. In this study, we characterized the high-risk neuroblastoma association at the BRCA1-related locus, BARD1, showing that disease-associated variations correlate with increased expression of the oncogenically activated isoform, BARD1β. In neuroblastoma cells, silencing of BARD1β showed genotype-specific cytotoxic effects, including decreased substrate-adherence, anchorage-independence, and foci growth. In established murine fibroblasts, overexpression of BARD1β was sufficient for neoplastic transformation. BARD1β stabilized the Aurora family of kinases in neuroblastoma cells, suggesting both a mechanism for the observed effect and a potential therapeutic strategy. Together, our findings identify BARD1β as an oncogenic driver of high-risk neuroblastoma tumorigenesis, and more generally, they illustrate how robust GWAS signals offer genomic landmarks to identify molecular mechanisms involved in both tumor initiation and malignant progression. The interaction of BARD1β with the Aurora family of kinases lends strong support to the ongoing work to develop Aurora kinase inhibitors for clinically aggressive neuroblastoma.
    Cancer Research 02/2012; 72(8):2068-78. · 9.28 Impact Factor
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    ABSTRACT: The clinical and hematologic features of β-thalassemia are modulated by different factors, resulting in a wide range of clinical severity. The main factors are the type of disease-causing mutation and the ability to produce α-globin and γ-globin chains. In the present study we investigated the respective contributions of known modifiers to the prediction of the clinical severity of β-thalassemia as assessed by the patients' age at first transfusion. We studied the effect of seven loci in a cohort of 316 Sardinian patients with β(0)-thalassemia. In addition to characterizing the β-globin gene mutations, α-globin gene defects and HBG2:g.-158C>T polymorphism, we genotyped two different markers in the BCL11A gene and three in the HBS1L-MYB intergenic region using single nucleotide polymorphism microarrays, imputation and direct genotyping. We performed Cox proportional hazard analysis of the time to first transfusion. According to the resulting model, we were able to explain phenotypic severity to a large extent (Harrell's concordance index=0.72; Cox & Snell R(2)=0.394) and demonstrated that most of the model's discriminatory ability is attributable to the genetic variants affecting fetal hemoglobin production (HBG2:g.-158C>T, BCL11A and HBS1L-MYB loci: C-index=0.68, R(2)=0.272), while the remaining is due to α-globin gene defects and gender. Consequently, significantly distinct survival curves can be described in our population. This detailed analysis clarifies the impact of genetic modifiers on the clinical severity of the disease, measured by time to first transfusion, by determining their relative contributions in a homogeneous cohort of β(0)-thalassemia patients. It may also support clinical decisions regarding the beginning of transfusion therapy in patients with β-thalassemia.
    Haematologica 01/2012; 97(7):989-93. · 5.94 Impact Factor
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    ABSTRACT: Adults with 22q11.2 Deletion syndrome (22q11DS) have increased prevalence of schizophrenia features. Our goal is to compare the neurocognitive profile in 22q11DS, schizophrenia and individuals at risk for schizophrenia. Twenty-one 22q11DS patients (8-32 years, mean 14.9 years, 15M, 6F) were matched to four comparison groups on age: low risk (n = 21), first-degree family members of schizophrenia patients (genetic risk, n = 20), individuals exhibiting putatively prodromal symptoms (clinical risk, n = 19), and patients with schizophrenia (n = 21). All participants received semi-structured interviews [Diagnostic Interview for Genetic Studies (DIGS) and the Structured Interview for Prodromal Syndromes (SIPS)], and a computerized neurocognitive battery (CNB) measuring the following domains: Abstraction and Mental Flexibility, Attention, Working Memory, Verbal Memory, Face Memory, Spatial Memory, Language, Spatial Processing, Sensorimotor Dexterity, and Emotion Processing. Sixty percent of 22q11DS participants met SIPS criteria for prodromal symptoms and one participant met criteria for paranoid schizophrenia. Thirty-eight percent met criteria for Depressive Disorders. All 22q11DS participants successfully completed the CNB. 22q11DS participants were significantly less accurate in nearly all domains, but had similar speed of response compared to the other groups. Their profile resembled that of the psychosis groups in accuracy and speed, except for more pronounced deficits in accuracy for face memory and emotion processing. Subthreshold psychotic symptoms are present in a high proportion of 22q11DS participants. Deficits shown in the CNB are more pronounced for accuracy than speed relative to the psychosis groups with similar profiles. Similar deficits have been described in the 22q11DS population using non-computerized measures, which require increased testing time.
    American Journal of Medical Genetics Part B Neuropsychiatric Genetics 01/2012; 159B(1):87-93. · 3.23 Impact Factor
  • Marcella Devoto, Mario Falchi
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    ABSTRACT: Quantitative variation underlies normal as well as pathological traits, and large part of this variability is under the control of genetic loci. Thanks to a better understanding of the extent and nature of human genetic variability and the subsequent availability of an increasing number of genetic markers, genetic mapping of several such quantitative trait loci, or QTLs, has been accomplished in the past 20 years or so using linkage and association analysis in family-based and population-based studies. Rather than alternative, such methods are complementary as each has optimal power of detecting genetic variants underlying variability of quantitative traits under different scenarios defined by the QTL allele frequencies and magnitude of genetic effects. We describe how to apply such analyses to whole-genome or candidate-gene genetic marker data to correlate genetic variability to quantitative trait variability for the purpose of gene mapping and identification.
    Methods in molecular biology (Clifton, N.J.) 01/2012; 871:281-311. · 1.29 Impact Factor

Publication Stats

6k Citations
1,538.07 Total Impact Points

Institutions

  • 2004–2014
    • The Children's Hospital of Philadelphia
      • • Center for Applied Genomics
      • • Department of Child and Adolescent Psychiatry
      • • Department of Ophthalmology
      • • Division of Human Genetics and Molecular Biology
      Philadelphia, Pennsylvania, United States
  • 2011
    • Hospital of the University of Pennsylvania
      • Department of Psychiatry
      Philadelphia, Pennsylvania, United States
  • 2003–2009
    • University of Pennsylvania
      • • Department of Pediatrics
      • • Department of Medicine
      • • Department of Ophthalmology
      Philadelphia, PA, United States
    • Drexel University
      Philadelphia, Pennsylvania, United States
  • 1985–2008
    • Università degli Studi di Roma "La Sapienza"
      • Department of Experimental Medicine
      Roma, Latium, Italy
  • 1998–2007
    • Università degli Studi di Genova
      • Dipartimento di Medicina sperimentale (DIMES)
      Genova, Liguria, Italy
  • 1992–2006
    • National Institute of Molecular Genetics (INGM)
      Milano, Lombardy, Italy
    • Institute of Molecular Biology, SAS
      Presburg, Bratislavský, Slovakia
  • 2005
    • National Research Council
      • Institute of Population Genetics IGP
      Roma, Latium, Italy
    • New York State Psychiatric Institute
      New York City, New York, United States
  • 2001–2005
    • Nemours
      • Biomedical Research
      Jacksonville, FL, United States
    • Johns Hopkins University
      Baltimore, Maryland, United States
  • 1997–1999
    • The Rockefeller University
      New York City, New York, United States
  • 1996
    • Columbia University
      • Department of Psychiatry
      New York City, NY, United States
    • Case Western Reserve University
      • Department of Medicine (University Hospitals Case Medical Center)
      Cleveland, Ohio, United States
  • 1995
    • Universität Heidelberg
      • Department of Nephrology
      Heidelberg, Baden-Wuerttemberg, Germany
  • 1989–1994
    • IRCCS Istituto G. Gaslini
      Genova, Liguria, Italy
  • 1993
    • GENOMA Molecular Genetics Laboratory
      Roma, Latium, Italy
  • 1991
    • CROnos S.r.l.
      Milano, Lombardy, Italy
  • 1988
    • Rigshospitalet
      • Department of Paediatrics
      Copenhagen, Capital Region, Denmark
    • University of London
      Londinium, England, United Kingdom