PaulaCongletonGoldenbergMD

PubMed

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 9 citations
  SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
  Agrawal, P. B., Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Got...> ;Brain. 2023 Apr 19
• 1 citations
  Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
  Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David ...> ;Frontiers in Genetics. 2023 Jan 1
• 8 citations
  Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
  Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gásdal Karstensen, Kwame Anyane-Yeboa, Jun Liao, Nan Jiang, Aliso...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 6 citations
  Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
  Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, A. A. Sharkov, Aneta Kar...> ;Frontiers in Genetics. 2021 May 11
• 1 citations
  Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizu...
  Frances Wu, Paula Goldenberg, Shizuo Mukai> ;Ophthalmic Genetics. 2021 Feb 23
• Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome.
  Krupa R. Patel, Matthew Partain, Daniel P. Ryan, Cheryl Hersh, Paula Goldenberg, Christopher J. Hartnick> ;International Journal of Pediatric Otorhinolaryngology. 2021 Feb 1
• 1 citations
  Pathogenic in-Frame Variants in: Expanding the Genetic Landscape ofAssociated Disease.
  Jennifer C Wong, Kameryn M Butler, Lindsey Shapiro, Jacquelyn T Thelin, Kari A Mattison, Kathryn B Garber, Paula C Goldenberg, Shobana Kubendran, G Bradley Schaefer, A...> ;Frontiers in Pharmacology. 2021 Jan 1
• 15 citations
  A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.
  Amy R. Shikany, Benjamin J. Landis, Ashley Parrott, Erin M. Miller, Lauren Walters, Robert B. Hinton, Paula Goldenberg, Stephanie M. Ware> ;The Journal of Pediatrics. 2020 Jul 25
• 16 citations
  Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.
  Angela E. Lin, Stephanie L. Santoro, Frances A. High, Paula Goldenberg, Iris Gutmark-Little> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020 Mar 1
• 42 citations
  Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
  Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie A. Demmer, P...> ;Annals of Neurology. 2019 Dec 1
• 3 citations
  Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency.
  Max Greenberg, Christen Caloway, Cheryl Hersh, Daniel P. Ryan, Paula Goldenberg, Christopher J. Hartnick> ;International Journal of Pediatric Otorhinolaryngology. 2019 Feb 13
• 17 citations
  Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
  Mark D. Levin, Karen W. Gripp, Tara L. Wenger, Jaya Ganesh, Jennifer M. Kalish, Michael R. Epstein, Rosemarie Smith, Richard J. Czosek, Stephanie M. Ware, Paula Golden...> ;American Journal of Medical Genetics. Part A. 2018 Aug 1
• 47 citations
  An Update on Common Chromosome Microdeletion and Microduplication Syndromes
  Paula Goldenberg> ;Pediatric Annals. 2018 May 1
• 15 citations
  Cerebellar cognitive affective syndrome: insights from Joubert syndrome.
  Chelsea L. Hickey, Janet C. Sherman, Paula Goldenberg, Amy Kritzer, Paul A. Caruso, Jeremy D. Schmahmann, Mary K. Colvin> ;Cerebellum & Ataxias. 2018 Mar 21
• 9 citations
  High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic.
  Paula Goldenberg, Betsy J. Adler, Ashley Parrott, Julia S. Anixt, Karen Mason, Jannel M. Phillips, David S. Cooper, Stephanie M. Ware, Bradley S. Marino> ;Cardiology in the Young. 2017 Apr 1
• 64 citations
  Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency
  Chloé Saunier, Svein Isungset Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Br...> ;Human Mutation. 2016 Aug 1
• 25 citations
  Aortopathy in the 7q11.23 microduplication syndrome
  Ashley Parrott, Jeanne James, Paula Goldenberg, Robert B. Hinton, Erin M. Miller, Amy R. Shikany, Arthur S. Aylsworth, Kathleen Kaiser-Rogers, Sunita J. Ferns, Seema R...> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
• 6 citations
  Dilated cardiomyopathy in a 32-year-old woman with Russell–Silver syndrome
  Thomas J. Ryan, Anita Gupta, Divya Gupta, Paula Goldenberg, Michael D. Taylor, Angela Lorts, John L. Jefferies> ;Cardiovascular Pathology. 2014 Jan 1
• 33 citations
  Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis
  Paula Goldenberg, Monica E. Calkins, Jan Richard, Donna M. McDonald-McGinn, Elaine H. Zackai, Nandita Mitra, Beverly S. Emanuel, Marcella Devoto, Karin E. Borgmann-Win...> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2012 Jan 1
• 363 citations
  Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
  Anne S. Bassett, Donna M. McDonald-McGinn, Koenraad Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Sólveig Óskarsdóttir, Nicole Philip,...> ;The Journal of Pediatrics. 2011 Aug 1
• 276 citations
  Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
  Priya S. Kishnani, Paula Goldenberg, Stephanie L. Dearmey, James H. Heller, Daniel K. Benjamin, Sarah P. Young, Deeksha Bali, Sue Ann Smith, Jennifer S. Li, Hanna Mand...> ;Molecular Genetics and Metabolism. 2010 Jan 1
• 7 citations
  Evidence-based medicine and practice guidelines: application to genetics.
  Helga V. Toriello, Paula Goldenberg> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2009 Aug 15
• 8 citations
  Clinical experience with array CGH: case presentations from nine months of practice.
  Alexis F. Poss, Paula Goldenberg, Catherine Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, Marie T. McDonald> ;American Journal of Medical Genetics. Part A. 2006 Oct 1
• 3 citations
  Chronic hepatitis C infection in a rural Medicaid HMO.
  James F. Calvert, Paula Goldenberg, Cathy Schock> ;The Journal of Rural Health. 2005 Jan 1
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Journal Articles

• Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy Patients  
  Karen W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A