Descartes, Maria

Descartes, Maria
Professor

Professor (S), Pediatrics , School of Medicine 2003 -
Professor (P), Clinical Genetics , Genetics 2003 -
Associate Scientist (C), Minority Health & Research Center , General Clinical Research Center 2004 -
Senior Scientist (C), Comprehensive Arthritis, Musculoskeletal, Bone and Autoimmunity Center (CAMBAC) , School of Medicine 2015 -
Senior Scientist (C), Civitan International Research Center , Academic Joint Departments 2017 -

Overview

I am a pediatrician and geneticist at the University of Alabama at Birmingham. I did my fellowship in genetics at Baylor College of Medicine in Houston, Texas, after which I accepted a faculty position in the Department of Genetics at UAB in 1991. I am board certified both by the American Academy of Pediatrics and the American Board of Medical Genetics in Clinical and Medical Biochemical Genetics. My clinical practice is primarily as a general geneticist with expertise in dysmorphology, skeletal dysplasias, and patients with lysosomal storage disorders and inherited disorders of metabolism.

Selected Publications

Academic Article

Year	Title	Altmetric
2017	Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of Inherited Metabolic Disease. 40:423-431. 2017
2017	Clinical relevance of small copy-number variants in chromosomal microarray clinical testing. Genetics in Medicine. 19:377-385. 2017
2014	Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics. 22:79-87. 2014
2014	Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutation. Journal of Corporate Real Estate. 23:88-94. 2014
2014	The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization system. Genetics in Medicine. 16:92-100. 2014
2012	Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 33:728-740. 2012
2011	Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Journal of Ethnopharmacology. 155:2386-2396. 2011
2011	Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. Pediatric Neurology. 45:274-278. 2011
2010	A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 10:188-191. 2010
2010	Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. Lancet Public Health. 140:74-87. 2010
2009	A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: A case report of two siblings. Journal of Corporate Real Estate. 18:178-180. 2009
2009	AsktheGeneticist^SM: Five years of online experience. Genetics in Medicine. 11:294-304. 2009
2009	Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics. 17:454-466. 2009
2008	Distal 22q11.2 microduplication encompassing the BCR gene. Journal of Ethnopharmacology. 146:3075-3081. 2008
2008	Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Journal of Ethnopharmacology. 146:2937-2943. 2008
2008	Constitutional H19 hypermethylation in a patient with isolated cardiac tumor. Journal of Ethnopharmacology. 146:2126-2129. 2008
2008	Disruption of Neurexin 1 Associated with Autism Spectrum Disorder. Journal of Cybersecurity Education, Research, and Practice. 82:199-207. 2008
2007	A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene. Journal of Ethnopharmacology. 143:2178-2184. 2007
2006	Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). Journal of Ethnopharmacology. 140:1647-1654. 2006
2006	Oculoauriculovertebral spectrum with 5p15.33-pter deletion. Journal of Corporate Real Estate. 15:153-154. 2006
2005	Congenital oculomotor nerve synkinesis associated with fetal retinoid syndrome. Journal of AAPOS. 9:166-168. 2005
2004	The fronto-ocular syndrome: Second mother-daughter case [1]. GUY'S HOSP.REP.. 65:501-502. 2004
2004	Congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a Candidate Locus?. Journal of Ethnopharmacology. 126 A:183-185. 2004
2004	Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?. Journal of Ethnopharmacology. 126A:183-185. 2004
1999	A five-year experience with fragile X screening of high-risk gravid women. American Journal of Criminal Justice. 181:789-792. 1999
1998	Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. Journal of Ethnopharmacology. 76:372-378. 1998
1997	Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. Journal of Ethnopharmacology. 73:447-455. 1997
1997	Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene. International Journal of Modern Physics C. 43:1163-1171. 1997
1997	Identification of a recombination event narrowing the Lafora disease gene region. Journal of Medical Genetics. 34:590-591. 1997
1997	Acrocallosal syndrome: A case report. Journal of Hand Surgery (American Volume). 22:492-494. 1997
1996	Terminal deletion of the long arm of chromosome 4 in a mother and two sons. GUY'S HOSP.REP.. 50:538-540. 1996
1992	Genotypie confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatric Research. 31:217. 1992
1990	DNA from guthrie spots for diagnosis of DMD by multiplex PCR. Diseases of the Esophagus. 44:294-295. 1990