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NIPT in a Clinical Setting: An alysis of Uptake in the First Months of Clinical Availability.
, 2014
Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
Clinical whole-exome sequencing: are we there yet?
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
, 2014
Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Pretal Testing.
Noninvasive pretal diagnosis in a fetus at risk for methylmalonic acidemia.
Best ethical practices for clinicians
, 2013
Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome
, 2013
Variables Influencing Pregncy Termition Following Pretal Diagnosis of Fetal Chromosome
, 2013
The Decision to Continue a Pregncy Affected by Down Syndrome
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta
, 2013
Conservatively Maged Fetal Goiter: An Altertive to in utero Therapy.
, 2013
Whole-exome/genome sequencing and genomics.
, 2013
Evidence that persol genome testing enhances student learning in a course on genomics
, 2013
Utilization of available pretal screening and diagnosis: effects of the California screen program
, 2012
Report of Two Patients
, 2012
Mutation risk associated with paterl and materl age in a cohort of retinoblastoma survivors
, 2012
Consanguinity and the risk of congenital heart disease
, 2012
What Is Your Diagnosis? The Diagnosis: Trichorhinophalangeal Syndrome Type I
, 2012
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus
, 2012
Noninvasive pretal diagnosis: pregnt women's interest and expected uptake
, 2011
Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome
, 2011
Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis
, 2011
Familial Cardiac Valvulopathy Due to Filamin A Mutation
, 2011
Medical and graduate students' attitudes toward persol genomics
, 2011
Nuchal translucency measurement in fetuses with spil muscular atrophy
, 2011
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Alysis of Nonsense-mediated mR Decay
, 2011
Pretal genetic screening and diagnosis for pediatricians
, 2010
A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes
, 2010
Array-based technology
, 2010
Clues to an Early Diagnosis of Kallmann Syndrome
, 2010
Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis
, 2010
Alysis of the Size Distributions of Fetal and Materl Cell-Free D by Paired-End Sequencing
, 2010
Challenges in the clinical application of whole-genome sequencing
, 2010
Clinical assessment incorporating a persol genome
, 2010
Partial ATRX Gene Duplication Causes ATR-X Syndrome
, 2009
Brachydactyly A-1 mutations restricted to the central region of the N
, 2009
FOXC1 is required for normal cerebellar development
, 2009
Preaxial Hallucal Polydactyly as a Marker for Diabetic Embryopathy
, 2009
Clinical Utility of Array Comparative Genomic Hybridization
, 2009
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing D from materl blood
, 2008
Further delineation of deletion 1p36 syndrome in 60 patients
, 2008
Use of array-based technology in the practice of medical genetics
, 2007
Clinical features and magement issues in Mowat-Wilson syndrome
, 2006
Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4
, 2006
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
, 2006
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders
, 2006
Termil deletion of 6p results in a recognizable phenotype
, 2005
Detection of sonographic markers of fetal aneuploidy depends on materl and fetal characteristics
, 2005
Autosomal domint microtia and ocular coloboma
, 2005
Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27
, 2005
Clinical and mutatiol spectrum of Mowat-Wilson Syndrome
, 2005
Kabuki syndrome: a review
, 2005
Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype
, 2005
Developmental outcome in Kabuki syndrome
, 2005
Neotal phenotype in Kabuki syndrome
, 2005
Termil 22q deletion syndrome
, 2004
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1
, 2002
Pretal diagnosis in the adolescent patient.
, 2002
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia
, 2002
Congenital hypomyelition neuropathy in a newborn infant
, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers
, 2001
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Banyan-Riley
, 2001
Transmission of the dysgthia complex from mother to daughter
, 2000
The pediatric intern retreat: 20-year evolution of a continuing investment
, 2000
Detection of chromosomal aberrations by a whole-genome microsatellite screen
, 2000
Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring
, 1999
Phenotypic spectrum and magement issues in Kabuki syndrome
, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
, 1999
Expansile bone lesions in a three-generation family
, 1999
Phenotypic differences in African Americans with Prader-Willi Syndrome
, 1998
Shprintzen-Goldberg syndrome: A clinical alysis
, 1998
Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?
, 1997
Characterization of the split hand split foot malformation locus SHFM1 at 7q21.3
, 1996
ISOLATED PERSISTENT HYPERMETHIONINEMIA
, 1995
A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER
, 1995
MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18
, 1994
DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE
, 1994
JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE
, 1994
INTRAVENOUS IMMUNOGLOBULIN THERAPY FOR TOXIC SHOCK SYNDROME
, 1992
EARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY
, 1992
HAND AND FOOT LENGTH IN PRADER-WILLI SYNDROME
, 1991
LINKAGE ALYSIS IN MARFAN-SYNDROME
, 1990

