LynneA.WolfeNP

PubMed

• 43 citations
  SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
  Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian H.Y. Chung,...> ;Human Mutation. 2019 Jul 1
• 2 citations
  Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation
  Sarah B. Mulkey, Bobby G. Ng, Gilbert Vezina, Dorothy I. Bulas, Lynne A. Wolfe, Hudson H. Freeze, Carlos Ferreira> ;Pediatric Neurology. 2019 May 1
• 51 citations
  Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
  Amanda H. Kahn-Kirby, Akiko Amagata, Celine I. Maeder, Janet J. Mei, Steve Sideris, Yuko Kosaka, Andrew W. Hinman, Stephanie Malone, Joel J. Bruegger, Leslie Wang, Vir...> ;Plos One. 2019 Mar 28
• 6 citations
  Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
  Mariska Davids, Thomas C. Markello, Lynne A. Wolfe, Xenia Chepa-Lotrea, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan> ;Human Mutation. 2019 Jan 1
• 7 citations
  Glycomics in rare diseases: from diagnosis tomechanism.
  Mariska Davids, Megan S. Kane, Lynne A. Wolfe, Camilo Toro, Cynthia J. Tifft, David H. Adams, Xueli Li, Mohd A. Raihan, Miao He, William A. Gahl, Cornelius F. Boerkoel...> ;Translational Research. 2019 Apr 1
• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
  William A Gahl, Rizwan Hamid, Kimiyo M Raymond, Angela L Duker, Luis Rohena, Lynne A Wolfe, Dawn Earl, Michael B Bober, George E Tiller, Cynthia J Tifft> ;Cell Press.
• 35 citations
  De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
  Mari Tokita, Chun-An Chen, David Chitayat, Ellen Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester W. Brown, Ronit Marom, Yunru Shao, Danica Nov...> ;American Journal of Human Genetics. 2018 Jul 5
• A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
  Toro, C.,Hori, R. T.,Malicdan, MCV.,Tifft, C. J.,Goldstein, A.,Gahl, W. A.,Adams, D. R.,Fauni, H. B.,Wolfe, L. A.,Xiao, J.,Khan, M. M.,Tian, J.,Hope, K. A.,Reiter, L. ...> ;Hum. Mol. Genet.. 2018 Feb 16
• A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
  Toro, C.,Hori, R. T.,Malicdan, MCV.,Tifft, C. J.,Goldstein, A.,Gahl, W. A.,Adams, D. R.,Harper, F.,Wolfe, L. A.,Xiao, J.,Khan, M. M.,Tian, J.,Hope, K. A.,Reiter, L. T....> ;Hum. Mol. Genet.. 2018 Jan 05
• 1 citations
  Response to Newman et al.
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Oct 26
• 180 citations
  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Jul 27
• 78 citations
  A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
  Hsiao-Tuan Chao, Mariska Davids, Elizabeth A. Burke, John Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne A. Wolfe, Camilo Toro, Cynthia J. Tifft,...> ;American Journal of Human Genetics. 2017 Jan 5
• 93 citations
  Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
  Christina Lam, Carlos Ferreira, Donna M. Krasnewich, Camilo Toro, Lea Latham, Wadih M. Zein, Tanya J. Lehky, Carmen C. Brewer, Eva H. Baker, Audrey Thurm, Cristan Farm...> ;Genetics in Medicine. 2017 Feb 1
• 69 citations
  Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
  William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David W. Draper, Elise D. Flynn, Marta Girdea, Rena A. Godfrey, Gretchen Golas, Cath...> ;Genetics in Medicine. 2016 Jun 1
• 22 citations
  Congenital disorders of glycosylation and intellectual disability.
  Lynne A. Wolfe, Donna M. Krasnewich> ;Developmental Disabilities Research Reviews. 2013 Jun 1
• 8 citations
  Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
  Lynne A. Wolfe, Eva Morava, Miao He, Jerry Vockley, K. Michael Gibson> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2012 Nov 15
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