JenniferLawsonMD

PubMed

• 12 citations
  Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
  David Schapiro, Ankana Daga, Jennifer A. Lawson, Amar J. Majmundar, Svjetlana Lovric, Weizhen Tan, Jillian K. Warejko, Inés Fessi, Jia Rao, Merlin Airik, Heon Yung Gee...> ;Nephrology, Dialysis, Transplantation. 2019 Mar 1
• 64 citations
  Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
  Daniela A. Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, M. Asif, Muhammad Sajid Hussain, Ankana Daga, Eugen Widmeier, Jia Rao, Shazia As...> ;The Journal of Clinical Investigation. 2018 Oct 1
• 73 citations
  Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
  Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Ti...> ;Nature Communications. 2018 May 17
• 9 citations
  Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
  , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Hypertension. 2018 Apr 1
• 130 citations
  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
  Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-...> ;Clinical Journal of the American Society of Nephrology. 2018 Jan 6
• 110 citations
  Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
  Ankana Daga, Amar J. Majmundar, Daniela A. Braun, Heon Yung Gee, Jennifer A. Lawson, Shirlee Shril, Tilman Jobst-Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jil...> ;Kidney International. 2018 Jan 1
• 127 citations
  Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
  Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Jo...> ;Nature Genetics. 2017 Oct 1
• 37 citations
  Mutations in SLC26A1 Cause Nephrolithiasis
  Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael...> ;American Journal of Human Genetics. 2016 Jun 2
• 91 citations
  Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
  Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. J. Ferguson, Zoran Gucev,...> ;Clinical Journal of the American Society of Nephrology. 2016 Apr 7
• 120 citations
  Mutations in nuclear pore genes NUP93 , NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
  Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne Adina Astrinidis, Werner L. Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A. Lawson, Shir...> ;Nature Genetics. 2016 Apr 1
• 34 citations
  Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
  Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O'Roak, Jennifer A. Lawson, ...> ;Journal of Medical Genetics. 2016 Mar 1
• 66 citations
  Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
  Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah R. Stein...> ;Kidney International. 2016 Feb 1
• 28 citations
  IFT81 , encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
  Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan M. Fathy, Sophie Saunier, Valérie Cormier-Daire, Sophie Th...> ;Journal of Medical Genetics. 2015 Aug 14
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