TheresaAGrebeMD

PubMed

• 3 citations
  Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
  Robert G Best, George Khushf, Sara Schonfeld Rabin-Havt, Ellen Wright Clayton, Theresa A Grebe, Jill Hagenkord, Scott Topper, Jaime Fivecoat, Margaret Chen, Wayne W Grody> ;Genetics in Medicine. 2022 Mar 1
• 11 citations
  Expanded phenotype of AARS1-related white matter disease.
  Guy Helman, Marisa I. Mendes, Francesco Nicita, Lama Darbelli, Omar Sherbini, Travis Moore, Alexa Derksen, Amy Pizzino, Rosalba Carrozzo, Alessandra Torraco, Michela C...> ;Genetics in Medicine. 2021 Aug 27
• 19 citations
  TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine ...> ;American Journal of Human Genetics. 2021 Sep 2
• 16 citations
  Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Science Advances. 2021 May 1
• 1 citations
  Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature
  Luís F. Gonçalves, Aparna Ramasubramanian, Theresa A. Grebe, Monique Riemann, Dawn Moncrief, Patricia Cornejo> ;Clinical Imaging. 2021 Mar 20
• 1 citations
  A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
  Beate Peter, Nancy J. Scherer, Winnie S. Liang, Stephen Pophal, Colby Nielsen, Theresa A. Grebe> ;American Journal of Medical Genetics. Part A. 2021 Feb 11
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 7 citations
  An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
  Megan H. Hawley, Naif A.M. Almontashiri, Leslie G. Biesecker, Natalie Berger, Wendy K. Chung, John Garcia, Theresa A. Grebe, Melissa A. Kelly, Matthew S. Lebo, Daniela...> ;Human Mutation. 2020 Jun 24
• 22 citations
  The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
  Theresa A. Grebe, George Khushf, Margaret Chen, Dawn Bailey, Leslie Manace Brenman, Marc S. Williams, Laurie H. Seaver> ;Genetics in Medicine. 2020 Jun 1
• 34 citations
  De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
  Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A C Goos, Olajumoke O. Popoola, Maria Jesus Ortiz-Ruiz, Tina Barbaro-Dieber, Lucy ...> ;American Journal of Human Genetics. 2019 Apr 4
• 11 citations
  Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice
  Milka Pringsheim, Diana Mitter, Simone Schröder, Rita Warthemann, Kim Sarah Plümacher, Gerhard Kluger, Martina Baethmann, Thomas Bast, Sarah Braun, Hans-Martin Büttel,...> ;Annals of Clinical and Translational Neurology. 2019 Mar 3
• 17 citations
  De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmo...
  Ganka Douglas, Megan T. Cho, Aida Telegrafi, Susan Winter, Jason Carmichael, Elaine H. Zackai, Matthew A. Deardorff, Margaret Harr, Linford Williams, Apostolos Psychog...> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 62 citations
  FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
  Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans Martin Bütt...> ;Genetics in Medicine. 2018 Jan 1
• 30 citations
  Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
  Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover-Fong, Aida Telegrafi, Anne Destree, Rober...> ;Plos Genetics. 2017 Mar 27
• 50 citations
  The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
  Madelyn A. Gillentine, Leandra N. Berry, Robin P. Goin-Kochel, May Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Vickie L. Hannig, Patricia I. Bader, Monica Proud, ...> ;Journal of Autism and Developmental Disorders. 2017 Mar 1
• 9 citations
  An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
  H.K. Aintablian, Vinodh Narayanan, Newell Belnap, Keri E. Ramsey, Theresa A. Grebe> ;Molecular Genetics and Metabolism Reports. 2017 Mar 1
• 1 citations
  Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
  Madelyn A. Gillentine, Leandra N. Berry, Robin P. Goin-Kochel, May Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Vickie L. Hannig, Patricia I. Bader, Monica Proud, ...> ;Journal of Autism and Developmental Disorders. 2017 Feb 6
• 63 citations
  WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
  Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Lad...> ;Human Mutation. 2017 Jan 1
• 12 citations
  Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
  Brian Appavu, Natalie Guido-Estrada, Kristin Lindstrom, Theresa A. Grebe, John F. Kerrigan, Matthew M. Troester> ;Epileptic Disorders. 2016 Sep 1
• 81 citations
  Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
  Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey...> ;American Journal of Human Genetics. 2016 May 5
• 25 citations
  Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
  Mohan Narayanan, Keri Ramsey, Theresa A. Grebe, Isabelle Schrauwen, Szabolcs Szelinger, Matthew J. Huentelman, David Craig, Vinodh Narayanan> ;F1000research. 2015 Sep 28
• 11 citations
  Chronic pain in Noonan syndrome: A previously unreported but common symptom
  Sravanthi Vegunta, Richard Cotugno, Amber Williamson, Theresa A. Grebe> ;American Journal of Medical Genetics. Part A. 2015 Dec 1
• 53 citations
  Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
  Neil Kulkarni, Sha Tang, Ratan D. Bhardwaj, Saunder Bernes, Theresa A. Grebe> ;Journal of Child Neurology. 2016 Feb 1
• 51 citations
  Prevalence of Autism Spectrum Disorders in Hispanic and Non-Hispanic White Children
  Anita L. Pedersen, Sydney Pettygrove, F. John Meaney, Kristen Clancy Mancilla, Kathy Gotschall, Daniel B. Kessler, Theresa A. Grebe, Christopher Cunniff> ;Pediatrics. 2012 Mar 1
• 321 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• Join now to see all

Journal Articles

• De Novo Missense Variants in MEIS2 Recapitulate the Microdeletion Phenotype of Cardiac and Palate Abnormalities, Developmental Delay, Intellectual Disability and Dysmo...  
  Theresa Grebe, Susan Winter, Elaine H Zackai, Angelika L Erwin, Matthew A Deardorff, Margaret Harr, American Journal of Medical Genetics Part A