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Daniah Beleford

University of California, San Francisco

12

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27

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Application of full-genome analysis to diagnose rare monogenic disorders.

2021 npj Genomic Medicine
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Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

2021 npj Genomic Medicine
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The YAP/TAZ antagonist, PTPN14, stabilizes SMAD4 through direct interactions in endothelial cells: Implications for Hereditary Hemorrhagic Telangiectasia

2021 bioRxiv
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A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.

2020 European Journal of Medical Genetics
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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

2020 bioRxiv
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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

2019 American Journal of Medical Genetics Part A
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

2019 American Journal of Medical Genetics Part A
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Schimke immunoosseous dysplasia and management considerations for vascular risks

2019 American Journal of Medical Genetics Part A
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X‐linked duplication copy number variation in a familial overgrowth condition

2019 American Journal of Medical Genetics Part C-seminars in Medical Genetics
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PATH-07. FAMILIAL MELANOMA-ASTROCYTOMA SYNDROME: SYNCHRONOUS DIFFUSE ASTROCYTOMA AND PLEOMORPHIC XANTHOASTROCYTOMA IN A PATIENT WITH GERMLINE CDKN2A/B DELETION AND A SIGNIFICANT FAMILY HISTORY

2017 Neuro-oncology
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