RobertRogerLebelMD

PubMed

• TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
  Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfe...> ;Nature Communications. 2024 Feb 22
• 2 citations
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
  Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
• 14 citations
  Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
  Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W Ten Broeke, Nicole de Leeuw, Laura Roht, Sander Pajusalu, Reelika Part, Ionella Rebane, ...> ;American Journal of Human Genetics. 2021 Sep 2
• 21 citations
  Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
  Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han G. Brunner, Saskia Bu...> ;Genetics in Medicine. 2021 Mar 5
• 6 citations
  Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
  Eva Jacobs, Kathleen Brown, Melissa Byler, Erika D'haenens, Annelies Dheedene, Lindsay B. Henderson, Jennifer B. Humberson, Richard H. van Jaarsveld, Farah Kanani, Rob...> ;Clinical Genetics. 2021 Feb 1
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 2 citations
  Opinion and Special Articles: Cerebellar ataxia and liver failure complicating IPEX syndrome
  Joshua Rim, Melissa Byler, Ariane Soldatos, Luigi Notarangelo, Emily Leibovitch, Steven Jacobson, Mark Gorman, Robert Roger Lebel, Klaus Werner> ;Neurology. 2020 Nov 9
• 19 citations
  MAGEL2-related disorders: A study and case series.
  Jameson Patak, James Gilfert, Melissa Byler, Vamsee K Neerukonda, Isabelle Thiffault, Laura A Cross, Shivarajan M. Amudhavalli, Marta Pacio-Míguez, María Palomares-Bra...> ;Clinical Genetics. 2019 Aug 22
• 1 citations
  50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.
  Robert Roger Lebel> ;The Journal of Pediatrics. 2018 Jan 1
• 274 citations
  High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
  Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieu...> ;American Journal of Human Genetics. 2017 Nov 2
• 2 citations
  Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations
  Jordana L. Gilman, Heather A. Newman, Rebecca Freeman, Kathryn E. Singh, Rebecca L. Puckett, David K. Morohashi, Constance K. Stein, Kathryn Palomino, Robert Roger Leb...> ;American Journal of Medical Genetics. Part A. 2017 Mar 1
• 23 citations
  Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping.
  J.S. Amos, Lijia Huang, Julien Thevenon, A. Kariminedjad, Chandree L. Beaulieu, Alice Masurel-Paulet, Hossein Najmabadi, Zohreh Fattahi, Maryam Beheshtian, Seyed Hassa...> ;Clinical Genetics. 2017 Jan 1
• 38 citations
  De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
  Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally J. Davies, Robert Roger Lebel, Alex Henderson, Christian P. ...> ;Human Mutation. 2016 Apr 1
• 33 citations
  The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
  Mark N. Ziats, Robin P. Goin-Kochel, Leandra N. Berry, May Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Patricia I. Bader, Michael J. Gambello, Varina Wolf, Lynett...> ;Genetics in Medicine. 2016 Mar 10
• 27 citations
  CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
  Joseph DeMari, Cameron Mroske, Sha Tang, Joseph Nimeh, Ryan Miller, Robert Roger Lebel> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 53 citations
  A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression
  William C. Wilson, Hue Tran Hornig-Do, Francesco Bruni, Jeong Ho Chang, Alexis A. Jourdain, Jean-Claude Martinou, Maria Falkenberg, Henrik Spåhr, Nils-Göran Larsson, R...> ;Human Molecular Genetics. 2014 Dec 1
• 16 citations
  A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
  Jules G. Leroy, David Sillence, Tim Wood, Jarrod W. Barnes, Robert Roger Lebel, Michael J. Friez, Roger E. Stevenson, Richard Steet, Sara Cathey> ;European Journal of Human Genetics. 2014 May 1
• 8 citations
  Celiac artery disease and fatal rupture of a hepatic artery aneurysm in the Ehlers-Danlos syndrome.
  Amritpal Nat, Tanya George, Gregory Mak, Amit Sharma, Amitpal Nat, Robert Roger Lebel> ;Proceedings. 2014 Apr 1
• 108 citations
  Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1
  Aaron Hamvas, Robin R. Deterding, Susan E. Wert, Frances V. White, Danielle N. Alfano, Ann C. Halbower, Benjamin Planer, Mark J. Stephan, Derek A. Uchida, Lee D. Willi...> ;Chest. 2013 Sep 1
• 8 citations
  Risks of reproducing with a genetic disorder.
  Melissa Byler, Robert Roger Lebel> ;Seminars in Reproductive Medicine. 2013 Jun 17
• 396 citations
  Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
  Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman, Amy Goldstein, Robyn A. Filipink, Juliann Mcconnell, Brad Angle, Wendy S. Meschi...> ;The New England Journal of Medicine. 2012 Oct 3
• That personal touch.
  Robert Roger Lebel> ;The Hastings Center Report. 2011 May 1
• 3 citations
  PRENATAL DIAGNOSTIC ACCURACY IN SOUTH CAROLINA DEMONSTRATED BY AUTOPSY
  Robert Roger Lebel, Jennifer M. Avery, Patti J. Broome, Julianne S. Collins> ;Fetal and Pediatric Pathology. 2009 Oct 8
• 1 citations
  FETAL PERITONITIS DUE TO APPENDICEAL RUPTURE: A RARE COMPLICATION OF HYDROPS
  Robert Roger Lebel, Jennifer M. Avery, Patti J. Broome, Anthony R. Gregg, Carol Alan, Mahmoud Mostafa> ;Fetal and Pediatric Pathology. 2008 Jan 1
• Cancer epidemiology and outcomes for the State of South Carolina.
  Robert Roger Lebel, Robert A Saul> ;Journal of the South Carolina Medical Association. 2007 Feb 1
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