SamuelWBakerMD

PubMed

• 15 citations
  Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
  Samuel W. Baker, Kelly A. Duffy, Jennifer Richards-Yutz, Matthew A. Deardorff, Jennifer M. Kalish, Arupa Ganguly> ;Journal of Medical Genetics. 2021 Mar 1
• 2 citations
  Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
  Elizabeth J. Bhoj, Farrah Rajabi, Samuel W. Baker, Avni Santani, Wen-Hann Tan> ;European Journal of Medical Genetics. 2020 Mar 10
• 27 citations
  De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
  Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia M. Maas, Hester Y. Kroes, Augusta M. A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, ...> ;American Journal of Human Genetics. 2019 Aug 1
• 25 citations
  Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver
  Minal Çalışkan, Elisabetta Manduchi, H. Shanker Rao, Julian A. Segert, Marcia Holsbach Beltrame, Marco Trizzino, YoSon Park, Samuel W. Baker, Alessandra Chesi, Matthew...> ;American Journal of Human Genetics. 2019 Jul 3
• 11 citations
  Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
  Chao Wu, Batsal Devkota, Perry Evans, Xiaonan Zhao, Samuel W. Baker, Rojeen Niazi, Kajia Cao, Michael A. Gonzalez, Pushkala Jayaraman, Laura K. Conlin, Bryan L. Krock,...> ;European Journal of Human Genetics. 2019 Jan 9
• 52 citations
  Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
  Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha...> ;The Journal of Molecular Diagnostics. 2019 Jan 1
• 21 citations
  Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
  Alyssa Ritter, Carey McDougall, Cara M. Skraban, Livija Medne, Emma Bedoukian, Stephanie B. Asher, Jorune Balciuniene, Colleen D. Campbell, Samuel W. Baker, Elizabeth ...> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 22 citations
  MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
  Thomas Smol, Florence Petit, Amélie Piton, Boris Keren, Damien Sanlaville, Alexandra Afenjar, Samuel W. Baker, Emma Bedoukian, Elizabeth J. Bhoj, Dominique Bonneau, El...> ;Neurogenetics. 2018 Mar 6
• 26 citations
  Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.
  Mary Ellen Vajravelu, Jinghua Chai, Bryan L. Krock, Samuel W. Baker, David R. Langdon, Craig A. Alter, Diva D. De León> ;The Journal of Clinical Endocrinology and Metabolism. 2018 Mar 1
• 49 citations
  Host Genetic Variation Influences Gene Expression Response to Rhinovirus Infection
  Minal Çalışkan, Samuel W. Baker, Yoav Gilad, Carole Ober> ;Plos Genetics. 2015 Apr 13
• 9 citations
  Systematic mapping of occluded genes by cell fusion reveals prevalence and stability of cis-mediated silencing in somatic cells
  Timothy J. Looney, Li Zhang, Chih Hsin Chen, Jae Hyun Lee, Sheila Chari, Frank Fuxiang Mao, Mattia Pelizzola, Lu Zhang, Ryan Lister, Samuel W. Baker, Croydon J. Fernan...> ;Genome Research. 2014 Feb 1
• 8 citations
  Evidence for a critical role of gene occlusion in cell fate restriction
  Jedidiah Gaetz, Kayla L. Clift, Croydon J. Fernandes, Frank Fuxiang Mao, Jae Hyun Lee, Li Zhang, Samuel W. Baker, Timothy J. Looney, Kara Foshay, Weihua Yu, Andy Peng ...> ;Cell Research. 2012 May 1
• 46 citations
  Embryonic stem cells induce pluripotency in somatic cell fusion through biphasic reprogramming.
  Kara Foshay, Timothy J. Looney, Sheila Chari, Frank Fuxiang Mao, Jae Hyun Lee, Li Zhang, Croydon J. Fernandes, Samuel W. Baker, Kayla L. Clift, Jedidiah Gaetz, Chun-Gu...> ;Molecular Cell. 2012 Apr 27
• It's not OK.
  Samuel W. Baker> ;Academic Medicine. 2009 Dec 1
• 418 citations
  An interferon-related gene signature for DNA damage resistance is a predictive marker for chemotherapy and radiation for breast cancer
  Ralph R. Weichselbaum, Hemant Ishwaran, Taewon Yoon, Dimitry S.A. Nuyten, Samuel W. Baker, Nikolai N. Khodarev, Andy W. Su, Arif Shaikh, Paul Roach, Bas Kreike, Bernar...> ;Proceedings of the National Academy of Sciences of the United States of America. 2008 Nov 25
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