Publications by authors named "Timothy Blake Palculict"

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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies.
Michelle M Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Timothy Blake Palculict

HGG Adv· July 2025

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Timothy Blake Palculict

Am J Hum Genet· June 2024

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Timothy Blake Palculict

Am J Hum Genet· April 2024

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Human mutations in implicated in GABAergic synapse development in mice.
Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Timothy Blake Palculict

Front Mol Neurosci· March 2024

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Timothy Blake Palculict

Brain· December 2023

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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Timothy Blake Palculict

Pediatr Neurol· November 2023

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Timothy Blake Palculict

Acta Neuropathol· August 2023

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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Gregory Costain, Chantal F Morel, Lauren Massingham, Timothy Blake Palculict

Genet Med· July 2023

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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Timothy Blake Palculict

Am J Med Genet A· May 2023

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Timothy Blake Palculict

Am J Hum Genet· March 2023

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Timothy Blake Palculict

Am J Hum Genet· January 2023

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Timothy Blake Palculict

Genet Med· September 2022

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De novo variants in encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Timothy Blake Palculict

J Med Genet· March 2021

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, Steffen Uebe, Mary-Alice Abbott, Timothy Blake Palculict

Orphanet J Rare Dis· March 2021

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Timothy Blake Palculict

J Inherit Metab Dis· November 2020

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Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.
Timothy Blake Palculict, E Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong

J Med Genet· June 2016

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