Benjamin D Solomon

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Evidence for inheritance in patients with VACTERL association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA
    Hum Genet 127:731-3. 2010
  2. pmc Analysis of component findings in 79 patients diagnosed with VACTERL association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Med Genet A 152:2236-44. 2010
  3. pmc Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
    Benjamin D Solomon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Med Genet 47:513-24. 2010
  4. pmc Clinical genomic database
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:9851-5. 2013
  5. pmc Clinical geneticists' views of VACTERL/VATER association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Am J Med Genet A 158:3087-100. 2012
  6. pmc Incidental medical information in whole-exome sequencing
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatrics 129:e1605-11. 2012
  7. pmc VACTERL/VATER Association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35 Room 1B 207, Bethesda, MD 20892, USA
    Orphanet J Rare Dis 6:56. 2011
  8. pmc Personalized genomic medicine: lessons from the exome
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 104:189-91. 2011
  9. pmc De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Birth Defects Res A Clin Mol Teratol 91:862-5. 2011
  10. pmc Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 3717, USA
    Congenit Anom (Kyoto) 51:87-91. 2011

Collaborators

Detail Information

Publications35

  1. pmc Evidence for inheritance in patients with VACTERL association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA
    Hum Genet 127:731-3. 2010
    ..The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies...
  2. pmc Analysis of component findings in 79 patients diagnosed with VACTERL association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Med Genet A 152:2236-44. 2010
    ..These findings have implications for both our understanding of VACTERL association and for the approach to research involving this condition...
  3. pmc Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
    Benjamin D Solomon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Med Genet 47:513-24. 2010
    ..Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE...
  4. pmc Clinical genomic database
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:9851-5. 2013
    ..Further content-based expert opinions are actively solicited. Eventually, the CGD may assist the rapid curation of individual genomes as part of active medical care...
  5. pmc Clinical geneticists' views of VACTERL/VATER association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Am J Med Genet A 158:3087-100. 2012
    ....
  6. pmc Incidental medical information in whole-exome sequencing
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatrics 129:e1605-11. 2012
    ....
  7. pmc VACTERL/VATER Association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35 Room 1B 207, Bethesda, MD 20892, USA
    Orphanet J Rare Dis 6:56. 2011
    ..Importantly, patients with VACTERL association do not tend to have neurocognitive impairment...
  8. pmc Personalized genomic medicine: lessons from the exome
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 104:189-91. 2011
    ....
  9. pmc De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Birth Defects Res A Clin Mol Teratol 91:862-5. 2011
    ..The causes of this condition are thought to be heterogeneous but are overall not well understood...
  10. pmc Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 3717, USA
    Congenit Anom (Kyoto) 51:87-91. 2011
    ..There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations...
  11. doi request reprint Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2
    Nilrat Wannasilp
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 155:860-4. 2011
    ..This is the first time that multiple HPE-associated variants in these genes have been reported in one family, and raises important questions about how clinicians and researchers should view the inheritance of conditions such as HPE...
  12. doi request reprint Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, NationalInstitutes of Health, Bethesda, MD, USA
    J Med Genet 49:473-9. 2012
    ..The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences...
  13. pmc Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
    Nneamaka B Agochukwu
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892 3717, United States
    Eur J Med Genet 54:323-8. 2011
    ....
  14. pmc A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum
    Daniel E Pineda-Alvarez
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA
    Am J Med Genet A 155:2713-20. 2011
    ..These findings contribute to the understanding of the phenotypic variability of the HPE spectrum, and highlight findings in one medically important but often incompletely investigated system...
  15. pmc Long-term outcomes of adults with features of VACTERL association
    Manu S Raam
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892 3717, USA
    Eur J Med Genet 54:34-41. 2011
    ....
  16. pmc The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
    Erich Roessler
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Hum Mutat 30:E921-35. 2009
    ....
  17. pmc Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
    Daniel E Pineda-Alvarez
    Medical Genetics Branch, National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Hum Genet 131:301-10. 2012
    ..Here, we demonstrate that sequence variants in GAS1 can impair its physical interaction with SHH, suggesting a decrease in the SHH downstream signaling cascade as a pathogenic mechanism of disease...
  18. pmc VACTERL association and mitochondrial dysfunction
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA solomonb mail nih gov
    Birth Defects Res A Clin Mol Teratol 91:192-4. 2011
    ..Although clinical signs and symptoms consistent with possible mitochondrial disease are not uncommon in patients with VACTERL association, the necessary testing to confirm mitochondrial dysfunction is infrequently performed...
  19. pmc Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients
    Kshitij Srivastava
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 106:241-3. 2012
    ..On the basis of our study, we conclude that mutations in the coding region of NOG are rare, and play at most an uncommon role in human HPE...
  20. pmc Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly
    Emily F Kauvar
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 102:470-80. 2011
    ..Surprisingly, minimal evidence for alterations of TWSG1 was found, suggesting that sequence alterations of TWSG1 are neither a common direct cause nor a frequent modifying factor for human HPE pathologies...
  21. pmc Analysis of genotype-phenotype correlations in human holoprosencephaly
    Benjamin D Solomon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Med Genet C Semin Med Genet 154:133-41. 2010
    ....
  22. doi request reprint Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis
    Nneamaka B Agochukwu
    Clinical Research Training Program, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Neurol 47:355-61. 2012
    ..Furthermore, the impact of Muenke syndrome on the central nervous system may be greater than previously thought...
  23. ncbi request reprint When to suspect a genetic syndrome
    Benjamin D Solomon
    National Human Genome Research Institute, Bethesda, MD 20892 3717, USA
    Am Fam Physician 86:826-33. 2012
    ..Genetic subspecialists can assist family physicians in diagnosis, suggest additional testing and referrals if warranted, help direct medical care, and provide counseling for affected patients and their families...
  24. pmc A common genetic network underlies substance use disorders and disruptive or externalizing disorders
    Mauricio Arcos-Burgos
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Hum Genet 131:917-29. 2012
    ..In summary, we provide compiled evidence of complex networks of genotypes underlying a wide phenotype that involves SUD and externalizing disorders...
  25. pmc Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
    Emily F Kauvar
    Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Am J Med Genet C Semin Med Genet 154:158-69. 2010
    ..Further research is required to better elucidate the causal and pathogenic basis of this association...
  26. ncbi request reprint Holoprosencephaly: a guide to diagnosis and clinical management
    Manu S Raam
    HHMI NIH Research Scholars Program, Howard Hughes Medical Institute, Chevy Chase, MD, United States
    Indian Pediatr 48:457-66. 2011
    ..Given the increasing relative contribution of genetic diseases to perinatal morbidity and mortality in India, proper recognition and management of holoprosencephaly can improve care for a significant number of affected Indian children...
  27. pmc Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism
    Nneamaka B Agochukwu
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 161:453-60. 2013
    ..The most common articulation involved in all syndromic craniosynostoses associated with FGFR mutations is the calcaneocuboid articulation...
  28. doi request reprint Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature
    Sophia M Bous
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3717, USA
    Clin Dysmorphol 21:183-90. 2012
    ..Although these visceral anomalies may not be essential for the identification of HPS, clinicians should be aware of the presence of such characteristics in these patients to optimize management and help establish etiologies...
  29. doi request reprint Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
    Nneamaka B Agochukwu
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B 207, Bethesda, MD 20892, USA
    Childs Nerv Syst 28:1447-63. 2012
    ..The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses...
  30. doi request reprint Analysis of cardiac anomalies in VACTERL association
    Bridget K Cunningham
    Department of Pediatrics, Walter Reed National Military Medical Center Bethesda, Maryland Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Birth Defects Res A Clin Mol Teratol 97:792-7. 2013
    ..Controversy still remains regarding the definition of VATER association and its expansion to VACTERL, the appropriate diagnostic criteria and the overall incidence...
  31. pmc Holoprosencephaly due to numeric chromosome abnormalities
    Benjamin D Solomon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Med Genet C Semin Med Genet 154:146-8. 2010
    ..Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE...
  32. pmc Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 152:1545-9. 2010
    ..Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work-up of this patient clearly demonstrates the evolution of genetic testing techniques...
  33. pmc Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis)
    Nneamaka Barbara Agochukwu
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    J Craniofac Surg 23:664-8. 2012
    ..However, high-arched palate in Muenke syndrome is common and may warrant clinical attention, as these individuals are more susceptible to recurrent chronic otitis media with effusion, dental malocclusion, and hearing loss...
  34. doi request reprint Holoprosencephaly flashcards: A summary for the clinician
    Benjamin D Solomon
    National Human Genome Research Institute, USA
    Am J Med Genet C Semin Med Genet 154:3-7. 2010
    ..This material contains general information regarding the approach to patients with holoprosencephaly. For more detailed discussion, please refer to specific articles in this issue...
  35. pmc Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
    Benjamin D Solomon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 149:2543-6. 2009
    ..Clinical evaluation of the propositus and his parents demonstrated the effects of mutations of differing severity in multiple individuals...