• 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 consequencesJournal of Inherited Metabolic Disease.  40:423-431. 2017
    2017 Clinical relevance of small copy-number variants in chromosomal microarray clinical testingGenetics in Medicine.  19:377-385. 2017
    2014 Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingEuropean Journal of Human Genetics.  22:79-87. 2014
    2014 Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutationClinical Dysmorphology.  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 systemGenetics 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 featuresHuman 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 2011
    2011 Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaPediatric Neurology.  45:274-278. 2011
    2010 A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingMitochondrion.  10:188-191. 2010
    2010 Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon GuidanceCell.  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 siblingsClinical Dysmorphology.  18:178-180. 2009
    2009 AsktheGeneticistSM: Five years of online experienceGenetics 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 21European Journal of Human Genetics.  17:454-466. 2009
    2008 Distal 22q11.2 microduplication encompassing the BCR gene 2008
    2008 Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities 2008
    2008 Constitutional H19 hypermethylation in a patient with isolated cardiac tumor 2008
    2008 Disruption of Neurexin 1 Associated with Autism Spectrum DisorderAmerican Journal of Human Genetics.  82:199-207. 2008
    2007 A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene 2007
    2006 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2) 2006
    2006 Oculoauriculovertebral spectrum with 5p15.33-pter deletionClinical Dysmorphology.  15:153-154. 2006
    2005 Congenital oculomotor nerve synkinesis associated with fetal retinoid syndrome 2005
    2004 The fronto-ocular syndrome: Second mother-daughter case [1] 2004
    2004 Congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a Candidate Locus? 2004
    2004 Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? 2004
    1999 A five-year experience with fragile X screening of high-risk gravid womenAmerican Journal of Obstetrics and Gynecology.  181:789-792. 1999
    1998 Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss 1998
    1997 Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles 1997
    1997 Acrocallosal syndrome: A case reportJournal of Hand Surgery (American Volume).  22:492-494. 1997
    1997 Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene 1997
    1997 Identification of a recombination event narrowing the Lafora disease gene regionJournal of Medical Genetics.  34:590-591. 1997
    1996 Terminal deletion of the long arm of chromosome 4 in a mother and two sons 1996
    1992 Genotypie confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening programPediatric Research.  31:217. 1992
    1990 DNA from guthrie spots for diagnosis of DMD by multiplex PCRBiochemical medicine and metabolic biology.  44:294-295. 1990


    Year Title Altmetric
    2013 Disorders of bone density, volume, and mineralization.  1-20. 2013

    Education And Training

  • San Juan City Hospital, Residency
  • Baylor College of Medicine, Postdoctoral Fellowship
  • Doctor of Medicine, University of Puerto Rico 1983
  • Mayaguez Medical Center, Internship 1984
  • San Juan City Hospital, Residency 1988
  • Baylor College of Medicine, Postdoctoral Fellowship 1991
  • Full Name

  • Maria Descartes