Louanne Hudgins

Geneticist

Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital and, by courtesy, of Obstetrics and Gynecology at the Stanford University Medical Center

Professional Education

Medical Education: University of Kansas School of Medicine (1984) KS

Fellowship: University of Connecticut (1990) CT

Board Certification: Clinical Genetics, American Board of Medical Genetics (1993)

Residency: University of Connecticut (1987) CT

Internship: University of Connecticut-School of Medicine (1985) CT

Honors & Awards

Mosbacher Family Distinguished Packard Fellow, Stanford University School of Medicine, Department of Pediatrics (2008-present)

Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing.
Kellogg, G., Slattery, L., Hudgins, L., & Ormond, K. (2014). Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing. Journal of genetic counseling, 23(5), 805-813.

Clinical whole-exome sequencing: are we there yet?
Atwal, P. S., Brennan, M.-L., Cox, R., Niaki, M., Platt, J., & Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet?. GENETICS IN MEDICINE, 16(9), 717-719.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
Esplin, E. D., Li, B., Slavotinek, A., Novelli, A., Battaglia, A., & Hudgins, L. (2014). Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. American journal of medical genetics. Part A, 164(8), 2097-2103.

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.
Gu, W., Koh, W., Blumenfeld, Y. J., El-Sayed, Y. Y., Hudgins, L., & Quake, S. R. (2014). Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genetics in medicine , 16(7), 564-567.

NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability
Taylor, J. B., Chock, V. Y., & Hudgins, L. (2014). NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability. JOURNAL OF GENETIC COUNSELING, 23(1), 72-78.

Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance.
Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., & Deardorff, M. A. (2014). Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. Human molecular genetics.

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome.
Myers, A., Bernstein, J. A., Brennan, M. L., Curry, C., Esplin, E. D., & Hudgins, L. (2014). Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. American journal of medical genetics. Part A.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Johnston, J. J., Sapp, J. C., Curry, C., Horton, M., Leon, E., & Biesecker, L. G. (2014). Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American journal of medical genetics. Part A, 164A(1), 120-128.

Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing
Allyse, M. A., Sayres, L. C., Havard, M., King, J. S., Greely, H. T., & Ormond, K. E. (2013). Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing. PRENATAL DIAGNOSIS, 33(7), 656-661.

Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome
Algaze, C., Esplin, E. D., Lowenthal, A., Hudgins, L., Tacy, T. A., & Tierney, E. S. S. (2013). Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161A(6), 1386-1389.

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities
Hawkins, A., Stenzel, A., Taylor, J., Chock, V. Y., & Hudgins, L. (2013). Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities. JOURNAL OF GENETIC COUNSELING, 22(2), 238-248.

The Decision to Continue a Pregnancy Affected by Down Syndrome: Timing of Decision and Satisfaction with Receiving a Prenatal Diagnosis.
Hurford, E., Hawkins, A., Hudgins, L., & Taylor, J. (2013). The Decision to Continue a Pregnancy Affected by Down Syndrome: Timing of Decision and Satisfaction with Receiving a Prenatal Diagnosis. Journal of genetic counseling.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, U., Cundy, T., Pyott, S. M., Christiansen, H. E., Hegde, M. R., & Byers, P. H. (2013). Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. HUMAN MOLECULAR GENETICS, 22(1), 1-17.

Conservatively Managed Fetal Goiter: An Alternative to in utero Therapy
Blumenfeld, Y. J., Davis, A., Milan, K., Chueh, J., Hudgins, L., & Hintz, S. R. (2013). Conservatively Managed Fetal Goiter: An Alternative to in utero Therapy. FETAL DIAGNOSIS AND THERAPY, 34(3), 184-187.

Whole-exome/genome sequencing and genomics.
Grody, W. W., Thompson, B. H., & Hudgins, L. (2013). Whole-exome/genome sequencing and genomics. Pediatrics, 132(Suppl 3), S211-5.

Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.
Salari, K., Karczewski, K. J., Hudgins, L., & Ormond, K. E. (2013). Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PloS one, 8(7).

Utilization of available prenatal screening and diagnosis: effects of the California screen program
Blumenfeld, Y. J., Taylor, J., Lee, H. C., Hudgins, L., Sung, J. F., & El-Sayed, Y. Y. (2012). Utilization of available prenatal screening and diagnosis: effects of the California screen program. JOURNAL OF PERINATOLOGY, 32(12), 907-912.

Report of Two Patients and Further Characterization of Interstitial 9p13 Deletion-A Rare But Recurrent Microdeletion Syndrome?
Niemi, A.-K., Kwan, A., Hudgins, L., Cherry, A. M., & Manning, M. A. (2012). Report of Two Patients and Further Characterization of Interstitial 9p13 Deletion-A Rare But Recurrent Microdeletion Syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(9), 2328-2335.

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors
Mills, M. B., Hudgins, L., Balise, R. R., Abramson, D. H., & Kleinerman, R. A. (2012). Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors. HUMAN GENETICS, 131(7), 1115-1122.

Consanguinity and the risk of congenital heart disease
Shieh, J. Tc., Bittles, A. H., & Hudgins, L. (2012). Consanguinity and the risk of congenital heart disease. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(5), 1236-1241.

What Is Your Diagnosis? The Diagnosis: Trichorhinophalangeal Syndrome Type I
Snyder, J. R., Berk, D. R., Kwan, A., Hudgins, L., & Bruckner, A. L. (2012). What Is Your Diagnosis? The Diagnosis: Trichorhinophalangeal Syndrome Type I. CUTIS, 89(2), 56-?.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
Muller, E. A., Aradhya, S., Atkin, J. F., Carmany, E. P., Elliott, A. M., & Hudgins, L. (2012). Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(2), 391-399.

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake
Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011). Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake. PRENATAL DIAGNOSIS, 31(13), 1292-1299.

Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome
Zadeh, N., Bernstein, J. A., Niemi, A. K., Dugan, S., Kwan, A., & Manning, M. A. (2011). Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(11), 2661-2668.

Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis Complex
Niemi, A.-K., Northrup, H., Hudgins, L., & Bernstein, J. A. (2011). Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis Complex. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(10), 2534-2537.

Familial Cardiac Valvulopathy Due to Filamin A Mutation
Bernstein, J. A., Bernstein, D., Hehr, U., & Hudgins, L. (2011). Familial Cardiac Valvulopathy Due to Filamin A Mutation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(9), 2236-2241.

Medical and graduate students' attitudes toward personal genomics
Ormond, K. E., Hudgins, L., Ladd, J. M., Magnus, D. M., Greely, H. T., & Cho, M. K. (2011). Medical and graduate students' attitudes toward personal genomics. GENETICS IN MEDICINE, 13(5), 400-408.

Nuchal translucency measurement in fetuses with spinal muscular atrophy
Zadeh, N., Hudgins, L., & Norton, M. E. (2011). Nuchal translucency measurement in fetuses with spinal muscular atrophy. PRENATAL DIAGNOSIS, 31(4), 327-330.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay
Jenkins, D., Baynam, G., de Catte, L., Elcioglu, N., Gabbett, M. T., & Wilkie, A. Om. (2011). Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay. HUMAN MUTATION, 32(4), E2069-E2078.

Prenatal genetic screening and diagnosis for pediatricians
Cunniff, C., & Hudgins, L. (2010). Prenatal genetic screening and diagnosis for pediatricians. CURRENT OPINION IN PEDIATRICS, 22(6), 809-813.

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes
Shlien, A., Baskin, B., Achatz, M. I. W., Stavropoulos, D. J., Nichols, K. E., & Malkin, D. (2010). A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13 1 Microdeletion Syndromes. AMERICAN JOURNAL OF HUMAN GENETICS, 87(5), 631-642.

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. GENETICS IN MEDICINE, 12(11), 742-745.

Clues to an Early Diagnosis of Kallmann Syndrome
Kaplan, J. D., Bernstein, J. A., Kwan, A., & Hudgins, L. (2010). Clues to an Early Diagnosis of Kallmann Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(11), 2796-2801.

Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis
Sureka, D., & Hudgins, L. (2010). Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis. JOURNAL OF CRANIOFACIAL SURGERY, 21(5), 1346-1349.

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing
Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2010). Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing. CLINICAL CHEMISTRY, 56(8), 1279-1286.

Challenges in the clinical application of whole-genome sequencing
Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., & Greely, H. T. (2010). Challenges in the clinical application of whole-genome sequencing. LANCET, 375(9727), 1749-1751.

Clinical assessment incorporating a personal genome
Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., & Altman, R. B. (2010). Clinical assessment incorporating a personal genome. LANCET, 375(9725), 1525-1535.

Partial ATRX Gene Duplication Causes ATR-X Syndrome
Cohn, D. M., Pagon, R. A., Hudgins, L., Schwartz, C. E., Stevenson, R. E., & Friez, M. J. (2009). Partial ATRX Gene Duplication Causes ATR-X Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A(10), 2317-2320.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
Byrnes, A. M., Racacho, L., Grimsey, A., Hudgins, L., Kwan, A. C., & Bulman, D. E. (2009). Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. EUROPEAN JOURNAL OF HUMAN GENETICS, 17(9), 1112-1120.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
Aldinger, K. A., Lehmann, O. J., Hudgins, L., Chizhikov, V. V., Bassuk, A. G., & Millen, K. J. (2009). FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. NATURE GENETICS, 41(9), 1037-U116.

Preaxial Hallucal Polydactyly as a Marker for Diabetic Embryopathy
Adam, M. P., Hudgins, L., Carey, J. C., Hall, B. D., Coleman, K., & Graham, J. M. (2009). Preaxial Hallucal Polydactyly as a Marker for Diabetic Embryopathy. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 85(1), 13-19.

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay
Adam, M. P., Justice, A. N., Schelley, S., Kwan, A., Hudgins, L., & Martin, C. L. (2009). Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay. JOURNAL OF PEDIATRICS, 154(1), 143-146.

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008). Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 105(42), 16266-16271.

Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
Battaglia, A., Hoyme, H. E., Dallapiccola, B., Zackai, E., Hudgins, L., & Carey, J. C. (2008). Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. PEDIATRICS, 121(2), 404-410.

Use of array-based technology in the practice of medical genetics
Manning, M., & Hudgins, L. (2007). Use of array-based technology in the practice of medical genetics. GENETICS IN MEDICINE, 9(9), 650-653.

Clinical features and management issues in Mowat-Wilson syndrome.
Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., & Hudgins, L. (2006). Clinical features and management issues in Mowat-Wilson syndrome. American journal of medical genetics. Part A, 140(24), 2730-2741.

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., & Hudgins, L. (2006). Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. American journal of medical genetics. Part A, 140(14), 1567-1572.

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
Shieh, J. Tc., Hudgins, L., Cherry, A. M., Shen, Z., & Hoyme, H. E. (2006). Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. American journal of medical genetics. Part A, 140(2), 170-173.

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders
Abdul-Rahman, O. A., & Hudgins, L. (2006). The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. GENETICS IN MEDICINE, 8(1), 50-54.

Terminal deletion of 6p results in a recognizable phenotype
Lin, R. J., Cherry, A. M., Chen, K. C., Lyons, M., Hoyme, H. E., & Hudgins, L. (2005). Terminal deletion of 6p results in a recognizable phenotype. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 136A(2), 162-168.

Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics
Taslimi, M. M., Acosta, R., Chueh, J., Hudgins, L., Hunter, K., & Chitkara, U. (2005). Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics. JOURNAL OF ULTRASOUND IN MEDICINE, 24(6), 811-815.

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
Beck, A. E., Hudgins, L., & Hoyme, H. E. (2005). Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?. American journal of medical genetics. Part A, 134(4), 359-362.

Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defects
Battaglia, A., Chen, Z., Brothman, A. R., Morelli, S., Palumbos, J. C., & Disteche, C. (2005). Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defects. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 134A(3), 334-337.

Clinical and mutational spectrum of Mowat-Wilson Syndrome
Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., & Rauch, A. (2005). Clinical and mutational spectrum of Mowat-Wilson Syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, 48(2), 97-111.

Kabuki syndrome: a review
Adam, M. P., & Hudgins, L. (2005). Kabuki syndrome: a review. CLINICAL GENETICS, 67(3), 209-219.

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype
Chen, K. M., Bird, L., Barnes, P., Barth, R., & Hudgins, L. (2005). Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 133A(2), 115-121.

Developmental outcome in Kabuki syndrome
Vaux, K. K., Jones, K. L., Jones, M. C., Schelley, S., & Hudgins, L. (2005). Developmental outcome in Kabuki syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 132A(3), 263-264.

Neonatal phenotype in Kabuki syndrome
Vaux, K. K., Hudgins, L., Bird, L. M., Roeder, E., Curry, C. Jr., & Jones, K. L. (2005). Neonatal phenotype in Kabuki syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 132A(3), 244-247.

Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
Manning, M. A., Cassidy, S. B., Clericuzio, C., Cherry, A. M., Schwartz, S., & Hoyme, H. E. (2004). Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. PEDIATRICS, 114(2), 451-457.

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
Enns, G. M., Steiner, R. D., Buist, N., Cowan, C., Leppig, K. A., & Hudgins, L. (2002). Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. JOURNAL OF PEDIATRICS, 141(5), 695-700.

Prenatal diagnosis in the adolescent patient.
Traynor, J., & Hudgins, L. (2002). Prenatal diagnosis in the adolescent patient. Adolescent medicine (Philadelphia, Pa.), 13(2), 293-?.

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Morgan, T., McDonald, J., Anderson, C., Ismail, M., Miller, F., & Manning, M. (2002). Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). PEDIATRICS, 109(1).

Congenital hypomyelination neuropathy in a newborn infant: Unusual cause of diaphragmatic and vocal cord paralyses
Hahn, J. S., Henry, M., Hudgins, L., & Madan, A. (2001). Congenital hypomyelination neuropathy in a newborn infant: Unusual cause of diaphragmatic and vocal cord paralyses. PEDIATRICS, 108(5).

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
Rosenberg, M. J., Killoran, C., Dziadzio, L., Chang, S., Stone, D. L., & Biesecker, L. G. (2001). Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. HUMAN GENETICS, 109(3), 311-318.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
Parisi, M. A., Dinulos, M. B., Leppig, K. A., Sybert, V. P., Eng, C., & Hudgins, L. (2001). The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. JOURNAL OF MEDICAL GENETICS, 38(1), 52-58.

Transmission of the dysgnathia complex from mother to daughter
Erlich, M. S., Cunningham, M. L., & Hudgins, L. (2000). Transmission of the dysgnathia complex from mother to daughter. AMERICAN JOURNAL OF MEDICAL GENETICS, 95(3), 269-274.

The pediatric intern retreat: 20-year evolution of a continuing investment
Klein, E. J., Marcuse, E. K., Jackson, J. C., Watkins, S., & Hudgins, L. (2000). The pediatric intern retreat: 20-year evolution of a continuing investment. ACADEMIC MEDICINE, 75(8), 853-857.

Detection of chromosomal aberrations by a whole-genome microsatellite screen
Rosenberg, M. J., Vaske, D., Killoran, C. E., Ning, Y., Wargowski, D., & Biesecker, L. G. (2000). Detection of chromosomal aberrations by a whole-genome microsatellite screen. AMERICAN JOURNAL OF HUMAN GENETICS, 66(2), 419-427.

Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines
Bennett, R. L., Hudgins, L., Smith, C. O., & MOTULSKY, A. G. (1999). Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines. GENETICS IN MEDICINE, 1(6), 286-292.

Phenotypic spectrum and management issues in Kabuki syndrome
Kawame, H., Hannibal, M. C., Hudgins, L., & Pagon, R. A. (1999). Phenotypic spectrum and management issues in Kabuki syndrome. JOURNAL OF PEDIATRICS, 134(4), 480-485.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Gong, Y. Q., Krakow, D., Marcelino, J., Wilkin, D., Chitayat, D., & Warman, M. L. (1999). Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. NATURE GENETICS, 21(3), 302-304.

Expansile bone lesions in a three-generation family
Dinulos, M. B., Sternen, D. L., Graham, C. B., & Hudgins, L. (1999). Expansile bone lesions in a three-generation family. AMERICAN JOURNAL OF MEDICAL GENETICS, 82(1), 1-5.

Phenotypic differences in African Americans with Prader-Willi Syndrome
Hudgins, L., Geer, J. S., & Cassidy, S. B. (1998). Phenotypic differences in African Americans with Prader-Willi Syndrome. GENETICS IN MEDICINE, 1(1), 49-51.

Shprintzen-Goldberg syndrome: A clinical analysis
Greally, M. T., Carey, J. C., Milewicz, D. M., Hudgins, L., Goldberg, R. B., & Hanson, J. W. (1998). Shprintzen-Goldberg syndrome: A clinical analysis. AMERICAN JOURNAL OF MEDICAL GENETICS, 76(3), 202-212.

Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?
Kawame, H., Pagon, R. A., & Hudgins, L. (1997). Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS, 69(3), 240-244.

Characterization of the split hand split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
Crackower, M. A., Scherer, S. W., Rommens, J. M., Hui, C. C., Poorkaj, P., & TSUI, L. C. (1996). Characterization of the split hand split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. HUMAN MOLECULAR GENETICS, 5(5), 571-579.

ISOLATED PERSISTENT HYPERMETHIONINEMIA
Mudd, S. H., Levy, H. L., Tangerman, A., Boujet, C., Buist, N., & WILSON, W. G. (1995). ISOLATED PERSISTENT HYPERMETHIONINEMIA. AMERICAN JOURNAL OF HUMAN GENETICS, 57(4), 882-892.

A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER-LIKE NEONATAL LYMPHEDEMA SUGGESTS THE LOCATION OF A POTENTIAL ANTI-TURNER GENE ON THE Y-CHROMOSOME
Erickson, R. P., Hudgins, L., Stone, J. F., Schmidt, S., Wilke, C., & Glover, T. W. (1995). A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER-LIKE NEONATAL LYMPHEDEMA SUGGESTS THE LOCATION OF A POTENTIAL ANTI-TURNER GENE ON THE Y-CHROMOSOME. CYTOGENETICS AND CELL GENETICS, 71(2), 163-167.

MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18
BOGHOSIANSELL, L., MEWAR, R., Harrison, W., Shapiro, R. M., Zackai, E. H., & Overhauser, J. (1994). MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18. AMERICAN JOURNAL OF HUMAN GENETICS, 55(3), 476-483.

DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE
Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., & Yamanaka, T. (1994). DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 91(11), 4997-5001.

JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE
McCall, C. P., Hudgins, L., Cloutier, M., Greenstein, R. M., & Cassidy, S. B. (1994). JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE. AMERICAN JOURNAL OF MEDICAL GENETICS, 49(3), 328-332.

INTRAVENOUS IMMUNOGLOBULIN THERAPY FOR TOXIC SHOCK SYNDROME
Barry, W., Hudgins, L., Donta, S. T., & Pesanti, E. L. (1992). INTRAVENOUS IMMUNOGLOBULIN THERAPY FOR TOXIC SHOCK SYNDROME. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 267(24), 3315-3316.

EARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY
Hudgins, L., Rosengren, S., Treem, W., & Hyams, J. (1992). EARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY. JOURNAL OF PEDIATRICS, 120(5), 754-756.

HAND AND FOOT LENGTH IN PRADER-WILLI SYNDROME
Hudgins, L., & Cassidy, S. B. (1991). HAND AND FOOT LENGTH IN PRADER-WILLI SYNDROME. AMERICAN JOURNAL OF MEDICAL GENETICS, 41(1), 5-9.

LINKAGE ANALYSIS IN MARFAN-SYNDROME
Schwartz, R. C., Blanton, S. H., HYDE, C. A., SOTTILE, T. R., Hudgins, L., & Tsipouras, P. (1990). LINKAGE ANALYSIS IN MARFAN-SYNDROME. JOURNAL OF MEDICAL GENETICS, 27(2), 86-90.