Publications by authors named "Andrew H Crosby"

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Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Andrew H Crosby

Am J Med Genet A· December 2025

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Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
James Fasham, Julia Rankin, Rachel Schot, Susan M White, Katrina M Bell, Andrew H Crosby

Am J Hum Genet· December 2025

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Membrane curvature elastic stress triggers recruitment of PML-II onto the inner nuclear membrane.
Michael McPhee, Jayme Salsman, Allison A Newman, Nikol Voutsina, Andrew H Crosby

Mol Biol Cell· December 2025

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Response to Haliloğlu et al.
Lettie E Rawlins, Stuart J Cannon, Bilal Ahmad Mian, Farhan Bahadar Ali, Shahnaz Ibrahim, Andrew H Crosby

Genet Med· October 2025

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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Zain Dardas, Laura Harrold, Daniel G Calame, Claire G Salter, Takashi Kikuma, Andrew H Crosby

Am J Hum Genet· May 2025

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mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.
Laura Mantoan Ritter, Nicholas M P Annear, Emma L Baple, Leila Y Ben-Chaabane, Istvan Bodi, Andrew H Crosby

Orphanet J Rare Dis· May 2025

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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Lettie E Rawlins, Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Andrew H Crosby

Genet Med· February 2025

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Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Asif Naveed Ahmed, Lettie E Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Andrew H Crosby

BMC Neurol· October 2024

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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Andrew H Crosby

BMC Neurol· September 2024

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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Francesco Saettini, Fabiola Guerra, Mario Mauri, Claire G Salter, Margaret P Adam, Andrew H Crosby

J Clin Immunol· September 2024

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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Andrew H Crosby

BMC Ophthalmol· August 2024

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TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, James Fasham, Maysa Alawneh, Andrew H Crosby

Am J Med Genet A· July 2024

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Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).
Ilaria D'Atri, Emily-Rose Martin, Liming Yang, Elizabeth Sears, Emma Baple, Andrew H Crosby

Neurosci Lett· May 2024

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Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder.
Joan Sala-Gaston, Eva M Pérez-Villegas, José A Armengol, Lettie E Rawlins, Emma L Baple, Andrew H Crosby

Cell Death Discov· April 2024

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Andrew H Crosby

Brain· November 2023

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Andrew H Crosby

Brain· November 2023

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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.
Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Andrew H Crosby

BMC Ophthalmol· May 2023

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Joseph S Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A Bearce, Laura Dyer, Andrew H Crosby

Genet Med· November 2022

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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Reham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, Lauren E Blizzard, Joseph S Leslie, Andrew H Crosby

Am J Hum Genet· November 2022

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HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
Joan Sala-Gaston, Leonardo Pedrazza, Juanma Ramirez, Arturo Martinez-Martinez, Lettie E Rawlins, Andrew H Crosby

Cell Mol Life Sci· October 2022

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Andrew H Crosby

Brain· September 2022

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
Yan Ma, Xun Wang, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Andrew H Crosby

Front Genet· March 2022

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