Jennifer J Johnston

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
  2. pmc Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
    Tanya M Bardakjian
    Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
    BMC Med Genet 10:137. 2009
  3. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
  4. pmc Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Hum Mutat 31:1142-54. 2010
  5. ncbi request reprint Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 123:236-42. 2003
  6. ncbi request reprint Gonadal mosaicism in severe Pallister-Hall syndrome
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 124:296-302. 2004
  7. doi request reprint Using exome data to identify malignant hyperthermia susceptibility mutations
    Stephen G Gonsalves
    Research Associate, Clinical Specialty Consultant, Staff Scientist, Branch Chief, Genetic Disease Research Branch, Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, Maryland Research Associate, Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health Current position Assistant Member, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix
    Anesthesiology 119:1043-53. 2013
  8. pmc The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 90:295-300. 2012
  9. pmc A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    Marjorie J Lindhurst
    National Human Genome Research Institute, Bethesda, Maryland, USA
    N Engl J Med 365:611-9. 2011
  10. pmc Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 91:97-108. 2012

Detail Information

Publications23

  1. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
    ..The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems...
  2. pmc Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
    Tanya M Bardakjian
    Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
    BMC Med Genet 10:137. 2009
    ..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome...
  3. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  4. pmc Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Hum Mutat 31:1142-54. 2010
    ..Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria...
  5. ncbi request reprint Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 123:236-42. 2003
    ..We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes...
  6. ncbi request reprint Gonadal mosaicism in severe Pallister-Hall syndrome
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 124:296-302. 2004
    ..Published 2003 Wiley-Liss, Inc...
  7. doi request reprint Using exome data to identify malignant hyperthermia susceptibility mutations
    Stephen G Gonsalves
    Research Associate, Clinical Specialty Consultant, Staff Scientist, Branch Chief, Genetic Disease Research Branch, Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, Maryland Research Associate, Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health Current position Assistant Member, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix
    Anesthesiology 119:1043-53. 2013
    ..An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes...
  8. pmc The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 90:295-300. 2012
    ..We conclude that c.1234C>T in PIGA results in the lethal X-linked phenotype recognized in the reported family...
  9. pmc A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    Marjorie J Lindhurst
    National Human Genome Research Institute, Bethesda, Maryland, USA
    N Engl J Med 365:611-9. 2011
    ..The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state...
  10. pmc Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 91:97-108. 2012
    ....
  11. pmc Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting
    Jamie K Teer
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Genomics 14:253. 2013
    ..It is important to understand the advantages, limitations, and complexity of a given capture method before embarking on a targeted sequencing experiment...
  12. pmc Interpreting secondary cardiac disease variants in an exome cohort
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Circ Cardiovasc Genet 6:337-46. 2013
    ..We have piloted a method to analyze exomes to identify participants at risk for cardiac arrhythmias, cardiomyopathies, or sudden death...
  13. pmc Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
    Hakan Ulucan
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Med Genet 9:92. 2008
    ..The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance...
  14. pmc Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity
    Julie C Sapp
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 12:623-7. 2010
    ..The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome...
  15. pmc Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 86:743-8. 2010
    ..We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations...
  16. doi request reprint Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome
    Danielle D Brinckman
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 161:2964-71. 2013
    ..We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction...
  17. pmc Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
    Penelope P Feuillan
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Clin Endocrinol Metab 96:E528-35. 2011
    ..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls...
  18. doi request reprint Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 164:120-8. 2014
    ..All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism. © 2013 Wiley Periodicals, Inc. ..
  19. pmc Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Hum Mutat 34:1242-9. 2013
    ..We present the clinical findings in the patient, comparison of this patient to other patients with ACTB/ACTG1 mutations, and results from actin functional studies that demonstrate novel functional attributes of this mutant protein. ..
  20. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
    ....
  21. ncbi request reprint Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
    Emma N Hilton
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 16:1773-82. 2007
    ..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development...
  22. pmc Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
    Jennifer J Johnston
    J Med Genet 44:e59. 2007
    ..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
  23. ncbi request reprint The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
    Ruth M Liberfarb
    Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genet Med 5:21-7. 2003
    ....