Publications by authors named "Elizabeth Werren"

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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Elizabeth A Werren, Louisa Kalsner, Jessica M Ewald, Michael Peracchio, Cameron King

Am J Med Genet A· June 2025

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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Elizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J Patil

Brain· December 2024

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava

Cell Death Dis· May 2024

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A variant in detected in an individual with Knobloch type 2 syndrome.
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King

bioRxiv· April 2024

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li

Nat Commun· February 2024

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A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Elizabeth A Werren, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Akanksha Pandey, Saurabh Vaish

Am J Med Genet A· September 2023

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Mechanisms of mRNA processing defects in inherited intellectual disability syndrome.
Elizabeth Werren, Geneva LaForce, Anshika Srivastava, Delia Perillo, Katherine Johnson

Res Sq· September 2023

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variants in in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Elizabeth A Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal

HGG Adv· July 2023

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Identifying adaptive alleles in the human genome: from selection mapping to functional validation.
Elizabeth A Werren, Obed Garcia, Abigail W Bigham

Hum Genet· February 2021

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Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation.
Heather L Norton, Melissa Edwards, S Krithika, Monique Johnson, Elizabeth A Werren

Am J Phys Anthropol· August 2016

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The rs387907171 SNP in TYRP1 is not associated with blond hair color on the Island of Bougainville.
Heather L Norton, Megan Hanna, Elizabeth Werren, Jonathan Friedlaender

Am J Hum Biol· May 2016

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MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.
Heather L Norton, Elizabeth Werren, Jonathan Friedlaender

BMC Genet· October 2015

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