RebeccaAhrens-NicklasMD

PubMed

• Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
  Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, Eric Mallack, Rebecca Ahrens-Nicklas, John A Bernat, Annette Bley, Barbara Burton, Alejandra Darling, Florian Eich...> ;Cytotherapy. 2024 Apr 1
• Lmod2 is necessary for effective skeletal muscle contraction.
  Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper, Christopher T Pappas, Carol C Gregorio> ;Science Advances. 2024 Mar 15
• KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
  Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, Thomas Roule, Brianna L Disanza, Gregory G Cajka, Sunyimeng Lei, Alyssa L Gagne, Jean Ann Maguire, Ophir Shalem...> ;Cell Stem Cell. 2024 Mar 7
• NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
  Kelly J Clark, Emily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, Dana E Layo-Carris, Emily L Durham, Rebecca C Ahrens-Nicklas, Tomoki T Nomakuchi, Elizabeth J Bhoj> ;Biorxiv. 2024 Feb 4
• A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
  Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, Jean Ann Maguire, Alyssa L Gagne, Elisa A Waxman, Deborah L French, Kaitlyn King, Zitao Zhou, Michael H Gelb, Parith...> ;Molecular Genetics and Metabolism. 2024 Feb 1
• 2 citations
  Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
  Dominique L Brooks, Madelynn N Whittaker, Ping Qu, Kiran Musunuru, Rebecca C Ahrens-Nicklas> ;American Journal of Human Genetics. 2023 Dec 7
• Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
  Julia Keisling, Emma Bedoukian, Danielle S Burstein, J William Gaynor, Christopher Gray, Ian Krantz, Kosuke Izumi, Jacqueline Leonard, Kimberly Y Lin, Livija Medne, Ch...> ;The Journal of Pediatrics. 2024 Feb 1
• 1 citations
  A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant.
  Dominique L Brooks, Madelynn N Whittaker, Hooda Said, Garima Dwivedi, Ping Qu, Kiran Musunuru, Rebecca C Ahrens-Nicklas, Mohamad-Gabriel Alameh> ;HGG Advances. 2024 Jan 11
• Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.
  Parith Wongkittichote, Edward B Cook, Francis Jeshira Reynoso Santos, Rebecca C Ahrens-Nicklas, Xinying Hong, Rebecca D Ganetzky> ;The Journal of Applied Laboratory Medicine. 2024 Mar 1
• 1 citations
  Biochemical signatures of disease severity in multiple sulfatase deficiency.
  Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R Pillai, Paul J Orch...> ;Journal of Inherited Metabolic Disease. 2024 Mar 1
• Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.
  Priyanka Anvekar, Paul Stephens Jr, Renzo J C Calderon-Anyosa, Hunter L Kauffman, Danielle S Burstein, Alyssa L Ritter, Rebecca C Ahrens-Nicklas, Victoria L Vetter, An...> ;Pediatric Cardiology. 2023 Sep 19
• 4 citations
  High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.
  Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, Brianna Disanza, Gregory G Cajka, Sunyimeng Lei, Alyssa Gagne, Jean Ann Maguire, Thomas Roule, Ophir Shalem, El...> ;Biorxiv. 2023 Jun 26
• 5 citations
  Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.
  Dominique L Brooks, Manuel J Carrasco, Ping Qu, William H Peranteau, Rebecca C Ahrens-Nicklas, Kiran Musunuru, Mohamad-Gabriel Alameh, Xiao Wang> ;Nature Communications. 2023 Jun 10
• 3 citations
  Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
  Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa Gagne, Zackary M Herbst, Jean A ...> ;EMBO Molecular Medicine. 2023 Mar 8
• 5 citations
  Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
  Stephen J Staklinski, Mario C Chang, Rebecca C Ahrens-Nicklas, Shagun Kaur, Arianna K Stefanatos, Elizabeth E Dudenhausen, Matthew E Merritt, Michael S Kilberg> ;JIMD Reports. 2023 Mar 1
• Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1.
  Kirsten E Craddock, Jillian L McKee, Mark Fitzgerald, Rebecca Ahrens-Nicklas, Sonika Agarwal> ;Pediatric Neurology. 2023 May 1
• 8 citations
  Consolidation of the clinical and genetic definition of arelated neurodevelopmental syndrome.
  Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolch...> ;Journal of Medical Genetics. 2022 Nov 1
• Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.
  Rose Guo, Frank D Mentch, Dong Li, Erin E Will, Rebecca C Ahrens-Nicklas, Elizabeth J Bhoj> ;The Journal of Pediatrics. 2022 Sep 1
• 5 citations
  MYH7 variants cause complex congenital heart disease.
  Alyssa Ritter, Jacqueline Leonard, Christopher Gray, Kosuke Izumi, Katharine Levinson, Divya R Nair, Matthew O'Connor, Joseph Rossano, Venkat Shankar, Jessica Chowns, ...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• Noonan syndrome associated with hypoplastic left heart syndrome.
  Kendall M Lawrence, Danielle S Burstein, Rebecca Ahrens-Nicklas, J William Gaynor, Muhammad A Nuri> ;Cardiology in the Young. 2023 Apr 1
• 4 citations
  Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
  Rebecca C Ahrens-Nicklas, Luis Tecedor, Arron F Hall, Owen Kane, Richard J Chung, Elena Lysenko, Eric D Marsh, Colleen S Stein, Beverly L Davidson> ;Molecular Therapy. 2022 Jul 6
• 4 citations
  Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
  Katherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, Erin Y Chen, Jessica R C Priestley, Lydia S Williams, Sneha A Rangu, Christina M Wright, Priyanka Adusumall...> ;Pediatrics. 2022 Jul 1
• Heal thyself: The promise of autologous hematopoietic stem cell gene therapy in neurometabolic disorders.
  Rebecca C Ahrens-Nicklas> ;Molecular Therapy. 2022 Apr 6
• 12 citations
  Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
  Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M Engelhardt, James C DiPerna, Brenda DiBoscio, Rebecca C Ahr...> ;International Journal of Neonatal Screening. 2022 Mar 23
• Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
  Hana Alharbi, Xinying Hong, Alyssa Ritter, Rebecca Ahrens-Nicklas, Stephen R Master, Miao He> ;Clinical Chemistry. 2022 Feb 1
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