ElliotSethStolermanMD

PubMed

• Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
  James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buc...> ;American Journal of Human Genetics. 2024 Mar 7
• Clinical case report: mosaicpathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
  Xiaolan Fang, Timothy Fee, Jessica Davis, Elliot S Stolerman, Raymond C Caylor> ;Cold Spring Harbor Molecular Case Studies. 2023 Jun 1
• 2 citations
  The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
  Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Bins...> ;American Journal of Human Genetics. 2023 Jun 1
• RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscu...
  Camerun Washington, Elliot S Stolerman, Jessica A Cooley-Coleman, Julie R Jones, Xiangwen Chen-Deutsch> ;Clinical Case Reports. 2023 Apr 1
• 2 citations
  Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
  Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E Antonarakis, Azadeh Aza...> ;American Journal of Human Genetics. 2023 Feb 2
• 2 citations
  De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
  Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F Berkovic, Martin Broly, Patrick Callaerts, Raymond C Caylor, Perrine Charles, ...> ;Genetics in Medicine. 2022 Dec 1
• 10 citations
  coding variants in thegene cause a neurodevelopmental disorder with intellectual disability.
  Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé ...> ;Journal of Medical Genetics. 2022 Oct 1
• 24 citations
  Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
  Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong Hee Chae, Murim Choi, Karine Siquier,...> ;Nature Communications. 2021 May 7
• 30 citations
  BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
  Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Ugur, Jeremy Wegner, Tiana M. Scott, Brett ...> ;American Journal of Human Genetics. 2020 Dec 3
• 32 citations
  MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
  Christopher C.Y. Mak, Dan Doherty, Angela E. Lin, Nancy Vegas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld-Adams, Davor Lessel, Shelagh Joss,...> ;Brain. 2020 Jan 1
• 27 citations
  Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Jul 1
• 22 citations
  CHD8 intragenic deletion associated with autism spectrum disorder
  Elliot S. Stolerman, Brooke Smith, Alka Chaubey, Julie R. Jones> ;European Journal of Medical Genetics. 2016 Apr 1
• 16 citations
  The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH): Design of a pharmacogenetic Resource for Type 2 Diabetes
  Geoffrey A. Walford, Natalia Colomo, Jennifer N. Todd, Liana K. Billings, Marlene Fernandez, Bindu Chamarthi, A. Sofia Warner, Jaclyn Davis, Katherine R. Littleton, Al...> ;Plos One. 2015 Mar 26
• 59 citations
  Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus.
  Geoffrey A. Walford, Jaclyn Davis, A. Sofia Warner, Rachel J. Ackerman, Liana K. Billings, Bindu Chamarthi, Rebecca R. Fanelli, Alicia M. Hernandez, Chunmei Huang, Sab...> ;Metabolism. 2013 Dec 1
• 321 citations
  Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways
  Nicole Soranzo, Serena Sanna, Eleanor Wheeler, Christian Gieger, Dörte Radke, Josée Dupuis, Nabila Bouatia-Naji, Claudia Langenberg, Inga Prokopenko, Elliot S. Stolerm...> ;Diabetes. 2010 Dec 1
• 64 citations
  Genomics of type 2 diabetes mellitus: implications for the clinician
  Elliot S. Stolerman, Jose C. Florez> ;Nature Reviews. Endocrinology. 2009 Jun 30
• 49 citations
  TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study
  Elliot S. Stolerman, Alisa K. Manning, Jarred B. McAteer, Caroline S. Fox, Josée Dupuis, James B. Meigs, Jose C. Florez> ;Diabetologia. 2009 Jan 31
• 38 citations
  Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
  Elliot S. Stolerman, Alisa K. Manning, Jarred B. McAteer, Josée Dupuis, Caroline S. Fox, L. Adrienne Cupples, James B. Meigs, Jose C. Florez> ;Diabetes. 2008 Jul 1
• 39 citations
  Molecular cloning, sequencing, and tissue and developmental expression of mouse cartilage oligomeric matrix protein (COMP).
  Carrie Fang, Cathy S. Carlson, Michael P. Leslie, Hermina M. Tulli, Elliot Stolerman, Roberto Perris, Ligong Ni, Paul E. Di Cesare> ;Journal of Orthopaedic Research. 2000 Jul 1
• Increased degradation and altered tissue distribution of cartilage oligomeric matrix protein in human rheumatoid and osteoarthritic cartilage.
  Di Cesare, P. E., Carlson, C. S., Stolerman, E. S., Hauser, N., Tulli, H., Paulsson, M.> ;J Orthop Res. 1996 Nov
• Biologic markers of arthritis.
  Scher, D. M., Stolerman, E. S., Di Cesare, P. E.> ;Am J Orthop (Belle Mead NJ). 1996 Apr
• Join now to see all