Search Results - "Bivona, Stephanie"

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.

Authors: Furuta, Yutaka Ezell, Kimberly M. Hamid, Rizwan et al.

Source: Molecular Genetics & Genomic Medicine. Dec2025, Vol. 13 Issue 12, p1-8. 8p.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Authors: Borja, Nicholas Bivona, Stephanie Peart, Lé Shon et al.

Source: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-9. 9p.

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Authors: Dohrn, Maike F. Bademci, Guney Rebelo, Adriana P. et al.

Source: Annals of Clinical & Translational Neurology. Apr2024, Vol. 11 Issue 4, p1075-1079. 5p.

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.

Authors: Cooperstein, Isabelle B. Marwaha, Shruti Ward, Alistair et al.

Source: Genome Medicine. 10/21/2025, Vol. 17 Issue 1, p1-20. 20p.

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Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss.

Authors: Bernardi, Maria T. Ramzan, Memoona Calderon, Laura et al.

Source: Advanced Genetics. Dec2024, Vol. 5 Issue 4, p1-5. 5p.

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Authors: Tan, Queenie K.‐G. McConkie‐Rosell, Allyn Mahoney, Rachel et al.

Source: American Journal of Medical Genetics. Part A; Apr2025, Vol. 197 Issue 4, p1-13, 13p

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Authors: Borja, Nicholas A. Tinker, Rory J. Bivona, Stephanie A. et al.

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

Authors: Forghani, Irman Lang, Steven H. Rodier, Matthew J. et al.

Source: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-9, 9p

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Authors: Borja, Nicholas Borjas‐Mendoza, Paulo Bivona, Stephanie et al.

Source: American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1911-1916, 6p

Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

Authors: Peart, Lé Shon Gonzalez, Joanna Bivona, Stephanie et al.

Source: American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1307-1310, 4p