MariaDescartesMD

PubMed

• 1 citations
  Keratoconus in a patient with B3GALT6-related disorder.
  Maria Descartes, Yulia V. Melenevsky, Natasha L. Rudy, Kirstin Smith, Kaitlin Callaway, Jack S. Parker> ;Clinical Genetics. 2021 Feb 25
• 13 citations
  A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
  Jariya Upadia, Alicia Gomes, Peter Weiser, Maria Descartes> ;Journal of Pediatric Genetics. 2018 Jun 16
• 2 citations
  Congenital central hypoventilation syndrome mimicking mitochondrial disease.
  Kitiwan Rojnueangnit, Maria Descartes> ;Clinical Case Reports. 2018 Mar 1
• 10 citations
  Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
  Saskia B. Wortmann, Margaret A. Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D. Botto, Tatiana Yuzyuk, Curtis R. Coughlin, Maria Descartes, Ste...> ;Journal of Inherited Metabolic Disease. 2017 Feb 15
• 18 citations
  Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
  Dana Hollenbeck, Crescenda L. Williams, Kathryn T. Drazba, Maria Descartes, Bruce R. Korf, S. Lane Rutledge, Edward J. Lose, Nathaniel H. Robin, Andrew J. Carroll, Fad...> ;Genetics in Medicine. 2017 Apr 1
• 14 citations
  Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
  Jill A. Rosenfeld, Joyce E. Fox, Maria Descartes, Fallon Brewer, Tracy Stroud, Jerome L. Gorski, Sheila J. Upton, John B. Moeschler, Berrin Monteleone, Nicholas J. Nei...> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
• 26 citations
  Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
  Maria Descartes, Kitiwan Rojnueangnit, Laura Cole, Amelia Sutton, Sarah L. Morgan, Lysanne Patry, Mark E. Samuels> ;Clinical Dysmorphology. 2014 Jul 1
• 33 citations
  Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age
  Christina Lampe, Andrea M. Atherton, Barbara K. Burton, Maria Descartes, Roberto Giugliani, Dafne Dain Gandelman Horovitz, Sandra Obikawa Kyosen, Tatiana S. P. C. Maga...> ;JIMD Reports. 2014 Jan 1
• 90 citations
  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
  Joanna Wiszniewska, Weimin Bi, Chad A. Shaw, Pawel Stankiewicz, Sung-Hae L. Kang, Amber N. Pursley, Seema R. Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Han...> ;European Journal of Human Genetics. 2014 Jan 1
• 133 citations
  The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
  Fady M. Mikhail, Rachel D. Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S. Lane Rutledge, Nathaniel H. Robin, Maria Descartes, Andrew J. Carroll> ;Genetics in Medicine. 2014 Jan 1
• 79 citations
  Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
  Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra J Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A...> ;Human Mutation. 2012 Apr 1
• 134 citations
  Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or...
  Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf, Andrew J. Carroll> ;American Journal of Medical Genetics. Part A. 2011 Oct 1
• 8 citations
  Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia
  Maria Descartes, Fady M. Mikhail, Judith Franklin, Tony M. McGrath, Martina Bebin> ;Pediatric Neurology. 2011 Oct 1
• 21 citations
  Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
  Graeme Nimmo, Sarah Monsonego, Maria Descartes, Judith Franklin, Steven J. Steinberg, Nancy Braverman> ;American Journal of Medical Genetics. Part A. 2010 Jul 1
• 11 citations
  A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
  Jack Q. Ji, David Dimmock, Lin-Ya Tang, Maria Descartes, Roberto Gomez, S. Lane Rutledge, Eric S. Schmitt, Lee-Jun C. Wong> ;Mitochondrion. 2010 Mar 1
• 418 citations
  Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
  Max A. Tischfield, Hagit N. Baris, Chen Wu, G. Rudolph, Lionel Van Maldergem, Wei He, Wai-Man Chan, Caroline Andrews, Joseph L. Demer, Richard L. Robertson, David A. M...> ;Cell. 2010 Jan 8
• 3 citations
  A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings.
  Maria Descartes, Stuart A. Royal, Judith Franklin, Kara Goodin, Melissa Mancuso, Fady M. Mikhail, Lynn Holt> ;Clinical Dysmorphology. 2009 Jul 1
• 2 citations
  AsktheGeneticistSM: five years of online experience
  Catherine Tesla, Bruce R. Korf, Lynn Holt, Sandra Prucka, Nathaniel H. Robin, Maria Descartes, Edward J. Lose, Adrya Stembridge, Michael P. Epstein, Stephen T. Warren> ;Genetics in Medicine. 2009 Apr 1
• 204 citations
  Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
  Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Do...> ;European Journal of Human Genetics. 2009 Apr 1
• 17 citations
  Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
  Maria Descartes, Julie Zenger Hain, Michael Conklin, Judy Franklin, Fady M. Mikhail, Ralph S. Lachman, Serge Nolet, Ludwine Messiaen> ;American Journal of Medical Genetics. Part A. 2008 Nov 15
• 27 citations
  Distal 22q11.2 microduplication encompassing the BCR gene
  Maria Descartes, Judy Franklin, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll, Fady M. Mikhail> ;American Journal of Medical Genetics. Part A. 2008 Dec 1
• 7 citations
  Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
  Maria Descartes, Robb L. Romp, Judy Franklin, Joseph R. Biggio, Barbara A. Zehnbauer> ;American Journal of Medical Genetics. Part A. 2008 Aug 15
• 28 citations
  Terminal deletion of the long arm of chromosome 4 in a mother and two sons
  Maria Descartes, Kim M. Keppler-Noreuil, Judith F. Knops, John W. Longshore, Wayne H. Finley, Andrew J. Carroll> ;Clinical Genetics. 2008 Apr 23
• 432 citations
  Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
  Hyung Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn Sik Seong, Diana J. Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Desc...> ;American Journal of Human Genetics. 2008 Jan 10
• 116 citations
  A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
  Fady M. Mikhail, Maria Descartes, Arkadiusz Piotrowski, Robin Andersson, Teresita Díaz de Ståhl, Jan Komorowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll> ;American Journal of Medical Genetics. Part A. 2007 Sep 15
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