NaomiJ.L.(Lohr)MeeksMD

PubMed

• 2 citations
  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, Ashlyn Anderson, Muhammad Ansar, Stylianos E Antonarakis, Azadeh Aza...> ;American Journal of Human Genetics. 2023 Feb 2
• 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> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 2 citations
  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, Christine M Pak, Kathleen E Wallace, Adam H Buchanan, Ann Katherine M Forema...> ;Genetics in Medicine. 2022 Jun 1
• 10 citations
  Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie H...> ;American Journal of Medical Genetics. Part A. 2021 Aug 26
• 7 citations
  Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
  Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine J. Chu, Chin Lin, Elizabeth A. Geiger, Naomi Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Urvashi Surti, P...> ;Genetics. 2021 Mar 31
• 13 citations
  Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
  Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Na...> ;HGG Advances. 2021 Jan 14
• 1 citations
  A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
  Erin Finn, Kimberly A. Kripps, Christina D. Chambers, Michele Rapp, Naomi Meeks, Fang Xu, Wuyan Chen, Austin Larson, Natalie J. Nokoff> ;Journal of Investigative Medicine High Impact Case Reports. 2021 May 8
• 2 citations
  Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
  Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
• 23 citations
  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, C. G. Asteggiano, Michael J. Bamshad, Eileen Barr, Jonathan A. Bernstein, Shabeed Chela...> ;Journal of Inherited Metabolic Disease. 2020 Jul 18
• 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 M. Dietz, Arthur S. Aylsworth, Ellen R. Elias, Julie Hoover-Fong, Naomi Meeks, Marg...> ;Autism Research. 2020 Jul 1
• 35 citations
  Automated syndrome diagnosis by three-dimensional facial imaging.
  Benedikt Hallgrímsson, J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan, Brenda McInnes, Tracey M. Ferrara, Danika M. Lipman, Ama...> ;Genetics in Medicine. 2020 Jun 1
• 13 citations
  A clinically validated whole genome pipeline for structural variant detection and analysis.
  Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon, Tzipora C. Falik-Zaccai, Alexander Kaplun> ;BMC Genomics. 2019 Jul 16
• 5 citations
  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 Hoover-Fong, Naomi Meeks, Margaret C. Souders, Anne C.-H. Tsai, Elaine H. Zackai, Aimee Alex...> ;Journal of Autism and Developmental Disorders. 2019 May 1
• 39 citations
  The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
  Curtis R. Coughlin, Michael A. Swanson, Elaine B. Spector, Naomi Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D.M. van Karnebeek, Sidney M. Gos...> ;Journal of Inherited Metabolic Disease. 2018 Jul 24
• 106 citations
  Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
  Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorsky, Francesca Roman...> ;American Journal of Human Genetics. 2018 Feb 1
• 11 citations
  De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)
  Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle C...> ;American Journal of Human Genetics. 2018 Jan 4
• De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
  Jennifer E Posey, Vinodh Narayanan, James R Lupski, LaDonna Immken, Naomi Meeks> ;Cell Press. 2017 Nov 04
• 3 citations
  Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.
  Mariam Ahmad, Meghan Hermanson, Robert W. Enzenauer, Alan G. Palestine, Clara Lin, Naomi Meeks, Emily A. McCourt> ;Journal of AAPOS. 2017 Jun 1
• 14 citations
  Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.
  Heather Mason-Suares, Diana M. Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E. Mullen, Matthew S. Lebo> ;European Journal of Human Genetics. 2017 Jan 18
• Erratum: A2.78-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 Genomic Medicine. 2017 Jan 1
• 2 citations
  A2.78-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 Genomic Medicine. 2016 Jan 1
• 82 citations
  The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
  Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine ...> ;Genetics in Medicine. 2017 Jan 1
• 11 citations
  Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
  Christopher A. Tan, Scott Topper, Daniela del Gaudio, Viswateja Nelakuditi, O. Shchelochkov, Małgorzata J.M. Nowaczyk, Susan Zeesman, L. Brady, L. Russell, N. Meeks, S...> ;Clinical Genetics. 2016 Apr 1
• 9 citations
  Genetic causes of pituitary hormone deficiencies.
  Austin Larson, Natalie J. Nokoff, Naomi Meeks> ;Discovery Medicine. 2015 Mar 1
• 16 citations
  Metabolic and monogenic causes of seizures in neonates and young infants.
  Johan L.K. Van Hove, Naomi J. Lohr> ;Molecular Genetics and Metabolism. 2011 Nov 1
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Journal Articles

• Two cases of androgen insensitivity due to somatic mosaicisim.  
  Nokoff NJ, Travers S, Meeks N, AIMS Genetics, 3/2015