Publications by authors named "Sam Loughlin"

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Sam Loughlin

Genet Med· January 2025

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Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Sam Loughlin

medRxiv· February 2024

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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Satyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, Daniël A Lionarons, Mark Harland, Sam Loughlin

Genet Med· September 2021

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Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.
Tariq Al Shehri, Kimberly Gilmour, Florian Gothe, Sam Loughlin, Shahnaz Bibi

J Clin Immunol· November 2019

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons.
Alexandre Bolze, Bertrand Boisson, Barbara Bosch, Alexander Antipenko, Matthieu Bouaziz, Sam Loughlin

Proc Natl Acad Sci U S A· August 2018

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Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Veronica A Kinsler, Anna C Thomas, Miho Ishida, Neil W Bulstrode, Sam Loughlin

J Invest Dermatol· September 2013

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End-stage renal failure associated with congenital deafness.
Nicholas M P Annear, Daniel P Gale, Sam Loughlin, Huw R Dorkins, Patrick H Maxwell

NDT Plus· June 2008

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Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.
Catherine Mercer, Rodney Gilbert, Sam Loughlin, Nicola Foulds

Clin Dysmorphol· October 2006

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