PimSuwannaratMD

PubMed

• 7 citations
  Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
  Bergithe E Oftedal, Kristian Assing, Safa Baris, Stephanie L Safgren, Isik S Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W Kl...> ;Iscience. 2023 Jun 16
• 2 citations
  Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
  Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Pal...> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 18 citations
  Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
  Thuy-Linh Le, Louise Galmiche, Jonathan Levy, Pim Suwannarat, Debby M.E.I. Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom E. J. Theunissen, Mathilde Lefebvre,...> ;The Journal of Clinical Investigation. 2021 Mar 15
• 1 citations
  Screening and Preventative Strategies for Patients at High Risk for Breast Cancer.
  Monica Ter-Minassian, Marcy L. Schaeffer, Celeena R. Jefferson, Stacey C. Shapiro, Pim Suwannarat, Kala Visvanathan> ;JCO Oncology Practice. 2021 Jan 11
• 13 citations
  Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente.
  M. Cabell Jonas, Pim Suwannarat, Andrea N. Burnett-Hartman, Nikki M. Carroll, Michelle Turner, Kristen Janes, Christine Truong, Erica Blum-Barnett, Nazneen Aziz, Eliza...> ;Journal of Personalized Medicine. 2019 Nov 1
• 67 citations
  Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
  Neil J. Ingham, Selina Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Fe...> ;Plos Biology. 2019 Apr 11
• 175 citations
  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
  Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej Poplawski, Alicia Gomes, Piotr Madanecki, Chuanhua Fu, Michael R. Crowley, David K. Crossman, Linlea Armstrong, Dus...> ;Nature Genetics. 2014 Feb 1
• 21 citations
  Epigenetics of depression.
  Sermsak Lolak, Pim Suwannarat, Robert H. Lipsky> ;Progress in Molecular Biology and Translational Science. 2014 Jan 1
• 48 citations
  The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
  Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christi...> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
• 24 citations
  Aortic Stenosis and Vascular Calcifications in Alkaptonuria
  Hwaida Hannoush, Wendy J. Introne, Marcus Y. Chen, Sook-Jin Lee, Kevin O'Brien, Pim Suwannarat, Michael A. Kayser, William A. Gahl, Vandana Sachdev> ;Molecular Genetics and Metabolism. 2012 Feb 1
• 123 citations
  A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
  Wendy J. Introne, Monique B. Perry, James Troendle, Ekaterini Tsilou, Michael A. Kayser, Pim Suwannarat, Kevin O’Brien, Joy Bryant, Vandana Sachdev, James C. Reynolds,...> ;Molecular Genetics and Metabolism. 2011 Aug 1
• 48 citations
  Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
  Thierry Vilboux, Michael A. Kayser, Wendy J. Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O’Brien, Robert Kleta, Marjan Huizing, William A. Gahl> ;Human Mutation. 2009 Dec 1
• 1 citations
  A Novel Mutation of Cystathionine β-synthase Gene in a Thai Boy With Homocystinuria
  Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Werasak Sasanakul, Ampaiwan Chuansumrit> ;Journal of Pediatric Hematology/oncology. 2009 Oct 1
• 2 citations
  Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).
  Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Supranee Thongpradit> ;Journal of Dermatological Science. 2008 Jan 1
• 27 citations
  Musculoskeletal findings and disability in alkaptonuria.
  Monique B. Perry, Pim Suwannarat, Gloria P. Furst, William A. Gahl, Lynn H. Gerber> ;The Journal of Rheumatology. 2006 Nov 1
• 4 citations
  Disorders of free sialic acid.
  Pim Suwannarat> ;Molecular Genetics and Metabolism. 2005 Jun 1
• 104 citations
  Use of nitisinone in patients with alkaptonuria
  Pim Suwannarat, Kevin O’Brien, Monique B. Perry, Nancy G. Sebring, Isa Bernardini, Muriel I. Kaiser-Kupfer, Benjamin I. Rubin, E.T. Tsilou, Lynn H. Gerber, William A. ...> ;Metabolism. 2005 Jun 1
• 31 citations
  Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome
  Wafika Zarzour, Robert Kleta, Haydar Frangoul, Pim Suwannarat, Anna Jeong, Su Young Kim, Alan S. Wayne, Meral Gunay-Aygun, James G. White, Alexandra H. Filipovich, Wil...> ;Molecular Genetics and Metabolism. 2005 Jun 1
• 6 citations
  Blue pigmentation and arthritis in an elderly man.
  Michelle L. Spenny, Pim Suwannarat, William A. Gahl, Edward W. Cowen> ;Journal of the American Academy of Dermatology. 2005 Jan 1
• 19 citations
  Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
  Pim Suwannarat, Chanika Phornphutkul, Isa Bernardini, Maria L. Turner, William A. Gahl> ;Arthritis and Rheumatism. 2004 Nov 1
• Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
  Keeratichamroen, S., Cairns, J. R., Wattanasirichaigoon, D., Wasant, P., Ngiwsara, L., Suwannarat, P., Pangkanon, S., Kuptanon, J., Tanpaiboon, P., Rujirawat, T., Liam...> ;J Inherit Metab Dis. 2008 Dec
• Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
  Suwannarat, P., Keeratichamroen, S., Wattanasirichaigoon, D., Ngiwsara, L., Cairns, J. R., Svasti, J., Visudtibhan, A., Pangkanon, S.> ;Blood Cells Mol Dis. 2007 Nov 01
• Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.
  Wong, L. J., Lin, Y. H., Suwannarat, P., Hsu, C. H., Kwon, H. Y., Mackowiak, S.> ;Clin Genet. 2005 Mar
• Join now to see all