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Author Details

Benjamin D Solomon
2007
149
38
PMIDPaper TitleJournal TitlePublished Year
37046134Age-related survey of clinical genetics literature and related resources.2023
37218641The future of commercial genetic testing.2023
36484420Perspectives on the future of dysmorphology.Am J Med Genet A2023
37246194Analysis of large-language model versus human performance for genetics questions.2023
36863700Whither social media and clinical genetics?2023
34633139Can artificial intelligence save medical genetics?American Journal of Medical Genetics, Part A2022
35612590Scoping review and classification of deep learning in medical genetics.Genetics in Medicine2022
35480315Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes.Frontiers in Genetics2022
35047844Neural network classifiers for images of genetic conditions with cutaneous manifestations.Human Genetics and Genomics Advances2022
34828275Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in and Associated Phenotypes.Genes2021
33590649Evolving technologies in medical genetics and genomics.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2021
33846581Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.Genet Med2021
34302146Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.Nat Genet2021
34789511Should all babies have their genome sequenced at birth?BMJ2021
30635658Mother-child histocompatibility and risk of rheumatoid arthritis and systemic lupus erythematosus among mothers.Genes Immun2020
32010779Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.Science advances2020
32700360Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.Am J Med Genet A2020
32814065The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature.Am J Hum Genet2020
32519470Going forward in a new world.Am J Med Genet A2020
32511629The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature.medRxiv2020
32511434A systematic review of antibody mediated immunity to coronaviruses: antibody kinetics, correlates of protection, and association of antibody responses with severity of disease.medRxiv2020
32619490Management of Secondary Genomic Findings.Am J Hum Genet2020
33116284Strategic vision for improving human health at The Forefront of Genomics.Nature2020
33108101Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease.N Engl J Med2020
32943637A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity.Nat Commun2020
30824819Response to Wang et al.Genet Med2019
30604180Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.Familial Cancer2019
30563985Response to Evans et al.Genet Med2019
29795440Response to ten Broeke et al.Genet Med2019
30919572Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.Am J Med Genet A2019
30833390Genomic and molecular characterization of preterm birth.Proc Natl Acad Sci U S A2019
29368431Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Molecular genetics &amp; genomic medicine2018
30556325Cancer genetics program: Follow-up on clinical genetics and genomic medicine in Qatar.Molecular genetics &amp; genomic medicine2018
30264509Clinical genetics and genomic medicine in Qatar.Mol Genet Genomic Med2018
30167906Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.Annals of Surgical Oncology2018
30063092Early inspirations from times gone by.Am J Med Genet A2018
30152190Phenotypic diversity of patients diagnosed with VACTERL association.American Journal of Medical Genetics, Part A2018
30580478The etiology of VACTERL association: Current knowledge and hypotheses.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2018
30291356Author Correction: Parent-of-origin-specific signatures of de novo mutations.Nat Genet2018
30290151A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.Am J Hum Genet2018
30289605Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.American Journal of Medical Genetics, Part A2018
29992659Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.Hum Mutat2018
30182444Holoprosencephaly flashcards: An updated summary for the clinician.Am J Med Genet C Semin Med Genet2018
30182443Introduction.Am J Med Genet C Semin Med Genet2018
30322717Germline pathogenic variants identified in women with ovarian tumors.Gynecologic Oncology2018
29345684MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Genet Med2018
29749690Holoprosencephaly: A clinical genomics perspective.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2018
29433747Clinical, Social, and Genetic Factors Associated with Obesity at 12 Months of Age.Journal of Pediatrics2018
29507425Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.Nat Genet2018
28135139Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.Journal of Clinical Oncology2017
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National Human Genome Research Institute, The National Institutes of Health
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University of Florida
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Radboud University Medical Center
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Boston Children's Hospital, Harvard Medical School
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Institute for Systems Biology
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Institute for Systems Biology
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Cincinnati Children's Hospital Medical Center
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National Human Genome Research Institute, National Institutes of Health
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University of Pittsburgh
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