Louanne Hudgins

Publications

• Jourl of genetic counselingNIPT in a Clinical Setting: An alysis of Uptake in the First Months of Clinical Availability.2014
• Human molecular geneticsLoss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome0
• American jourl of medical genetics. Part ANine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.0
• Genetics in medicine : official jourl of the American College of MedicClinical whole-exome sequencing: are we there yet?0
• American jourl of medical genetics. Part AExpansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.2014
• Jourl of genetic counselingAttitudes of Mothers of Children with Down Syndrome Towards Noninvasive Pretal Testing.0
• Genetics in medicine : official jourl of the American College of MedicNoninvasive pretal diagnosis in a fetus at risk for methylmalonic acidemia.0
• Pretal diagnosisBest ethical practices for clinicians2013
• AMERICAN JOURL OF MEDICAL GENETICS PART AExpanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome2013
• JOURL OF GENETIC COUNSELINGVariables Influencing Pregncy Termition Following Pretal Diagnosis of Fetal Chromosome2013
• Jourl of genetic counselingThe Decision to Continue a Pregncy Affected by Down Syndrome0
• HUMAN MOLECULAR GENETICSMutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta2013
• Fetal diagnosis and therapyConservatively Maged Fetal Goiter: An Altertive to in utero Therapy.2013
• PediatricsWhole-exome/genome sequencing and genomics.2013
• PloS oneEvidence that persol genome testing enhances student learning in a course on genomics2013
• JOURL OF PERITOLOGYUtilization of available pretal screening and diagnosis: effects of the California screen program2012
• AMERICAN JOURL OF MEDICAL GENETICS PART AReport of Two Patients2012
• HUMAN GENETICSMutation risk associated with paterl and materl age in a cohort of retinoblastoma survivors2012
• AMERICAN JOURL OF MEDICAL GENETICS PART AConsanguinity and the risk of congenital heart disease2012
• CUTISWhat Is Your Diagnosis? The Diagnosis: Trichorhinophalangeal Syndrome Type I2012
• AMERICAN JOURL OF MEDICAL GENETICS PART AMicrodeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus2012
• PRETAL DIAGNOSISNoninvasive pretal diagnosis: pregnt women's interest and expected uptake2011
• AMERICAN JOURL OF MEDICAL GENETICS PART AEctopia Lentis as the Presenting and Primary Feature in Marfan Syndrome2011
• AMERICAN JOURL OF MEDICAL GENETICS PART AHorseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis2011
• AMERICAN JOURL OF MEDICAL GENETICS PART AFamilial Cardiac Valvulopathy Due to Filamin A Mutation2011
• GENETICS IN MEDICINEMedical and graduate students' attitudes toward persol genomics2011
• PRETAL DIAGNOSISNuchal translucency measurement in fetuses with spil muscular atrophy2011
• HUMAN MUTATIONCarpenter Syndrome: Extended RAB23 Mutation Spectrum and Alysis of Nonsense-mediated mR Decay2011
• CURRENT OPINION IN PEDIATRICSPretal genetic screening and diagnosis for pediatricians2010
• AMERICAN JOURL OF HUMAN GENETICSA Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes2010
• GENETICS IN MEDICINEArray-based technology2010
• AMERICAN JOURL OF MEDICAL GENETICS PART AClues to an Early Diagnosis of Kallmann Syndrome2010
• JOURL OF CRANIOFACIAL SURGERYFibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis2010
• CLINICAL CHEMISTRYAlysis of the Size Distributions of Fetal and Materl Cell-Free D by Paired-End Sequencing2010
• LANCETChallenges in the clinical application of whole-genome sequencing2010
• LANCETClinical assessment incorporating a persol genome2010
• AMERICAN JOURL OF MEDICAL GENETICS PART APartial ATRX Gene Duplication Causes ATR-X Syndrome2009
• EUROPEAN JOURL OF HUMAN GENETICSBrachydactyly A-1 mutations restricted to the central region of the N2009
• TURE GENETICSFOXC1 is required for normal cerebellar development2009
• BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGYPreaxial Hallucal Polydactyly as a Marker for Diabetic Embryopathy2009
• JOURL OF PEDIATRICSClinical Utility of Array Comparative Genomic Hybridization2009
• PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMNoninvasive diagnosis of fetal aneuploidy by shotgun sequencing D from materl blood2008
• PEDIATRICSFurther delineation of deletion 1p36 syndrome in 60 patients2008
• GENETICS IN MEDICINEUse of array-based technology in the practice of medical genetics2007
• AMERICAN JOURL OF MEDICAL GENETICS PART AClinical features and magement issues in Mowat-Wilson syndrome2006
• AMERICAN JOURL OF MEDICAL GENETICS PART AGenitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX42006
• American jourl of medical genetics. Part ATriplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.2006
• GENETICS IN MEDICINEThe diagnostic utility of a genetics evaluation in children with pervasive developmental disorders2006
• AMERICAN JOURL OF MEDICAL GENETICS PART ATermil deletion of 6p results in a recognizable phenotype2005
• JOURL OF ULTRASOUND IN MEDICINEDetection of sonographic markers of fetal aneuploidy depends on materl and fetal characteristics2005
• AMERICAN JOURL OF MEDICAL GENETICS PART AAutosomal domint microtia and ocular coloboma2005
• AMERICAN JOURL OF MEDICAL GENETICS PART AKaryotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q272005
• EUROPEAN JOURL OF MEDICAL GENETICSClinical and mutatiol spectrum of Mowat-Wilson Syndrome2005
• CLINICAL GENETICSKabuki syndrome: a review2005
• AMERICAN JOURL OF MEDICAL GENETICS PART ALateral meningocele syndrome: Vertical transmission and expansion of the phenotype2005
• AMERICAN JOURL OF MEDICAL GENETICS PART ADevelopmental outcome in Kabuki syndrome2005
• AMERICAN JOURL OF MEDICAL GENETICS PART ANeotal phenotype in Kabuki syndrome2005
• PEDIATRICSTermil 22q deletion syndrome2004
• JOURL OF PEDIATRICSClinical and molecular features of congenital disorder of glycosylation in patients with type 12002
• Adolescent medicine (Philadelphia, Pa.)Pretal diagnosis in the adolescent patient.2002
• PEDIATRICSIntracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia2002
• PEDIATRICSCongenital hypomyelition neuropathy in a newborn infant2001
• HUMAN GENETICSScanning for telomeric deletions and duplications and uniparental disomy using genetic markers2001
• JOURL OF MEDICAL GENETICSThe spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Banyan-Riley2001
• AMERICAN JOURL OF MEDICAL GENETICSTransmission of the dysgthia complex from mother to daughter2000
• ACADEMIC MEDICINEThe pediatric intern retreat: 20-year evolution of a continuing investment2000
• AMERICAN JOURL OF HUMAN GENETICSDetection of chromosomal aberrations by a whole-genome microsatellite screen2000
• GENETICS IN MEDICINEInconsistencies in genetic counseling and screening for consanguineous couples and their offspring1999
• JOURL OF PEDIATRICSPhenotypic spectrum and magement issues in Kabuki syndrome1999
• TURE GENETICSHeterozygous mutations in the gene encoding noggin affect human joint morphogenesis1999
• AMERICAN JOURL OF MEDICAL GENETICSExpansile bone lesions in a three-generation family1999
• GENETICS IN MEDICINEPhenotypic differences in African Americans with Prader-Willi Syndrome1998
• AMERICAN JOURL OF MEDICAL GENETICSShprintzen-Goldberg syndrome: A clinical alysis1998
• AMERICAN JOURL OF MEDICAL GENETICSDigital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?1997
• HUMAN MOLECULAR GENETICSCharacterization of the split hand split foot malformation locus SHFM1 at 7q21.31996
• AMERICAN JOURL OF HUMAN GENETICSISOLATED PERSISTENT HYPERMETHIONINEMIA1995
• Erickson, R. P., Hudgins, L., Stone, J. F., Schmidt, S., Wilke, C., GlA BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER1995
• AMERICAN JOURL OF HUMAN GENETICSMOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-181994
• PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMDOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE1994
• AMERICAN JOURL OF MEDICAL GENETICSJARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE1994
• JAMA-JOURL OF THE AMERICAN MEDICAL ASSOCIATIONINTRAVENOUS IMMUNOGLOBULIN THERAPY FOR TOXIC SHOCK SYNDROME1992
• JOURL OF PEDIATRICSEARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY1992
• AMERICAN JOURL OF MEDICAL GENETICSHAND AND FOOT LENGTH IN PRADER-WILLI SYNDROME1991
• JOURL OF MEDICAL GENETICSLINKAGE ALYSIS IN MARFAN-SYNDROME1990

Louanne Hudgins's Practice location