Publications by authors named "Naomi Meeks"

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The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.
Chen-Han Wilfred Wu, Ishita Patel, Katreya Lovrenert, Brian Eisner, Naomi Meeks

Genet Med· January 2025

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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Rodrigo T Starosta, Austin A Larson, Naomi J L Meeks, Sara Gracie, Marisa W Friederich

Mitochondrion· November 2024

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Naomi Meeks

Nat Commun· September 2024

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Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Christine M Pak, Marian J Gilmore, Joanna E Bulkley, Pranesh Chakraborty, Orit Dagan-Rosenfeld, Naomi Meeks

Genet Med· August 2024

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Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Molly M Crenshaw, Mariana L Meyers, Kathleen Brown, Valerie Slegesky, Jessica Duis, Naomi J L Meeks

Am J Med Genet A· October 2023

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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Chen-Han Wilfred Wu, Jad Badreddine, Joshua Chang, Yu-Ren Mike Huang, Fernando J Kim, Naomi Meeks

Urolithiasis· August 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Naomi J L Meeks

Am J Hum Genet· February 2023

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A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.
Emily Shelkowitz, Christine M Chan, Tonya Jones, Stephanie J Nakano, Naomi J L Meeks

Am J Med Genet A· July 2022

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ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Jessica Ezzell Hunter, Charisma L Jenkins, Joanna E Bulkley, Marian J Gilmore, Kristy Lee, Naomi J L Meeks

Genet Med· June 2022

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J Guillen Sacoto, Francisca Milan Zamora, Naomi Meeks

Am J Med Genet A· November 2021

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A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
Erin Finn, Kimberly Kripps, Christina Chambers, Michele Rapp, Naomi J L Meeks

J Investig Med High Impact Case Rep· October 2021

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Naomi J L Meeks

Genet Med· February 2021

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Yulia Mostovoy, Feyza Yilmaz, Stephen K Chow, Catherine Chu, Chin Lin, Naomi J L Meeks

Genetics· February 2021

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Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
Adam W Hansen, Payal Arora, Michael M Khayat, Leah J Smith, Andrea M Lewis, Naomi Meeks

HGG Adv· January 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, Naomi J L Meeks

J Inherit Metab Dis· November 2020

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Automated syndrome diagnosis by three-dimensional facial imaging.
Benedikt Hallgrímsson, J David Aponte, David C Katz, Jordan J Bannister, Sheri L Riccardi, Naomi J L Meeks

Genet Med· October 2020

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Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Lin H Tian, Lisa D Wiggins, Laura A Schieve, Marshalyn Yeargin-Allsopp, Patricia Dietz, Naomi J L Meeks

Autism Res· July 2020

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A clinically validated whole genome pipeline for structural variant detection and analysis.
Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon

BMC Genomics· July 2019

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A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
Stuart K Shapira, Lin H Tian, Arthur S Aylsworth, Ellen R Elias, Julie E Hoover-Fong, Naomi J L Meeks

J Autism Dev Disord· May 2019

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Curtis R Coughlin, Michael A Swanson, Elaine Spector, Naomi J L Meeks, Kathryn E Kronquist

J Inherit Metab Dis· March 2019

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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Naomi Meeks

Am J Hum Genet· February 2018

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Naomi Meeks

Am J Hum Genet· January 2018

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Naomi Meeks

Am J Hum Genet· November 2017

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Erratum: A 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.
James D Weisfeld-Adams, Amanda K Tkachuk, Kenneth N Maclean, Naomi L Meeks, Stuart A Scott

NPJ Genom Med· August 2017

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Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.
Mariam Ahmad, Meghan E Hermanson, Robert Enzenauer, Alan Palestine, Clara Lin, Naomi Meeks

J AAPOS· June 2017

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