Blake C Ballif


Ontology type: schema:Person     


Person Info

NAME

Blake C

SURNAME

Ballif

Publications in SciGraph latest 50 shown

  • 2018-11-13 Standards and guidelines for canine clinical genetic testing laboratories in HUMAN GENETICS
  • 2014-09 Corrigendum: A copy number variation morbidity map of developmental delay in NATURE GENETICS
  • 2013-05 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways in NEUROGENETICS
  • 2013 The Use of Cytogenetic Microarrays in Myelodysplastic Syndrome Characterization in ARRAY COMPARATIVE GENOMIC HYBRIDIZATION
  • 2012-11 Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis in GENETICS IN MEDICINE
  • 2012-07 Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-02 Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases in NEUROGENETICS
  • 2012-01 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 in HUMAN GENETICS
  • 2011-12 Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis in MOLECULAR CYTOGENETICS
  • 2011-12 Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis in MOLECULAR CYTOGENETICS
  • 2011-11 Response to the letter by Collins and Schimke in GENETICS IN MEDICINE
  • 2011-09 A copy number variation morbidity map of developmental delay in NATURE GENETICS
  • 2011-06 Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia in LEUKEMIA
  • 2011-05 Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH in MOLECULAR CYTOGENETICS
  • 2010-12 Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes in MOLECULAR CYTOGENETICS
  • 2010-11 Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders in GENETICS IN MEDICINE
  • 2010-11 Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-10 Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity in GENETICS IN MEDICINE
  • 2010-09 A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk in NATURE GENETICS
  • 2010-04 Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE in HUMAN GENETICS
  • 2010-03 Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2010-03 A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay in NATURE GENETICS
  • 2010-02-08 The Use of Microarray Technology for Cytogenetics in MICROARRAY METHODS FOR DRUG DISCOVERY
  • 2009-12 Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report in MOLECULAR CYTOGENETICS
  • 2009-11 Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations in GENETICS IN MEDICINE
  • 2009-05 Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH in GENETICS IN MEDICINE
  • 2008-12 Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication in MOLECULAR CYTOGENETICS
  • 2007-09 Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 in NATURE GENETICS
  • 2007-09 The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome in GENETICS IN MEDICINE
  • 2007-03 Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH in GENETICS IN MEDICINE
  • 2006-12 Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-11 Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations in HUMAN GENETICS
  • 2006-09-01 Comparative Genomic Hybridization by Microarray for the Detection of Cytogenetic Imbalance in CARDIOVASCULAR DISEASE, VOLUME 1: GENETICS
  • 2006 Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions in GENOMIC DISORDERS
  • 2006 Comparative Genomic Hybridization by Microarray for the Detection of Cytogenetic Imbalance in CARDIOVASCULAR DISEASE
  • 2005-05 Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-02 Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-03 Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions in CHROMOSOME RESEARCH
  • 2004-01 Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements in HUMAN GENETICS
  • 2000-10 FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-04 Selenium regulates expression in rat liver of genes for proteins involved in iron metabolism in BIOLOGICAL TRACE ELEMENT RESEARCH
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