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Louanne Hudgins
Medical Geneticist/Genomicist - Clinical Genetics and Genomics (MD)

Highlights

  • Board Certified

Biography

Louanne Hudgins is a Medical Geneticist/Genomicist - Clinical Genetics and Genomics (MD) practicing in Stanford, CA

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Summary

Provider Training

UniversityDegreeFocusGraduated
University of Kansas Medical KsOther DegreeMD1984

CertificationCert. BodyYear
Clinical Genetics (MD)Medical GeneticsNot Specified

Experience & Accolades

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

Specialties

Languages Spoken
English
Medical Specialties
  • Medical Geneticist/Genomicist - Sub-Specialty: Clinical Genetics and Genomics (MD)

Accepts New Patients: Yes

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