ArticleGenes2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Keri Ramsey, Supraja Prakash, Jennifer Kerkhof, Bekim Sadikovic, Susan White, Marcus Naymik, Jennifer Sloan, Anna Bonfitto, Newell Belnap, Meredith Sanchez-Castillo and 5 more
Abstract readCase Reports
In one paragraphArticle in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
15 authors.
Keri RamseyCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Supraja PrakashPhoenix Children's Hospital, Phoenix, AZ 85016, USA.
Jennifer KerkhofVerspeeten Clinical Genome Center, London Health Sciences Center, London, ON N6A 5W9, Canada.ORCID 0000-0003-1245-6606 Bekim SadikovicVerspeeten Clinical Genome Center, London Health Sciences Center, London, ON N6A 5W9, Canada.
Susan WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Marcus NaymikCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Jennifer SloanCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Anna BonfittoCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Newell BelnapCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0009-0003-8868-5891 Meredith Sanchez-CastilloCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Wayne JepsenCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0002-3020-6005 Matthew HuentelmanCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0001-7390-9918 Vinodh NarayananCenter for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0002-0658-3847 Funding
Translational Genomics Research Institute Institutional funds
6 · The paper itselfAbstract
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Indexed as
Developmental DisabilitiesEpigenesis, GeneticIntellectual DisabilityDNA MethylationGenetic TestingHumansMalePhenotypeRepressor ProteinsPHF6 protein, humanRepressor ProteinsBFLSDNA methylationEpigeneticsgenome sequencingintellectual disabilityVUS clarificationWHIKERS
Identifiers
PMID40869981
PMCPMC12385824
What OpenQuestion holds
Textmetadata
LicenceCC BY
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