Lisa G Shaffer

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Lisa G



Publications in SciGraph latest 50 shown

  • 2018-11-13 Standards and guidelines for canine clinical genetic testing laboratories in HUMAN GENETICS
  • 2015-02 6q22.1 microdeletion and susceptibility to pediatric epilepsy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-12 Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability in NATURE GENETICS
  • 2014-12 Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2) in JOURNAL OF HUMAN GENETICS
  • 2014-01 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 Neuropathology of brain and spinal malformations in a case of monosomy 1p36 in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2013-06 Estimates of penetrance for recurrent pathogenic copy-number variations in GENETICS IN MEDICINE
  • 2013-05 Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate in HUMAN GENETICS
  • 2013-05 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways in NEUROGENETICS
  • 2013-04 Response to Benn in GENETICS IN MEDICINE
  • 2013 Human Chromosome Nomenclature: An Overview and Definition of Terms in THE PRINCIPLES OF CLINICAL CYTOGENETICS
  • 2013 Microarray-Based Cytogenetics in THE PRINCIPLES OF CLINICAL CYTOGENETICS
  • 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
  • 2012-10 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A in GENETICS IN MEDICINE
  • 2012-07 Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-05 NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype in GENETICS IN MEDICINE
  • 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
  • 2012 Microarrays, Postnatal Analysis, and Implications for Growth Monitoring in HANDBOOK OF GROWTH AND GROWTH MONITORING IN HEALTH AND DISEASE
  • 2011-12 Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis in MOLECULAR CYTOGENETICS
  • 2011-12 Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 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
  • 2011-10 Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems 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
  • 2010-09 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 Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories in GENETICS IN MEDICINE
  • 2009-12 Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report in MOLECULAR CYTOGENETICS
  • 2009-12 Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: 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
  • 2009-06 Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements in HUMAN GENETICS
  • 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 A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics in MOLECULAR CYTOGENETICS
  • 2008-12 Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication in MOLECULAR CYTOGENETICS
  • 2008-12 Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region in BMC GENOMICS
  • 2008 Prenatal Diagnosis Using Array CGH in PRENATAL DIAGNOSIS
  • 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
  • 2007-09 Microarray analysis for constitutional cytogenetic abnormalities in GENETICS IN MEDICINE
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