ElizabethRoederMD

PubMed

• Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a...
  P J van der Sluijs, S A Vergano, E R Roeder, M C J Jongmans, G W E Santen> ;European Journal of Medical Genetics. 2023 Feb 1
• 4 citations
  Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
  Min Ni, Lauren Friedrich, Chunxiao Pan, Hieu Sy Vu, Jimin Pei, Bookyung Ko, Ling Cai, Ashley Solmonson, Chendong Yang, Kimberly M. Nugent, Nick V. Grishin, Chao Xing, ...> ;Journal of Inherited Metabolic Disease. 2021 Apr 14
• 19 citations
  Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
  Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N. Shinde, Katherine L. Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renie...> ;Brain. 2020 Dec 1
• 23 citations
  Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
  Nurit Assia Batzir, Pranjali K Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, ...> ;Human Mutation. 2020 Mar 1
• 4 citations
  Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
  Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Me...> ;Genetics in Medicine. 2020 Mar 1
• 3 citations
  De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
  Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D. Lichtenbelt, Koen L.I....> ;American Journal of Medical Genetics. Part A. 2020 Feb 7
• 20 citations
  The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
  Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Me...> ;Genetics in Medicine. 2020 Feb 1
• 2 citations
  Correction: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments w...
  Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Jo...> ;Genome Medicine. 2019 Mar 25
• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similari...
  Vetrini, F.,McKee, S.,Rosenfeld, J. A.,Suri, M.,Lewis, A. M.,Nugent, K. M.,Roeder, E.,Littlejohn, R. O.,Holder, S.,Zhu, W.,Alaimo, J. T.,Graham, B.,Harris, J. M.,Gibso...> ;Genome Med. 2019 Mar 02
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
• 13 citations
  LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
  Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A. Karolak, Lauren Currie, Sandhya Parkash, Stephen G. Kahler, Elizabeth Roeder, Rebecca O. Littlejohn, Thom...> ;Human Mutation. 2018 Dec 1
• 116 citations
  Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
  Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkma...> ;Genetics in Medicine. 2018 Feb 22
• 18 citations
  Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
  Li Chen, Philip J. Jensik, Joseph T. Alaimo, Magdalena Walkiewicz, Seth I. Berger, Elizabeth Roeder, Eissa Faqeih, Jonathan A. Bernstein, Ann C.M. Smith, Sureni V. Mul...> ;Human Mutation. 2017 Sep 23
• 45 citations
  Identification of novel candidate disease genes from de novo exonic copy number variants
  Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren De...> ;Genome Medicine. 2017 Sep 21
• 5 citations
  Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, a...
  Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komar...> ;Human Genetics. 2017 Aug 1
• 45 citations
  Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2017 Apr 6
• 25 citations
  Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2...
  Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephen Sanders, Andrea Lehmann,...> ;American Journal of Human Genetics. 2017 Apr 6
• 12 citations
  Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphi...
  Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komar...> ;Human Genetics. 2017 Apr 1
• De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
  Elizabeth Roeder, Kimberly M Nugent, James R Lupski, Carlos A Bacino, Stephanie Sacharow> ;Cell Press. 2017 Jan 31
• 60 citations
  Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2017 Jan 5
• 31 citations
  Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
  Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Lévesque, Marie Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon Sattler, M...> ;Human Mutation. 2016 Aug 1
• 72 citations
  Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Human Genetics. 2016 Apr 12
• 58 citations
  NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
  Vincenzo A. Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, ...> ;Elife. 2015 Aug 27
• 8 citations
  A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple frac...
  Marta Smyk, Elizabeth Roeder, Sau Wai Cheung, Przemyslaw Szafranski, Pawel Stankiewicz> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
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