Louanne Hudgins

Publications

• Best ethical practices for clinicians and laboratories in the provision of non-invasive prenatal testing. Allyse MA, Sayres LC, Havard M, King JS, Greely HT, Hudgins L, Taylor J, Norton ME, Cho MK, Magnus D, Ormond KE. Prenat Diagn. 2013
• Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome. Algaze C, Esplin ED, Lowenthal A, Hudgins L, Tacy TA, Selamet Tierney ES. Am J Med Genet A. 2013
• 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 SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH. Hum Mol Genet. 2013; 22 (1): 1-17
• 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. J Genet Couns. 2013
• Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. Hawkins A, Stenzel A, Taylor J, Chock VY, Hudgins L. J Genet Couns. 2013; 22 (2): 238-48
• Consanguinity and the risk of congenital heart disease. Shieh JT, Bittles AH, Hudgins L. Am J Med Genet A. 2012; 158A (5): 1236-41
• Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. Am J Med Genet A. 2012; 158A (2): 391-9
• Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors. Mills MB, Hudgins L, Balise RR, Abramson DH, Kleinerman RA. Hum Genet. 2012; 131 (7): 1115-22
• Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome? Niemi AK, Kwan A, Hudgins L, Cherry AM, Manning MA. Am J Med Genet A. 2012; 158A (9): 2328-35
• Utilization of available prenatal screening and diagnosis: effects of the California screen program. Blumenfeld YJ, Taylor J, Lee HC, Hudgins L, Sung JF, El-Sayed YY. J Perinatol. 2012; 32 (12): 907-12
• What is your diagnosis? Trichorhinophalangeal syndrome type I. Snyder JR, Berk DR, Kwan A, Hudgins L, Bruckner AL. Cutis. 2012; 89 (2): 56, 73-4
• Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. Hum Mutat. 2011; 32 (4): E2069-78
• Ectopia lentis as the presenting and primary feature in Marfan syndrome. Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Am J Med Genet A. 2011; 155A (11): 2661-8
• Familial cardiac valvulopathy due to filamin A mutation. Bernstein JA, Bernstein D, Hehr U, Hudgins L. Am J Med Genet A. 2011; 155A (9): 2236-41
• Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. Niemi AK, Northrup H, Hudgins L, Bernstein JA. Am J Med Genet A. 2011; 155A (10): 2534-7
• Medical and graduate students' attitudes toward personal genomics. Ormond KE, Hudgins L, Ladd JM, Magnus DM, Greely HT, Cho MK. Genet Med. 2011; 13 (5): 400-8
• Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake. Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Prenat Diagn. 2011; 31 (13): 1292-9
• Nuchal translucency measurement in fetuses with spinal muscular atrophy. Zadeh N, Hudgins L, Norton ME. Prenat Diagn. 2011; 31 (4): 327-30
• A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. Am J Hum Genet. 2010; 87 (5): 631-42
• Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Clin Chem. 2010; 56 (8): 1279-86
• Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, Hudgins L. Genet Med. 2010; 12 (11): 742-5
• Challenges in the clinical application of whole-genome sequencing. Ormond KE, Wheeler MT, Hudgins L, Klein TE, Butte AJ, Altman RB, Ashley EA, Greely HT. Lancet. 2010; 375 (9727): 1749-51
• Clinical assessment incorporating a personal genome. Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Lancet. 2010; 375 (9725): 1525-35
• Clues to an early diagnosis of Kallmann syndrome. Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Am J Med Genet A. 2010; 152A (11): 2796-801
• Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis. Sureka D, Hudgins L. J Craniofac Surg. 2010; 21 (5): 1346-9
• Prenatal genetic screening and diagnosis for pediatricians. Cunniff C, Hudgins L. Curr Opin Pediatr. 2010; 22 (6): 809-13
• Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. Byrnes AM, Racacho L, Grimsey A, Hudgins L, Kwan AC, Sangalli M, Kidd A, Yaron Y, Lau YL, Nikkel SM, Bulman DE. Eur J Hum Genet. 2009; 17 (9): 1112-20
• Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay. Adam MP, Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL. J Pediatr. 2009; 154 (1): 143-6
• FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. Nat Genet. 2009; 41 (9): 1037-42
• Partial ATRX gene duplication causes ATR-X syndrome. Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ. Am J Med Genet A. 2009; 149A (10): 2317-20
• Preaxial hallucal polydactyly as a marker for diabetic embryopathy. Adam MP, Hudgins L, Carey JC, Hall BD, Coleman K, Gripp KW, Perez-Aytes A, Graham JM. Birth Defects Res A Clin Mol Teratol. 2009; 85 (1): 13-9
• Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Braley LL, Zuberi SM, Carey JC. Pediatrics. 2008; 121 (2): 404-10
• Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Proc Natl Acad Sci U S A. 2008; 105 (42): 16266-71
• Use of array-based technology in the practice of medical genetics. Manning M, Hudgins L. Genet Med. 2007; 9 (9): 650-3
• Clinical features and management issues in Mowat-Wilson syndrome. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Am J Med Genet A. 2006; 140 (24): 2730-41
• Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Am J Med Genet A. 2006; 140 (14): 1567-72
• The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Abdul-Rahman OA, Hudgins L. Genet Med. 2006; 8 (1): 50-4
• Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. Am J Med Genet A. 2006; 140 (2): 170-3
• Clinical and mutational spectrum of Mowat-Wilson syndrome. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Eur J Med Genet. 2005 Apr-Jun; 48 (2): 97-111
• Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Beck AE, Hudgins L, Hoyme HE. Am J Med Genet A. 2005; 134 (4): 359-62
• Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics. Taslimi MM, Acosta R, Chueh J, Hudgins L, Hunter K, Druzin ML, Chitkara U. J Ultrasound Med. 2005; 24 (6): 811-5
• Developmental outcome in Kabuki syndrome. Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. Am J Med Genet A. 2005; 132A (3): 263-4
• Kabuki syndrome: a review. Adam MP, Hudgins L. Clin Genet. 2005; 67 (3): 209-19
• Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects. Battaglia A, Chen Z, Brothman AR, Morelli S, Palumbos JC, Carey JC, Hudgins L, Disteche C. Am J Med Genet A. 2005; 134 (3): 334-7
• Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. Chen KM, Bird L, Barnes P, Barth R, Hudgins L. Am J Med Genet A. 2005; 133A (2): 115-21
• Neonatal phenotype in Kabuki syndrome. Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. Am J Med Genet A. 2005; 132A (3): 244-7
• Terminal deletion of 6p results in a recognizable phenotype. Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L. Am J Med Genet A. 2005; 136 (2): 162-8
• Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Pediatrics. 2004; 114 (2): 451-7
• Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. J Pediatr. 2002; 141 (5): 695-700
• Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Pediatrics. 2002; 109 (1): E12
• Prenatal diagnosis in the adolescent patient. Traynor J, Hudgins L. Adolesc Med. 2002; 13 (2): 293-303, vi
• Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses. Hahn JS, Henry M, Hudgins L, Madan A. Pediatrics. 2001; 108 (5): E95
• Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Hum Genet. 2001; 109 (3): 311-8
• The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. J Med Genet. 2001; 38 (1): 52-8
• Detection of chromosomal aberrations by a whole-genome microsatellite screen. Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Am J Hum Genet. 2000; 66 (2): 419-27
• The pediatric intern retreat: 20-year evolution of a continuing investment. Klein EJ, Marcuse EK, Jackson JC, Watkins S, Hudgins L. Acad Med. 2000; 75 (8): 853-7
• Transmission of the dysgnathia complex from mother to daughter. Erlich MS, Cunningham ML, Hudgins L. Am J Med Genet. 2000; 95 (3): 269-74
• Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: the need for practice guidelines. Bennett RL, Hudgins L, Smith CO, Motulsky AG. Genet Med. 1999 Sep-Oct; 1 (6): 286-92
• Expansile bone lesions in a three-generation family. Dinulos MB, Sternen DL, Graham CB, Hudgins L. Am J Med Genet. 1999; 82 (1): 1-5
• Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Nat Genet. 1999; 21 (3): 302-4
• Phenotypic spectrum and management issues in Kabuki syndrome. Kawame H, Hannibal MC, Hudgins L, Pagon RA. J Pediatr. 1999; 134 (4): 480-5
• Phenotypic differerencss in African Americans with Prader-Willi syndrome. Hudgins L, Geer JS, Cassidy SB. Genet Med. 1998 Nov-Dec; 1 (1): 49-51
• Shprintzen-Goldberg syndrome: a clinical analysis. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL, Judisch GF, Hanson JW. Am J Med Genet. 1998; 76 (3): 202-12
• Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome? Kawame H, Pagon RA, Hudgins L. Am J Med Genet. 1997; 69 (3): 240-4
• 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 MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Hum Mol Genet. 1996; 5 (5): 571-9
• 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 RP, Hudgins L, Stone JF, Schmidt S, Wilke C, Glover TW. Cytogenet Cell Genet. 1995; 71 (2): 163-7
• Isolated persistent hypermethioninemia. Mudd SH, Levy HL, Tangerman A, Boujet C, Buist N, Davidson-Mundt A, Hudgins L, Oyanagi K, Nagao M, Wilson WG. Am J Hum Genet. 1995; 57 (4): 882-92
• Jarcho-Levin syndrome: unusual survival in a classical case. McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. Am J Med Genet. 1994; 49 (3): 328-32
• Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. Am J Hum Genet. 1994; 55 (3): 476-83
• Early cirrhosis in survivors with Jeune thoracic dystrophy. Hudgins L, Rosengren S, Treem W, Hyams J. J Pediatr. 1992; 120 (5): 754-6
• Intravenous immunoglobulin therapy for toxic shock syndrome. Barry W, Hudgins L, Donta ST, Pesanti EL. JAMA. 1992; 267 (24): 3315-6
• Hand and foot length in Prader-Willi syndrome. Hudgins L, Cassidy SB. Am J Med Genet. 1991; 41 (1): 5-9
• Linkage analysis in Marfan syndrome. Schwartz RC, Blanton SH, Hyde CA, Sottile TR, Hudgins L, Sarfarazi M, Tsipouras P. J Med Genet. 1990; 27 (2): 86-90