Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.

Autor: Bejma, Taylor A., Beidler, Willa S., VanSickle, Elizabeth A., Prokop, Jeremy W., Brown, Wendy T., Scheurer‐Monaghan, Andrea, Rossetti, Linda Z.

Publikováno v: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-6, 6p

A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.

Autor: Martin, Elizabeth, VanSickle, Elizabeth A., Rossetti, Linda Z.

Publikováno v: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-7, 7p

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Autor: Rossetti, Linda Z.¹ (AUTHOR), Bekheirnia, Mir Reza¹ (AUTHOR), Lewis, Andrea M.¹ (AUTHOR), Mefford, Heather C.² (AUTHOR), Golden‐Grant, Katie² (AUTHOR), Tarczy‐Hornoch, Kristina³ (AUTHOR), Briere, Lauren C.⁴ (AUTHOR), Sweetser, David A.⁴ (AUTHOR), Walker, Melissa A.⁵ (AUTHOR), Kravets, Elijah⁶ (AUTHOR), Stevenson, David A.⁶ (AUTHOR), Bruenner, Georgette⁷ (AUTHOR), Sebastian, Jessica⁸ (AUTHOR), Knapo, Julia⁸ (AUTHOR), Rosenfeld, Jill A.¹ (AUTHOR), Marcogliese, Paul C.^1,9 (AUTHOR), Wangler, Michael F.^1,9 (AUTHOR) michael.wangler@bcm.edu

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2021, Vol. 9 Issue 1, p1-7. 7p.

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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Autor: Mark, Paul R., Murray, Stephen A., Tao Yang, Eby, Alexandra, Lai, Angela, Di Lu, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A., Rossetti, Linda Z., Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S., Bupp, Caleb P., Prokop, Jeremy W.

Publikováno v: Cold Spring Harbor Molecular Case Studies; Oct2022, Vol. 8 Issue 6, p1-15, 16p