RichardCurtisRogersMD

PubMed

• 18 citations
  KDM5A mutations identified in autism spectrum disorder using forward genetics.
  Lauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, Jamie Russell, Sara Ludwig, Kiran J Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, P...> ;Elife. 2020 Dec 22
• 57 citations
  Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
  Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Grip...> ;Clinical Epigenetics. 2019 Apr 27
• 13 citations
  Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
  Catherine J Spellicy, Yunhui Peng, Leah Olewiler, Sara S. Cathey, R. Curtis Rogers, Dennis Bartholomew, Jacob Johnson, Emil Alexov, Jennifer A. Lee, Michael J. Friez, ...> ;Journal of Human Genetics. 2019 Mar 11
• 4 citations
  Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
  Belinda Campos-Xavier, R. Curtis Rogers, Florence Niel-Bütschi, Catarina Ferreira, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga> ;American Journal of Medical Genetics. Part A. 2018 Oct 4
• 116 citations
  Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
  Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkma...> ;Genetics in Medicine. 2018 Feb 22
• 27 citations
  Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
  Raymond J. Louie, Queenie K.-G. Tan, Jennifer Gilner, R. Curtis Rogers, Noelle Younge, Stephanie Burns Wechsler, Marie T. McDonald, Barbara C. Gordon, Christopher A. S...> ;American Journal of Medical Genetics. Part A. 2017 May 1
• 11 citations
  Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
  Sarah B. Pierce, Suleyman Gulsuner, Gail A. Stapleton, Tom Walsh, Ming K. Lee, Jessica B. Mandell, Augusto Morales, Rachel E. Klevit, Mary Claire King, R. Curtis Rogers> ;Cold Spring Harbor Molecular Case Studies. 2016 Jul 1
• 82 citations
  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
  Susan Byrne, Lara Jansen, Jean Marie U-King-im, Ata Siddiqui, Hart G.W. Lidov, Istvan Bodi, Luke Smith, R. Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, M...> ;Brain. 2016 Mar 1
• 5 citations
  Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
  Katy Phelan, Luigi Boccuto, R. Curtis Rogers, Sara M. Sarasua, Heather E. McDermid> ;American Journal of Medical Genetics. Part A. 2015 Jul 1
• Reply.
  Ramappa, M.,Wilson, M. E.,Trivedi, R. H.,Rogers, R. C.> ;J AAPOS. 2015 Mar 03
• Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.
  Ramappa, M.,Wilson, M. E.,Rogers, R. C.,Trivedi, R. H.> ;J AAPOS. 2014 Oct 01
• 2 citations
  The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases
  Alasdair G. W. Hunter, John M. Graham, Giovanni Neri, R. Curtis Rogers, Roger E. Stevenson, Gillian Turner, Michael J. Friez> ;American Journal of Medical Genetics. Part A. 2014 May 1
• 6 citations
  Long-term observation of a patient with dominant omodysplasia.
  Barbara L. Gordon, Neena L. Champaigne, R. Curtis Rogers, Jaime L. Frias, Jules G. Leroy> ;American Journal of Medical Genetics. Part A. 2014 Jan 23
• 125 citations
  Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome
  Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp, Alka Dwivedi, Chin-Fu Chen, Jonathan D. Rollins, R. Curtis Rogers, Katy Phelan, Barbara R. DuPont> ;Human Genetics. 2014 Jan 31
• 4 citations
  Malformations among the X-linked intellectual disability syndromes.
  Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers> ;American Journal of Medical Genetics. Part A. 2013 Sep 24
• 59 citations
  22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome
  Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto, Chin-Fu Chen, Julia L. Sharp, Jonathan D. Rollins, Julianne S. Collins, R. Curtis Rogers, Katy Phelan, Barbara R. DuPont> ;Genetics in Medicine. 2014 Jan 1
• Clinical utility of the X-chromosome array
  Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, M. Allison Bellomo, Sara S. Cathey, Neena L. Champaigne, L. Kate Clarkson, Barbara R. DuPont, David B. Everman, Joseph S...> ;American Journal of Medical Genetics. Part A. 2013 Jan 1
• Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
  Hodge, J. C.,Mitchell, E.,Pillalamarri, V.,Toler, T. L.,Bartel, F.,Kearney, H. M.,Zou, Y. S.,Tan, W. H.,Hanscom, C.,Kirmani, S.,Hanson, R. R.,Skinner, S. A.,Rogers, R....> ;Mol. Psychiatry. 2013 Apr 16
• 188 citations
  Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
  Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M Mcclelland, Mohammed A...> ;Nature Genetics. 2013 Jan 1
• 80 citations
  GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
  Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jon...> ;American Journal of Human Genetics. 2012 Jun 8
• Short-term memory deficits in carrier females with KDM5C mutations.
  Simensen, R. J., Rogers, R. C., Collins, J. S., Abidi, F., Schwartz, C. E., Stevenson, R. E.> ;Genet Couns. 2012
• 6 citations
  Seizures and X-linked intellectual disability.
  Roger E. Stevenson, Kenton R. Holden, R. Curtis Rogers, Charles E. Schwartz> ;European Journal of Medical Genetics. 2012 May 1
• 25 citations
  Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
  Eric D. Boyden, A. Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. ...> ;American Journal of Human Genetics. 2011 Dec 9
• 100 citations
  Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)
  Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto, Jonathan D. Rollins, Chin-Fu Chen, R. Curtis Rogers, Katy Phelan, Barbara R. DuPont, Julianne S. Collins> ;Journal of Medical Genetics. 2011 Nov 1
• Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability.
  Rogers, R. C., Aufmuth, B., Monesson, S.> ;Case Rep Genet. 2011
• Join now to see all