Dr. Louanne Hudgins

NIPT in a Clinical Setting: An alysis of Uptake in the First Months of Clinical Availability.

Jourl of genetic counseling, 2014

Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome

Human molecular genetics

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

American jourl of medical genetics. Part A

Clinical whole-exome sequencing: are we there yet?

Genetics in medicine : official jourl of the American College of Medic

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

American jourl of medical genetics. Part A, 2014

Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Pretal Testing.

Jourl of genetic counseling

Noninvasive pretal diagnosis in a fetus at risk for methylmalonic acidemia.

Genetics in medicine : official jourl of the American College of Medic

Best ethical practices for clinicians

Pretal diagnosis, 2013

Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2013

Variables Influencing Pregncy Termition Following Pretal Diagnosis of Fetal Chromosome

JOURL OF GENETIC COUNSELING, 2013

The Decision to Continue a Pregncy Affected by Down Syndrome

Jourl of genetic counseling

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta

HUMAN MOLECULAR GENETICS, 2013

Conservatively Maged Fetal Goiter: An Altertive to in utero Therapy.

Fetal diagnosis and therapy, 2013

Whole-exome/genome sequencing and genomics.

Pediatrics, 2013

Evidence that persol genome testing enhances student learning in a course on genomics

PloS one, 2013

Utilization of available pretal screening and diagnosis: effects of the California screen program

JOURL OF PERITOLOGY, 2012

Report of Two Patients

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2012

Mutation risk associated with paterl and materl age in a cohort of retinoblastoma survivors

HUMAN GENETICS, 2012

Consanguinity and the risk of congenital heart disease

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2012

What Is Your Diagnosis? The Diagnosis: Trichorhinophalangeal Syndrome Type I

CUTIS, 2012

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2012

Noninvasive pretal diagnosis: pregnt women's interest and expected uptake

PRETAL DIAGNOSIS, 2011

Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2011

Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2011

Familial Cardiac Valvulopathy Due to Filamin A Mutation

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2011

Medical and graduate students' attitudes toward persol genomics

GENETICS IN MEDICINE, 2011

Nuchal translucency measurement in fetuses with spil muscular atrophy

PRETAL DIAGNOSIS, 2011

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Alysis of Nonsense-mediated mR Decay

HUMAN MUTATION, 2011

Pretal genetic screening and diagnosis for pediatricians

CURRENT OPINION IN PEDIATRICS, 2010

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes

AMERICAN JOURL OF HUMAN GENETICS, 2010

Array-based technology

GENETICS IN MEDICINE, 2010

Clues to an Early Diagnosis of Kallmann Syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2010

Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis

JOURL OF CRANIOFACIAL SURGERY, 2010

Alysis of the Size Distributions of Fetal and Materl Cell-Free D by Paired-End Sequencing

CLINICAL CHEMISTRY, 2010

Challenges in the clinical application of whole-genome sequencing

LANCET, 2010

Clinical assessment incorporating a persol genome

LANCET, 2010

Partial ATRX Gene Duplication Causes ATR-X Syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2009

Brachydactyly A-1 mutations restricted to the central region of the N

EUROPEAN JOURL OF HUMAN GENETICS, 2009

FOXC1 is required for normal cerebellar development

TURE GENETICS, 2009

Preaxial Hallucal Polydactyly as a Marker for Diabetic Embryopathy

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2009

Clinical Utility of Array Comparative Genomic Hybridization

JOURL OF PEDIATRICS, 2009

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing D from materl blood

PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AM, 2008

Further delineation of deletion 1p36 syndrome in 60 patients

PEDIATRICS, 2008

Use of array-based technology in the practice of medical genetics

GENETICS IN MEDICINE, 2007

Clinical features and magement issues in Mowat-Wilson syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2006

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2006

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

American jourl of medical genetics. Part A, 2006

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

GENETICS IN MEDICINE, 2006

Termil deletion of 6p results in a recognizable phenotype

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Detection of sonographic markers of fetal aneuploidy depends on materl and fetal characteristics

JOURL OF ULTRASOUND IN MEDICINE, 2005

Autosomal domint microtia and ocular coloboma

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Clinical and mutatiol spectrum of Mowat-Wilson Syndrome

EUROPEAN JOURL OF MEDICAL GENETICS, 2005

Kabuki syndrome: a review

CLINICAL GENETICS, 2005

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Developmental outcome in Kabuki syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Neotal phenotype in Kabuki syndrome

AMERICAN JOURL OF MEDICAL GENETICS PART A, 2005

Termil 22q deletion syndrome

PEDIATRICS, 2004

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1

JOURL OF PEDIATRICS, 2002

Pretal diagnosis in the adolescent patient.

Adolescent medicine (Philadelphia, Pa.), 2002

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia

PEDIATRICS, 2002

Congenital hypomyelition neuropathy in a newborn infant

PEDIATRICS, 2001

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers

HUMAN GENETICS, 2001

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Banyan-Riley

JOURL OF MEDICAL GENETICS, 2001

Transmission of the dysgthia complex from mother to daughter

AMERICAN JOURL OF MEDICAL GENETICS, 2000

The pediatric intern retreat: 20-year evolution of a continuing investment

ACADEMIC MEDICINE, 2000

Detection of chromosomal aberrations by a whole-genome microsatellite screen

AMERICAN JOURL OF HUMAN GENETICS, 2000

Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring

GENETICS IN MEDICINE, 1999

Phenotypic spectrum and magement issues in Kabuki syndrome

JOURL OF PEDIATRICS, 1999

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

TURE GENETICS, 1999

Expansile bone lesions in a three-generation family

AMERICAN JOURL OF MEDICAL GENETICS, 1999

Phenotypic differences in African Americans with Prader-Willi Syndrome

GENETICS IN MEDICINE, 1998

Shprintzen-Goldberg syndrome: A clinical alysis

AMERICAN JOURL OF MEDICAL GENETICS, 1998

Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?

AMERICAN JOURL OF MEDICAL GENETICS, 1997

Characterization of the split hand split foot malformation locus SHFM1 at 7q21.3

HUMAN MOLECULAR GENETICS, 1996

ISOLATED PERSISTENT HYPERMETHIONINEMIA

AMERICAN JOURL OF HUMAN GENETICS, 1995

A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER

Erickson, R. P., Hudgins, L., Stone, J. F., Schmidt, S., Wilke, C., Gl, 1995

MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18

AMERICAN JOURL OF HUMAN GENETICS, 1994

DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE

PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AM, 1994

JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE

AMERICAN JOURL OF MEDICAL GENETICS, 1994

INTRAVENOUS IMMUNOGLOBULIN THERAPY FOR TOXIC SHOCK SYNDROME

JAMA-JOURL OF THE AMERICAN MEDICAL ASSOCIATION, 1992

EARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY

JOURL OF PEDIATRICS, 1992

HAND AND FOOT LENGTH IN PRADER-WILLI SYNDROME

AMERICAN JOURL OF MEDICAL GENETICS, 1991

LINKAGE ALYSIS IN MARFAN-SYNDROME

JOURL OF MEDICAL GENETICS, 1990