pedigree

Summary

Summary: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

Top Publications

  1. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
  2. ncbi Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
  3. pmc Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
    Hui Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:380-7. 2009
  4. pmc Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    N Engl J Med 362:1181-91. 2010
  5. pmc Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
    Zhou Zhou
    Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China
    Mol Vis 16:713-9. 2010
  6. ncbi Efficient methods to compute genomic predictions
    P M Vanraden
    Animal Improvement Programs Laboratory, Agricultural Research Service, USDA, Beltsville, MD 20705 2350, USA
    J Dairy Sci 91:4414-23. 2008
  7. pmc Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    Jared C Roach
    Institute for Systems Biology, Seattle, WA 98103, USA
    Science 328:636-9. 2010
  8. ncbi A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    Y Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132
    Science 266:66-71. 1994
  9. ncbi Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    Caroline Vance
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    Science 323:1208-11. 2009
  10. ncbi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008

Detail Information

Publications382 found, 100 shown here

  1. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
    ..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration...
  2. ncbi Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
    ..Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families...
  3. pmc Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
    Hui Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:380-7. 2009
    ..Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP...
  4. pmc Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    N Engl J Med 362:1181-91. 2010
    ..We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease...
  5. pmc Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
    Zhou Zhou
    Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China
    Mol Vis 16:713-9. 2010
    ..To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract...
  6. ncbi Efficient methods to compute genomic predictions
    P M Vanraden
    Animal Improvement Programs Laboratory, Agricultural Research Service, USDA, Beltsville, MD 20705 2350, USA
    J Dairy Sci 91:4414-23. 2008
    ..Actual gains may differ because the simulation did not account for linkage disequilibrium in the base population or selection in subsequent generations...
  7. pmc Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    Jared C Roach
    Institute for Systems Biology, Seattle, WA 98103, USA
    Science 328:636-9. 2010
    ..Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. Our results demonstrate the value of complete genome sequencing in families...
  8. ncbi A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    Y Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132
    Science 266:66-71. 1994
    ..Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology...
  9. ncbi Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    Caroline Vance
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    Science 323:1208-11. 2009
    ..FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration...
  10. ncbi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
    ..These findings further corroborate that TDP-43 is involved in ALS pathogenesis...
  11. ncbi Merlin--rapid analysis of dense genetic maps using sparse gene flow trees
    Goncalo R Abecasis
    The Wellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Nat Genet 30:97-101. 2002
    ..Here we describe a new, efficient method for the analysis of dense genetic maps in pedigree data that provides extremely fast solutions to common problems such as allele-sharing analyses and haplotyping...
  12. ncbi Fine-scale recombination rate differences between sexes, populations and individuals
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 467:1099-103. 2010
    ....
  13. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
    ..We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site...
  14. ncbi Worldwide human relationships inferred from genome-wide patterns of variation
    Jun Z Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Science 319:1100-4. 2008
    ..This data set allows the most comprehensive characterization to date of human genetic variation...
  15. ncbi Hereditary colorectal cancer
    Henry T Lynch
    Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebr 68178, USA
    N Engl J Med 348:919-32. 2003
  16. ncbi Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    Alfons Meindl
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar der Technischen Universitaet Muenchen, Munich, Germany
    Nat Genet 42:410-4. 2010
    ..These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis...
  17. pmc Runs of homozygosity in European populations
    Ruth McQuillan
    Public Health Sciences, University of Edinburgh Medical School, Edinburgh EH8 9AG, UK
    Am J Hum Genet 83:359-72. 2008
    ..With the use of good pedigree data for one of the populations (Orkney), F(roh) was found to correlate strongly with the inbreeding coefficient ..
  18. pmc Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus MC, 3000 CA Rotterdam, The Netherlands
    Genetics 177:577-85. 2007
    For pedigree-based quantitative trait loci (QTL) association analysis, a range of methods utilizing within-family variation such as transmission-disequilibrium test (TDT)-based methods have been developed...
  19. pmc Predicting quantitative traits with regression models for dense molecular markers and pedigree
    Gustavo de Los Campos
    Department of Animal Sciences, University of Wisconsin, Madison, Wisconsin 53706, USA
    Genetics 182:375-85. 2009
    ..Results indicate that inclusion of markers in the regression further improved the predictive ability of models. An R program that implements the proposed model is freely available...
  20. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
    ..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
  21. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  22. ncbi Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  23. pmc Different models of genetic variation and their effect on genomic evaluation
    Samuel A Clark
    School of Environmental and Rural Science, University of New England, Armidale, NSW 2351, Australia
    Genet Sel Evol 43:18. 2011
    ..Therefore, a better understanding of what genomic selection actually predicts is relevant so that appropriate methods of analysis are used in genomic evaluations...
  24. ncbi Epigenetic inheritance at the agouti locus in the mouse
    H D Morgan
    Department of Biochemistry, University of Sydney, NSW, 2006, Australia
    Nat Genet 23:314-8. 1999
    ..Because retrotransposons are abundant in mammalian genomes, this type of inheritance may be common...
  25. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ....
  26. pmc Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
    Kaya Bilguvar
    Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Nature 467:207-10. 2010
    ..These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging...
  27. ncbi Increased exonic de novo mutation rate in individuals with schizophrenia
    Simon L Girard
    Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Montreal, Quebec, Canada
    Nat Genet 43:860-3. 2011
    ..Our study supports the notion that DNMs may account for some of the heritability reported for schizophrenia while providing a list of genes possibly involved in disease pathogenesis...
  28. ncbi Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles D J Watts
    Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:377-81. 2004
    ..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
  29. pmc A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
    Agnes L Nishimura
    Human Genome Research Center, Department of Biology, Biosciences Institute, Sao Paulo University, Sao Paulo, Brazil
    Am J Hum Genet 75:822-31. 2004
    ..These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking...
  30. ncbi Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    D Malkin
    Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129
    Science 250:1233-8. 1990
    ..The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation...
  31. pmc Multipoint quantitative-trait linkage analysis in general pedigrees
    L Almasy
    Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245 0549, USA
    Am J Hum Genet 62:1198-211. 1998
    ..IBDs can be utilized in variance-component linkage analysis, which considers the likelihood of the entire pedigree jointly...
  32. pmc PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:165-7. 2007
    ..i.) = 1.4-3.9, P = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition...
  33. pmc A genomic background based method for association analysis in related individuals
    Najaf Amin
    Department of Epidemiology and Biostatistics, Erasmus University Medical Center MC Rotterdam, Rotterdam, The Netherlands
    PLoS ONE 2:e1274. 2007
    ..two-step method called Genome-wide Association using Mixed Model and Regression (GRAMMAR) for the analysis of pedigree-based quantitative traits...
  34. ncbi Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    Marianne Abifadel
    INSERM U383, Hopital Necker Enfants Malades, AP HP, Universite Paris V, 149 161 Rue de Sèvres, 75743 Paris Cedex 15, France
    Nat Genet 34:154-6. 2003
    ..PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis...
  35. pmc PedCheck: a program for identification of genotype incompatibilities in linkage analysis
    J R O'Connell
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Am J Hum Genet 63:259-66. 1998
    Prior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the pedigree data is essential. Often, identification of erroneous genotypes by visual inspection can be very difficult and time consuming...
  36. pmc Whole-exome-sequencing-based discovery of human FADD deficiency
    Alexandre Bolze
    The Rockefeller University, New York, NY 10065, USA
    Am J Hum Genet 87:873-81. 2010
    ..We describe here a complex clinical disorder, its genetic basis, and some of the key mechanisms underlying its pathogenesis. Our findings highlight the key role of FADD in Fas-dependent and Fas-independent signaling pathways in humans...
  37. pmc Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Stephane Jamain
    Laboratoire de génétique humaine et fonctions cognitives, Universite Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France
    Nat Genet 34:27-9. 2003
    ..These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism...
  38. ncbi Hot topic: a unified approach to utilize phenotypic, full pedigree, and genomic information for genetic evaluation of Holstein final score
    I Aguilar
    Animal and Dairy Science Department, University of Georgia, Athens 30602 Instituto Nacional de Investigación Agropecuaria, Las Brujas 90200, Uruguay
    J Dairy Sci 93:743-52. 2010
    The first national single-step, full-information (phenotype, pedigree, and marker genotype) genetic evaluation was developed for final score of US Holsteins...
  39. pmc Heterozygous TGFBR2 mutations in Marfan syndrome
    Takeshi Mizuguchi
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 36:855-60. 2004
    ..These results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders...
  40. ncbi An SCN9A channelopathy causes congenital inability to experience pain
    James J Cox
    Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, Cambridge CB2 0XY, UK
    Nature 444:894-8. 2006
    ..Our data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans. These findings should stimulate the search for novel analgesics that selectively target this sodium channel subunit...
  41. ncbi Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    K A McAllister
    Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710
    Nat Genet 8:345-51. 1994
    ..We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex...
  42. ncbi Germline mutations in RAD51D confer susceptibility to ovarian cancer
    Chey Loveday
    Section of Cancer Genetics, The Institute of Cancer Research, Sutton, UK
    Nat Genet 43:879-82. 2011
    ..Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers...
  43. ncbi Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
    Limin Zhu
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Département de génétique, 75015 Paris, France
    Nat Genet 38:343-9. 2006
    ..Human MYH11 gene mutations provide the first example of a direct change in a specific SMC protein leading to an inherited arterial disease...
  44. pmc Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
    Nara L M Sobreira
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    PLoS Genet 6:e1000991. 2010
    ..This combination of a new technology and a classical genetic approach provides a powerful strategy to discover the genes responsible for unexplained Mendelian disorders...
  45. pmc Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    Sian Jones
    Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA
    Science 324:217. 2009
    ..These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease...
  46. pmc A phasing and imputation method for pedigreed populations that results in a single-stage genomic evaluation
    John M Hickey
    School of Environmental and Rural Science, University of New England, Armidale, Australia
    Genet Sel Evol 44:9. 2012
    ..An algorithm that imputes alleles or allele probabilities for all animals in the pedigree and for all genotyped single nucleotide polymorphisms (SNP) provides a framework to combine all pedigree, genomic,..
  47. pmc The architecture of long-range haplotypes shared within and across populations
    Alexander Gusev
    Department of Computer Science, Columbia University, New York, New York, USA
    Mol Biol Evol 29:473-86. 2012
    ..These are inconsistent with recent relatedness and suggest ancient common ancestry, with limited recombination between haplotypes...
  48. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
    ..We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (..
  49. pmc The impact of genetic relationship information on genomic breeding values in German Holstein cattle
    David Habier
    Institute of Animal Breeding and Husbandry, Christian Albrechts University of Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
    Genet Sel Evol 42:5. 2010
    ..However, this impact and the accuracy of GEBVs due to linkage disequilibrium (LD), which is fairly persistent over generations, must be known to implement future breeding programs...
  50. ncbi Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
    ..We identified a Cuban pedigree linked to the locus for Usher syndrome type 1D (MIM 601067) within the q2 region of chromosome 10)...
  51. ncbi Computing procedures for genetic evaluation including phenotypic, full pedigree, and genomic information
    I Misztal
    Department of Animal and Dairy Science, University of Georgia, Athens, Georgia 30602, USA
    J Dairy Sci 92:4648-55. 2009
    ..When the information attributable to genomics can be expressed as modifications to the numerator relationship matrix, the proposed methodology may allow the upgrading of an existing evaluation to incorporate the genomic information...
  52. ncbi Identity by descent between distant relatives: detection and applications
    Sharon R Browning
    Department of Statistics, University of Washington, Seattle, Washington 98195, USA
    Annu Rev Genet 46:617-33. 2012
    ..In this review, we explain the principles behind methods for IBD segment detection, describe recently developed methods, discuss approaches to comparing methods, and give an overview of applications...
  53. pmc Different genomic relationship matrices for single-step analysis using phenotypic, pedigree and genomic information
    Selma Forni
    Genus plc, Hendersonville, TN, USA
    Genet Sel Evol 43:1. 2011
    ..coefficients into the numerator relationship matrix allows estimation of breeding values using all phenotypic, pedigree and genomic information simultaneously...
  54. ncbi Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
    Fernando Jose Martinez
    Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA
    J Med Genet 49:380-5. 2012
    ..Over 140 cases have been reported, but the genetic basis is not understood...
  55. ncbi Mutations in NOTCH1 cause aortic valve disease
    Vidu Garg
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9148, USA
    Nature 437:270-4. 2005
    ..These results suggest that NOTCH1 mutations cause an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease...
  56. ncbi Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
    Dong Chuan Guo
    Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Nat Genet 39:1488-93. 2007
    ..These data, along with the previously reported MYH11 mutations causing familial TAAD, indicate the importance of SMC contraction in maintaining the structural integrity of the ascending aorta...
  57. pmc Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
    Alexandros Onoufriadis
    Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK
    Am J Hum Genet 92:88-98. 2013
    ..One CCDC114 mutation, c.742G>A, dating back to at least the 1400s, presents an important diagnostic and therapeutic target in the isolated Dutch Volendam population...
  58. ncbi Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa
    Paola Benaglio
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Hum Mutat 32:E2246-58. 2011
    ..We conclude that, although this strategy can be adopted for rapid discovery of new disease-associated variants, it still requires extensive validation to be used in routine DNA screenings...
  59. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
    ..These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone...
  60. pmc Improving the accuracy and efficiency of identity-by-descent detection in population data
    Brian L Browning
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Genetics 194:459-71. 2013
    ..Refined IBD is powerful, highly accurate, and easy to use and is implemented in Beagle version 4...
  61. ncbi Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
    ....
  62. pmc Estimating genetic parameters in natural populations using the "animal model"
    Loeske E B Kruuk
    Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh EH9 3JT, Scotland, UK
    Philos Trans R Soc Lond B Biol Sci 359:873-90. 2004
    ....
  63. ncbi A relationship matrix including full pedigree and genomic information
    A Legarra
    INRA, UR631 SAGA, BP 52627, 32326 Castanet Tolosan, France
    J Dairy Sci 92:4656-63. 2009
    ..two-step procedure where pseudo-data (for instance, daughter yield deviations) are computed from full records and pedigree data and later used for genomic evaluation. This results in bias and loss of information...
  64. ncbi Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree
    K P Lesch
    ADHD Clinical Research Network, Unit for Molecular Psychiatry, Laboratory of Translational Neuroscience, Department of Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany
    Mol Psychiatry 16:491-503. 2011
    ..These findings implicate CNVs of behaviour-related genes in the pathogenesis of ADHD and are consistent with the notion that both frequent and rare variants influence the development of this common multifactorial syndrome...
  65. pmc Meta-analysis of 32 genome-wide linkage studies of schizophrenia
    M Y M Ng
    King s College London, Department of Medical and Molecular Genetics, London, UK
    Mol Psychiatry 14:774-85. 2009
    ..Therefore, the regions supported by this meta-analysis deserve close attention in future studies...
  66. pmc Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
    Adam L Boxer
    UCSF Memory and Aging Center, University of California San Francisco, CA 94143, USA
    J Neurol Neurosurg Psychiatry 82:196-203. 2011
    ..Previous studies have identified a region on chromosome 9p that is associated with FTD and ALS...
  67. pmc Germline mutations in BAP1 predispose to melanocytic tumors
    Thomas Wiesner
    Department of Dermatology, Medical University of Graz, Graz, Austria
    Nat Genet 43:1018-21. 2011
    ..These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm...
  68. ncbi Accuracy of genotype imputation in sheep breeds
    B J Hayes
    Biosciences Research Division, Department of Primary Industries, 1 Park Drive, Bundoora, Victoria 3083, Australia
    Anim Genet 43:72-80. 2012
    ..The accuracy of imputation could also be increased if pedigree information was available and was used in tracking inheritance of large chromosome segments within families...
  69. pmc Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
    Luyan Liu
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France
    J Exp Med 208:1635-48. 2011
    ..Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity...
  70. pmc Accuracies of genomic breeding values in American Angus beef cattle using K-means clustering for cross-validation
    Mahdi Saatchi
    Department of Animal Science, Iowa State University, Ames, IA 50011, USA
    Genet Sel Evol 43:40. 2011
    ..The objective of this study was to estimate marker effects to derive prediction equations for direct genomic values for 16 routinely recorded traits of American Angus beef cattle and quantify corresponding accuracies of prediction...
  71. pmc Replication and explorations of high-order epistasis using a large advanced intercross line pedigree
    Mats Pettersson
    Department of Animal Breeding and Genetics, Swedish University of Agriculture Sciences SLU, Uppsala, Sweden
    PLoS Genet 7:e1002180. 2011
    ..Our results illustrate the importance of designing studies that facilitate exploration of epistasis in populations for obtaining a comprehensive understanding of the genetics underlying a complex trait...
  72. ncbi A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    M Morita
    Day Neuromuscular Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA
    Neurology 66:839-44. 2006
    ..To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD)...
  73. pmc A method for detecting IBD regions simultaneously in multiple individuals--with applications to disease genetics
    Ida Moltke
    The Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, Denmark
    Genome Res 21:1168-80. 2011
    ..However, IBD regions can be difficult to detect, especially in the common case where no pedigree information is available...
  74. pmc Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
    Timothy W Yu
    Division of Genetics, Department of Medicine, Children s Hospital Boston, Boston, Massachusetts, USA
    Nat Genet 42:1015-20. 2010
    ..The diverse phenotypes of WDR62 suggest it has central roles in many aspects of cerebral cortical development...
  75. ncbi TDP-43 mutation in familial amyotrophic lateral sclerosis
    Akio Yokoseki
    Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan
    Ann Neurol 63:538-42. 2008
    ..Our findings provide a new insight into the molecular pathogenesis of ALS...
  76. ncbi STAT3 mutations in the hyper-IgE syndrome
    Steven M Holland
    National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
    N Engl J Med 357:1608-19. 2007
    ..Inheritance is autosomal dominant; sporadic cases are also found...
  77. ncbi Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    Tayebeh Rezaie
    Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA
    Science 295:1077-9. 2002
    ..Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role...
  78. ncbi VSX1: a gene for posterior polymorphous dystrophy and keratoconus
    Elise Heon
    Cellular and Molecular Division, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
    Hum Mol Genet 11:1029-36. 2002
    ..These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina...
  79. ncbi Reconciling the analysis of IBD and IBS in complex trait studies
    Joseph E Powell
    Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland 4006, Australia
    Nat Rev Genet 11:800-5. 2010
    ..Recognizing this aim leads to better methods to estimating IBD with benefits in mapping genes, estimating genetic variance and predicting inbreeding depression...
  80. ncbi Telomerase mutations in families with idiopathic pulmonary fibrosis
    Mary Y Armanios
    Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
    N Engl J Med 356:1317-26. 2007
    ....
  81. pmc Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
    C G Steward
    Department of Paediatric Haematology, Oncology and BMT, Royal Hospital for Children, Upper Maudlin St, Bristol, UK
    Prenat Diagn 30:970-6. 2010
    ..We wished to determine whether BTHS had a significant impact on fetal and perinatal health in a large cohort of family groups originating from a defined region...
  82. ncbi Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
    S I Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Clin Genet 72:546-50. 2007
    ..R34X and other mutations of TMC1 are prevalent contributors to the genetic load of deafness across a variety of populations and continents...
  83. ncbi Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma
    L Zuo
    Sequana Therapeutics Inc, La Jolla, California 92037, USA
    Nat Genet 12:97-9. 1996
  84. ncbi Linkage of early-onset familial breast cancer to chromosome 17q21
    J M Hall
    School of Public Health, University of California, Berkeley 94720
    Science 250:1684-9. 1990
    ..Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region...
  85. ncbi The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
    ..FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat...
  86. ncbi Congenital heart disease caused by mutations in the transcription factor NKX2-5
    J J Schott
    Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Science 281:108-11. 1998
    ..These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life...
  87. ncbi A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
    N de Roux
    INSERM unité 135, Institut Fédératif de Recherche 21, Hopital de Bicetre, Le Kremlin Bicetre, France
    N Engl J Med 337:1597-602. 1997
  88. pmc Telomere shortening in familial and sporadic pulmonary fibrosis
    Jennifer T Cronkhite
    Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390 8591, USA
    Am J Respir Crit Care Med 178:729-37. 2008
    ..Heterozygous mutations in the coding regions of the telomerase genes, TERT and TERC, have been found in familial and sporadic cases of idiopathic interstitial pneumonia. All affected patients with mutations have short telomeres...
  89. pmc A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
    Xiang He
    Department of Genetics, National Research Institute for Family Planning, Beijing, China
    Mol Vis 14:56-60. 2008
    ..To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family...
  90. pmc Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    Mary Armanios
    Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 102:15960-4. 2005
    ..We identified a three-generation pedigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere shortening...
  91. pmc Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
    Ningdong Li
    Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin, People s Republic of China
    Mol Vis 14:733-8. 2008
    ..Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families with infantile nystagmus...
  92. ncbi Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci
    Luigi Bisceglia
    Medical Genetics Service, San Giovanni Rotondo, Italy
    Invest Ophthalmol Vis Sci 50:1081-6. 2009
    ..The aim of this study was to identify causative/susceptibility genes for keratoconus...
  93. ncbi Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    T Kitada
    Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    Nature 392:605-8. 1998
    ..Mutations in the newly identified gene appear to be responsible for the pathogenesis of AR-JP, and we have therefore named the protein product 'Parkin'...
  94. pmc Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
    Simon Edvardson
    Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel
    Am J Hum Genet 81:857-62. 2007
    ..We speculate that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery...
  95. pmc Case-control association testing with related individuals: a more powerful quasi-likelihood score test
    Timothy Thornton
    Department of Statistics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 81:321-37. 2007
    ..We provide new insight into the use of pedigree-based weights to improve power, and we propose a novel test, the MQLS test, which, as we demonstrate, represents ..
  96. pmc Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
    Crystel Bonnet
    Unite de Genetique Medicale, INSERM UMRS 587, Hopital d Enfants Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 6:21. 2011
    ..Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool...
  97. ncbi Uncovering the roles of rare variants in common disease through whole-genome sequencing
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina 27708, USA
    Nat Rev Genet 11:415-25. 2010
    ..Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification...
  98. pmc Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree
    Yali Xue
    The Wellcome Trust Sanger Institute, Hinxton, Cambs CB10 1SA, UK
    Curr Biol 19:1453-7. 2009
    ..The latter could be placed in different positions on the pedigree and led to a mutation-rate measurement of 3.0 x 10(-8) mutations/nucleotide/generation (95% CI: 8.9 x 10(-9)-7...
  99. ncbi A genetic linkage map of microsatellites in the domestic cat (Felis catus)
    M Menotti-Raymond
    Laboratory of Genomic Diversity, NCI FCRDC, Frederick, Maryland, 21702, USA
    Genomics 57:9-23. 1999
    ..repeat loci were identified and genotyped in a two-family, 108-member multigeneration interspecies backcross pedigree between the domestic cat (F. catus) and the Asian leopard cat (Prionailurus bengalensis)...
  100. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
    ..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity...
  101. ncbi OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    C Alexander
    Department of Molecular Genetics, Insititute of Ophthalmology, University College London, London, UK
    Nat Genet 26:211-5. 2000
    ..The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity...

Research Grants75

  1. High Throughput Genotyping and DNA Sequencing for Studying the Genetic Contributi
    Sonia Dua; Fiscal Year: 2013
    ..bioinformatic systems and processes as specified by the COR and/or CSO, for storage and retrieval of clinical, pedigree, genotypic, reagent, project tracking, quality control and other laboratory data...
  2. Early Life Conditions, Survival, and Health: A Pedigree-Based Population Study
    Ken R Smith; Fiscal Year: 2013
    ..We also test if there is effect modification of APOE alleles on the association between ELCS &later-life biomarkers. ..
  3. Forward Genetics to Identify Complex Gene Interactions Involved in Glaucoma
    Elena V Semina; Fiscal Year: 2010
    ..Using forward genetics in zebrafish and pedigree/patient DNA sequence analysis in humans, we will identify complex genetic interactions that contribute to ..
  4. Transgenic Study of ALS-Linked CCS Mutations
    Han Xiang Deng; Fiscal Year: 2011
    ..A CCSG222R mutation was identified in a pedigree with three patients affected with ALS and a CCSR71W mutation was found in a sporadic ALS case...
  5. Discovery of Mendelian Dyslipidemia and Heart Attack Genes Using Exome Sequencing
    Sekar Kathiresan; Fiscal Year: 2013
    ..and mutation(s) in each family may be discovered with exome analysis of just a few affected individuals in each pedigree;and (3) the newly discovered genes can be demonstrated to relate not only to LDL-C but also to MI risk in the ..
  6. Telomere Shortening and Stem Cell Maintenance
    Mary Y Armanios; Fiscal Year: 2010
    ..This pedigree displays dominant inheritance of aplastic anemia and idiopathic pulmonary fibrosis with anticipation...
  7. Genetics of Bone Structure and Metabolism
    Michael C Mahaney; Fiscal Year: 2013
    ..With 2000 members already genotyped at over 400 marker loci, the single, unbroken, non-inbred Jirel pedigree currently is the largest and most powerful dataset available to a genome scanning study...
  8. Whole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD Risk
    David C Glahn; Fiscal Year: 2013
    ..our objectives, we will (1) localize additional CVD-related QTLs due to rare functional variants using novel pedigree-specific localization methods, (2) obtain whole genome sequence information for 1,957 Mexican American ..
  9. Dopamine Transporter Cell Surface Dynamics
    Haley E Melikian; Fiscal Year: 2013
    ..Recent studies in an ADHD pedigree have identified a DAT mutant that has altered DAT trafficking kinetics, both under basal and AMPH-stimulated ..
  10. Dissecting the genetics of the Metabolic Syndrome on Chromosome 17 of the LH rat
    Anne E Kwitek; Fiscal Year: 2012
    ..For the strongest candidate with evidence of functional sequence variants identified in the above aims, we will develop a transgenic rat, either introducing the LN allele into the LH rat or the LH allele into the LH-17LN. ..
  11. Identification of XX DSD Mutations by RNA-seq and Comparative Genomics
    Vicki N Meyers-Wallen; Fiscal Year: 2013
    ..The canine model is the only model of this XX DSD subtype. In the canine research pedigree, XX DSD is an autosomal recessive trait with expression limited to XX siblings, which develop testes or ovotestes...
  12. Planning Grant for Genome-Wide Association Study of Craniofacial Microsomia
    JACQUELINE R contact STARR; Fiscal Year: 2010
    ..cases suggesting autosomal recessive or dominant inheritance;evidence of genomewide linkage to 14q32 in one pedigree;fourfold familial relative risks;and CFM phenocopies induced through genetic mutations in animals...
  13. Genetic Complexity and Modifiers of Hirschsprung Disease
    E Michelle Southard-Smith; Fiscal Year: 2011
    ..Aim 1 will use genome-wide analysis of a large F2 cohort and an extended FT backcross pedigree of Sox10[unreadable][unreadable]m mice to identify refined intervals of aganglionosis modifiers and define ..
  14. Analysis of replication fork-collapse in yeast by site-specific DNA nicking
    RANJITH PRASAD ANAND; Fiscal Year: 2013
    ..By means of pedigree analysis, the viability of cells in th event of fork collapse will be tested in HR and PRR mutants to ascertain ..
  15. Attempted Suicide Candidate Gene Resequencing
    Virginia L Willour; Fiscal Year: 2013
    ..Remarkably, when we examined the suicidal behavior phenotype in our bipolar disorder pedigree set, we found that the strongest evidence for linkage across the genome was in the same region, at the same ..
  16. Long term Impact and Intervention for Diarrhea in Brazil
    Richard L Guerrant; Fiscal Year: 2013
    ..In a separate population, the project will build on an existing pedigree database to double the number of individuals studied, and to allow staged replicate studies of GWAS findings ..
  17. Genetics of Parkonsonism
    Jeffery Marvin Vance; Fiscal Year: 2013
    ..Specific Aim 2 utilizes a large Amish pedigree to look for rare variants using WES, targeted capture and potentially whole genome sequencing...
  18. The Role of SLITRK1 in Tourette and Related Disorders
    Matthew W State; Fiscal Year: 2010
    ..through the mapping of a de novo chromosomal abnormality in the only affected member of a three-generation pedigree. Mutation screening of 204 probands subsequently identified: 1) a truncating frameshift mutation that was present ..
  19. PEDIGREE: Prenatal Environmental Determinants of InterGenerational Risk
    Mary Beth Terry; Fiscal Year: 2013
    ....
  20. Functions of TEX11 and its associated proteins in mice and humans
    Peijing Jeremy Wang; Fiscal Year: 2013
    ..are expected to be extremely rare and 2) causality is nearly impossible to prove for infertility, as traditional pedigree-based linkage analyses are not applicable, due to the lack of offspring...
  21. Gene interaction in development and disease
    Miriam H Meisler; Fiscal Year: 2013
    ..We will investigate the functional properties of a novel mutation of FAB1 discovered in a large pedigree with Charcot-Marie-Tooth disease, as well as a novel variant of FIG4 discovered in a consanguineous pedigree with ..
  22. Genetics of Foot Disorders
    Joanne M Jordan; Fiscal Year: 2012
    ..Heritability of foot biomechanics measurements will be estimated in the FHS using pedigree structure by a variance component analysis...
  23. Dissecting Genetic Mechanisms of Hypertrophic Cardiomyopathy by ENU Mutagenesis
    Ferhaan Ahmad; Fiscal Year: 2012
    ..We will select ~6 pedigrees with potentially novel genetic mutations (including an HCM pedigree that we have already identified)...
  24. ESTABLISHMENT OF A SPF RHESUS MACAQUE COLONY
    LARRY BILL CUMMINS; Fiscal Year: 2011
    ..3. To maximize the long term efficiency of colony production by a) establishing, managing, and utilizing a pedigree database for genetic management of the colony...
  25. Rare Variant Associations With Severe Obesity in Utah Pedigrees
    Steven C Hunt; Fiscal Year: 2013
    ..genome harboring low frequency variants will be identified using both a modified GWAS haplotype approach and a pedigree-specific shared genomic sequence approach utilizing whole exome resequencing...
  26. ESTABLISHMENT OF A SPF RHESUS MACAQUE COLONY
    John L Vandeberg; Fiscal Year: 2013
    ..will be replaced by single nucleotide polymorphisms (SNPs), which will be used to establish and verify pedigree information...
  27. Genomics of Developmental Trajectories in Twins
    James J Hudziak; Fiscal Year: 2010
    ..CNV effects, whether de novo or pedigree based, contributing to risk for complex traits such as common developmental psychopathology like childhood ADHD, ..
  28. Genetics of Anxiety Disorders
    Joel Gelernter; Fiscal Year: 2013
    ..We have completed exome sequencing for 20 PD samples, 12 selected from a single pedigree and 8 unrelated selected from 8 additional pedigrees...
  29. STATISTICAL METHODS FOR GENE MAPPING
    Kenneth L Lange; Fiscal Year: 2013
    ..our tests for intergenerational effects;and more efficient algorithms for genome-wide association tests based on pedigree data...
  30. Genetic Epidemiology of Chronic Lymphocytic Leukemia
    Nicola J Camp; Fiscal Year: 2013
    ..study designs, each powerful to identify susceptibility genes with different underlying genetic models: high-risk pedigree-based shared genomic segment analysis and case- control association analyses...
  31. Animal Model of Genetics and Social Behavior in Autism Spectrum Disorders
    Michael L Platt; Fiscal Year: 2013
    ..linked to social behavior and cognition, by conducting full genome sequencing on 50 key individuals identified by pedigree and social temperament...
  32. Development of a comprehensive model for colorectal cancer risk prediction
    Polly A Newcomb; Fiscal Year: 2013
    ..for the single nucleotide polymorphisms (SNPs) known to be associated with CRC;(ii) provided a multi-generational pedigree and family cancer history which has been validated where possible;and (iii) completed a risk factor questionnaire ..
  33. Presenilin dysfunction in the brain
    Raymond J Kelleher; Fiscal Year: 2013
    ..We recently identified a PS1 mutation (L435F) in an early-onset FAD pedigree with cotton wool plaque neuropathology, and found that this mutation causes a nearly complete loss of ?-secretase ..
  34. Structural and Functional Characterization of a Novel Model for Glaucoma Research
    GILLIAN JANE MCLELLAN; Fiscal Year: 2012
    ..plan to conduct rigorous clinical, functional and morphological characterization of primary glaucoma within this pedigree of cats...
  35. Genetic Basis of Congenital Anophthalmia
    THOMAS M GLASER; Fiscal Year: 2013
    ..We have defined a new locus for autosomal dominant MAC by linkage analysis in a large pedigree. We aim to refine the map position and identify the causative mutation within the nonrecombinant region...
  36. Shared Genomic Segments in Multiplex Families with Gastroschisis
    MARCIA LYNN FELDKAMP; Fiscal Year: 2013
    ..A single extended high-risk pedigree can have the power to identify shared segments...
  37. Genomic Studies in Charcot-Marie-Tooth Disease
    Stephan Zuchner; Fiscal Year: 2013
    ..Institute for Human Genomics, we have recently published the first exome sequencing study of a multigenerational pedigree and the first exome study on CMT and have now published several new genes identified with this method...
  38. Identifying Alzheimer's disease genes using genomic and family data
    ELIZABETH MARCHANI BLUE; Fiscal Year: 2013
    ..number of genomic regions have provided consistent evidence for linkage with LOAD across multiple independent pedigree-based samples, including three regions that we identified in a unique cohort...
  39. High Performance Computing System for Human Genomics
    John Blangero; Fiscal Year: 2010
    ..However, the utilization of extended pedigree information incurs a strong computational price, since family-based data are non-independent and therefore must ..
  40. Identifying Alzheimer's disease genes using genomic and family data
    ELIZABETH MARCHANI BLUE; Fiscal Year: 2012
    ..number of genomic regions have provided consistent evidence for linkage with LOAD across multiple independent pedigree-based samples, including three regions that we identified in a unique cohort...
  41. Molecular Characterization of Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2013
    ..Using a variety of positional cloning strategies, coupled with extensive clinical and pedigree information that we have assembled on over 120 genetically informative consanguineous families and over 200 ..
  42. Development of an SPF Macaca nemestrina Breeding Colony
    Robert J Adams; Fiscal Year: 2013
    ..3) To maintain pedigree and health data on all animals...
  43. 2/2 Genetics of Brain Structure and Function
    David C Glahn; Fiscal Year: 2013
    ..Rare variants appear to be important in mental illness. Pedigree-based studies represent an implicit enrichment strategy for identifying rare variants and a pedigree-specific ..
  44. SIGNALING IN INTESTINAL CANCER
    Leonard H Augenlicht; Fiscal Year: 2010
    ..These pedigrees encompass both classical familial polyposis and attenuated familial polyposis. In each pedigree, the nature of the APC mutation is either already known or can be readily ascertained, and there is continuous ..
  45. Identification of the gene causing spinocerebellar ataxia in a Filipino family
    MICHAEL FARRIS WATERS; Fiscal Year: 2012
    ..We have identified a large Filipino pedigree segregating a dominant trait for cerebellar ataxia with a causative mutation in the voltage-gated potassium ..
  46. Genetic Architecture of the Human Dentognathic Complex
    Richard J Sherwood; Fiscal Year: 2012
    ..A maximum-likelihood variance decomposition method for pedigree data implemented in the software program SOLAR is the analytic platform for the analyses...
  47. 1/2 Genetics of Brain Structure and Function
    John Blangero; Fiscal Year: 2013
    ..Rare variants appear to be important in mental illness. Pedigree-based studies represent an implicit enrichment strategy for identifying rare variants and a pedigree-specific ..
  48. Genomic and Metabolomic Profiling of Finnish Familial Dyslipidemia Families
    Aarno Palotie; Fiscal Year: 2013
    ..Gene expression data to be obtained by RNA sequencing of blood samples from all available pedigree members (estimated to be about 900 individuals) will provide an additional form of evidence to prioritize ..
  49. Systems Approach to Immunity and Inflammation
    Richard J Ulevitch; Fiscal Year: 2013
    ..This group will use knowledge of the mutations present in each pedigree to accelerate the identification of genes identified in these screens...
  50. Genetic &Epidemiologic Predictors of Glucose Homeostasis Measures in Hispanics
    Richard M Watanabe; Fiscal Year: 2013
    ..goals: (1) to perform a GWAS to detect loci underlying variation in glucose homeostasis traits in a multi-cohort pedigree-based set of 4685 Hispanics;(2) to translate/extend these findings to the relevant clinical disease, T2DM, by ..
  51. Quantitative Genetics of Defective IgA1 Glycosylation in IgA Nephropathy
    Krzysztof Kiryluk; Fiscal Year: 2013
    ..Moreover, Krzysztof conducted a whole-genome linkage scan for Gd-IgA1 in a large pedigree with familial IgAN and identified a major susceptibility locus on chromosome 10p14-15 (LOD=4.4)...
  52. Direct tests of the role of stem cells in minimizing mutation accumulation
    Olivier Cinquin; Fiscal Year: 2013
    ..cells minimize the average number of divisions that differentiated cells have gone through (that number is a "pedigree depth") by periodically refreshing a pool of faster-cycling cells with progenitors that have undergone fewer ..
  53. Identification of Autosomal Recessive Nonsyndromic Hearing Impairment Genes
    SUZANNE MARGARET LEAL; Fiscal Year: 2013
    ..We will begin by sequencing a DNA sample from an HI pedigree member from those families which established linkage and then sequence samples from families with suggestive ..
  54. Genomic analysis of bipolar disorder in a genetic isolate
    STEVEN MARC PAUL; Fiscal Year: 2013
    ..step strategy: a) to establish a high-density genotype map for all 450 well-phenotyped family members in the pedigree segregating bipolar disorder using Illumina Omni2...
  55. Architecture and communication controlling the efficient generation of beta cells
    CHRISTOPHER VYVIAN ERIC WRIGHT; Fiscal Year: 2013
    ..The team's pedigree in lineage analysis, cell biology and progenitor control, longevity and strong intra-BCBC interactions, led to ..
  56. Mechanism of streptococcus virulence regulation by bacterial peptide signals
    Muthiah Kumaraswami; Fiscal Year: 2013
    ....
  57. Characterization of a Mendelian Form of Psychosis in a Population Isolate
    Henriette Raventos; Fiscal Year: 2013
    ..comes from an isolated population in a remote location in Costa Rica and there is known consanguinity in the pedigree. Interestingly, there are also indications of immune system involvement in affected members of the family...
  58. INTERNET INTERVENTION FOR BRCA1/BRCA2 UNINFORMATIVES
    Marc D Schwartz; Fiscal Year: 2010
    ..risks for breast and ovarian cancer are heterogeneous and must be estimated based upon an analysis of the family pedigree. Given this complexity, there are currently no standard counseling approaches, risk estimation models, or risk ..
  59. The Molecular Genetics of Pigmentary Glaucoma
    John H Fingert; Fiscal Year: 2010
    ..with three approaches: First, we will use positional cloning to identify the disease-causing gene in a large PDS pedigree. Second, we will genotype large cohorts of PDS patients and controls with genetic markers in search of an ..
  60. Genetics of Metabolic Syndrome in an Island Population
    Ranjan Deka; Fiscal Year: 2009
    ..a whole genome scan using a panel of densely spaced, 10K, SNP markers for linkage analysis;(4) followed by pedigree-based association studies using a 'positional candidate'approach in the regions of significant linkage ..
  61. Elucidating the Effect of Disc 1 on Neurodevelopment and Synaptic Transmission
    Joseph A Gogos; Fiscal Year: 2013
    ..a rare genetic lesion, a balanced chromosomal translocation segregating with SCZ and mood disorders in a large pedigree. We used a disease-focused knock-in approach to introduce a truncating lesion in the murine Disc1 orthologue ..
  62. Genetics of Coronary Artery Disease in Alaska Natives
    Jason G Umans; Fiscal Year: 2011
    ..The complete genome scan of 1,214 members, who are nearly all part of one extended pedigree, will be used to identify quantitative trait loci for subclinical CVD and CVD risk factors and narrow the regions ..
  63. GENETICS OF DELAYED PUBERTY
    LAWRENCE LAYMAN; Fiscal Year: 2001
    ..be to better characterize the phenotype of IHH patients based upon physical exam, endocrinologic studies, and pedigree structure...
  64. Fibrillin 2 and Developmental Genetics of Hip Dysplasia in a Canine Model
    Rory Todhunter; Fiscal Year: 2009
    ..We genotyped a cross breed pedigree of 159 resistant greyhounds and dysplastic Labrador retrievers and we narrowed the original QTL to two at 15...
  65. Genetic Analysis of Idiopathic-Type Curvature in Model Teleosts
    Felix Breden; Fiscal Year: 2009
    ..2) To investigate the complex genetic architecture of idiopathic-type curvature in a comprehensive pedigree of the curveback mutant...
  66. X-LINKED CHARCOT-MARIE TOOTH DISEASE
    Thaddeus Kelly; Fiscal Year: 1990
    ..The results are compared with the pedigree and a blinded clinical evaluation of family members...
  67. HUMAN GENOME ANALYSIS WITH YAC CLONES
    David Schlessinger; Fiscal Year: 1990
    ..Large YAC clones could bridge the gap between pedigree studies and cytogenetics, operating with 2-5 Mb resolution, and conventional recombinant DNA technology, ..
  68. Type 2 Diabetes Gene Discovery Linked to 3p in Hispanics
    Donna Lehman; Fiscal Year: 2009
    ..linkage scan to localize those genes in the San Antonio Family Diabetes/Gallbladder Study (SAFDGS), an extended pedigree study comprised of 39 Mexican Americans families with 906 individuals...
  69. BIOLOGY OF CHROMOSOME 17 LINKED DEMENTIA WITH TAUOPATHY
    Jill Murrell; Fiscal Year: 2000
    ..Abstract): The applicants have recently described a hereditary presenile dementia in a seven generation pedigree. Affected family members presented with symptoms at an average age of 48.8 years (range 39-59)...
  70. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 2003
    ..Finally, using an affected pedigree member approach, we have mapped a locus for non-syndromic cleft lip and palate to 6p23...
  71. APPLYING GENOME MISMATCH SCANNING TO THE HUMAN GENOME
    Patrick Brown; Fiscal Year: 1999
    ..2. Further developing the enzymatic and hybridization steps in the procedure. 3. Developing PCR- based variations on GMS for affected relative pair and linkage disequilibrium mapping in the human genome. ..
  72. IDENTIFICATION & ANALYSES OF THE UROFACIAL SYNDROME GENE
    Jin Xiong She; Fiscal Year: 2001
    ..b>Pedigree analysis has shown that a single gene is responsible for the syndrome...
  73. GENETIC STUDIES OF DEPRESSIVE DISORDERS
    Myrna Weissman; Fiscal Year: 2001
    ..17 potentially informative extended pedigrees from the above groups for genetic linkage studies, obtained pedigree data, and conducted interviews with over 176 family members, and (4) established 96 permanent DNA cell lines, and ..
  74. LINKAGE DISEQUILIBRIUM MAPPING USING THE COALESCENT
    Joseph Felsenstein; Fiscal Year: 2001
    Genetic linkage maps can be created using pedigree methods, in which individuals whose relationships are known can be studied. These allow us to infer the locations in the genome where genetic crossovers occur...
  75. STUTTERING--A LINKAGE ANALYSIS
    Nancy Cox; Fiscal Year: 2006
    ..We have already identified a large pedigree from the Hutterite genealogy, which contains 31 individuals with a history of stuttering, and a full genome scan (..