Loading...

Lynne Bird

TitleProfessor Of Clinical
InstitutionUniversity of California San Diego
DepartmentPediatrics
Address9500 Gilman Drive #0984
La Jolla CA 92093
Phone858-966-5840
vCardDownload vCard

    Collapse Biography 
    Collapse Education and Training
    University of California, San Diego, CA06/1994Clinical Genetics/Dysmorphology
    University of California, San Diego, CA06/1991Pediatrics
    Duke University School of Medicine, Durham, NCMD05/1987Medicine

    Collapse Research 
    Collapse Research Activities and Funding
    Angelman Syndrome Natural History Study
    FDA 1R01FD006003-01Sep 15, 2017 - Aug 31, 2022
    Role: Co-Investigator
    Role Description: Site principal investigator for San Diego site
    A Phase II Adult Angelman Syndrome Clinical Trial:A Randomized Double-Blind, Safety and Efficacy Study of Gaboxadol
    Ovid Therapeutics Sep 8, 2016
    Role: Principal Investigator
    Role Description: Principal Investigator of San Diego site

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
    List All   |   Timeline
    1. Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird L, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2018 Jun 07; 102(6):1195-1203. PMID: 29861108.
      View in: PubMed
    2. den Bakker H, Sidorov MS, Fan Z, Lee DJ, Bird L, Chu CJ, Philpot BD. Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. Mol Autism. 2018; 9:32. PMID: 29719672.
      View in: PubMed
    3. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird L, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 Feb; 59(2):389-402. PMID: 29315614.
      View in: PubMed
    4. Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird L, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018 Feb; 176(2):415-420. PMID: 29266745.
      View in: PubMed
    5. Tan WH, Bird L, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 May; 176(5):1099-1107. PMID: 28944563.
      View in: PubMed
    6. Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird L, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 05; 101(4):516-524. PMID: 28942967.
      View in: PubMed
    7. Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird L, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 03; 101(2):206-217. PMID: 28735859.
      View in: PubMed
    8. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird L, Chu CJ, Philpot BD. Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:30. PMID: 28725279.
      View in: PubMed
    9. McCandless SE, Yanovski JA, Miller J, Fu C, Bird L, Salehi P, Chan CL, Stafford D, Abuzzahab MJ, Viskochil D, Barlow SE, Angulo M, Myers SE, Whitman BY, Styne D, Roof E, Dykens EM, Scheimann AO, Malloy J, Zhuang D, Taylor K, Hughes TE, Kim DD, Butler MG. Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial. Diabetes Obes Metab. 2017 Dec; 19(12):1751-1761. PMID: 28556449.
      View in: PubMed
    10. Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird L, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 06; 101(1):139-148. PMID: 28686853.
      View in: PubMed
    11. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird L, Chu CJ, Philpot BD. Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:17. PMID: 28503211.
      View in: PubMed
    12. Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird L, Tang S. Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. Pediatr Dev Pathol. 2017 Jan 01; 1093526617698611. PMID: 29187032.
      View in: PubMed
    13. Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird L, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 05; 100(1):117-127. PMID: 28017373.
      View in: PubMed
    14. Tan WH, Bird L. Angelman syndrome: Current and emerging therapies in 2016. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):384-401. PMID: 27860204.
      View in: PubMed
    15. Bird L, Tan WH. Treatment of genetic disorders-A vision coming into focus. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):311-312. PMID: 27813320.
      View in: PubMed
    16. Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird L, Tang S. Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. Pediatr Dev Pathol. 2016 Aug 04. PMID: 27490173.
      View in: PubMed
    17. Tan WH, Bird L. Pharmacological therapies for Angelman syndrome. Wien Med Wochenschr. 2017 Jun; 167(9-10):205-218. PMID: 26758979.
      View in: PubMed
    18. Omilusik KD, Best JA, Yu B, Goossens S, Weidemann A, Nguyen JV, Seuntjens E, Stryjewska A, Zweier C, Roychoudhuri R, Gattinoni L, Bird L, Higashi Y, Kondoh H, Huylebroeck D, Haigh J, Goldrath AW. Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection. J Exp Med. 2015 Nov 16; 212(12):2027-39. PMID: 26503445.
      View in: PubMed
    19. Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird L, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May; 24(5):652-9. PMID: 26306646; PMCID: PMC4930086 [Available on 05/01/17].
    20. Margolis SS, Sell GL, Zbinden MA, Bird L. Angelman Syndrome. Neurotherapeutics. 2015 Jul; 12(3):641-50. PMID: 26040994; PMCID: PMC4489961.
    21. Barea JJ, van Meel E, Kornfeld S, Bird L. Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. Am J Med Genet A. 2015 Nov; 167A(11):2844-6. PMID: 26108976; PMCID: PMC4708255.
    22. Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird L, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A. 2015 Feb; 167A(2):271-81. PMID: 25394726.
      View in: PubMed
    23. Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird L, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). Clin Genet. 2015 May; 87(5):461-6. PMID: 24805811.
      View in: PubMed
    24. Bird L. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014; 7:93-104. PMID: 24876791; PMCID: PMC4036146.
    25. Tan WH, Bird L, Thibert RL, Williams CA. If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014 Apr; 164A(4):975-92. PMID: 24779060.
      View in: PubMed
    26. Overhoff J, Rabideau MM, Bird L, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW. Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome. Am J Med Genet A. 2014 Jan; 164A(1):259-63. PMID: 24259484.
      View in: PubMed
    27. Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird L, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A. 2013 Dec; 161A(12):2972-80. PMID: 24214728.
      View in: PubMed
    28. Ross MK, Ellis LS, Bird L, Hagood JS. Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. Pediatr Pulmonol. 2014 May; 49(5):508-11. PMID: 24039098.
      View in: PubMed
    29. Tarquinio DC, Jones MC, Jones KL, Bird L. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81. PMID: 22887711.
      View in: PubMed
    30. Bird L, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63. PMID: 22002941; PMCID: PMC3222728.
    31. Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird L, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet. 2011 Jul 15; 89(1):28-43. PMID: 21700266; PMCID: PMC3135802.
    32. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird L. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90. PMID: 21204213; PMCID: PMC3563320.
    33. Hügle B, Hoffman H, Bird L, Gebauer C, Suchowerskyj P, Sack U, Kohlhase J, Schuster V. Hoffman syndrome: New patients, new insights. Am J Med Genet A. 2011 Jan; 155A(1):149-53. PMID: 21204224.
      View in: PubMed
    34. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird L, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601. PMID: 20729760; PMCID: PMC2997715.
    35. Peters SU, Bird L, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. PMID: 20635355; PMCID: PMC3172130.
    36. Blum NJ, Bird L, Stein MT. Global developmental delay in a 10-month-old infant boy. J Dev Behav Pediatr. 2010 Apr; 31(3 Suppl):S46-8. PMID: 20414075.
      View in: PubMed
    37. Sivagnanam M, Janecke AR, Müller T, Heinz-Erian P, Taylor S, Bird L. Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol. 2010 Jan; 19(1):48. PMID: 20009592.
      View in: PubMed
    38. Blum NJ, Bird L, Stein MT. Global developmental delay in a 10-month-old infant boy. J Dev Behav Pediatr. 2009 Feb; 30(1):72-4. PMID: 19218848.
      View in: PubMed
    39. Ho AL, Lefloch N, Levy ML, Bird L. Femoral facial syndrome: a case report with coexistent hydrocephaly. Clin Dysmorphol. 2008 Oct; 17(4):259-63. PMID: 18978654.
      View in: PubMed
    40. Catanzarite V, Gambling D, Bird L, Honold J, Perkins E. Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report. J Reprod Med. 2008 Mar; 53(3):220-2. PMID: 18441730.
      View in: PubMed
    41. Willis MJ, Bird L, Dell'Aquilla M, Jones MC. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6. PMID: 18203170.
      View in: PubMed
    42. Bird L, Sivagnanam M, Taylor S, Newbury RO. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol. 2007 Oct; 16(4):211-21. PMID: 17786112.
      View in: PubMed
    43. Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird L, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics. 2007 Nov; 8(4):279-88. PMID: 17906881.
      View in: PubMed
    44. Sahoo T, Bacino CA, German JR, Shaw CA, Bird L, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. PMID: 17522620.
      View in: PubMed
    45. Izadpanah A, Hogeling M, Buka RL, Eichenfield LF, Bird L. Digitocutaneous dysplasia. J Am Acad Dermatol. 2007 Feb; 56(2 Suppl):S6-9. PMID: 17097382.
      View in: PubMed
    46. Alió AB, Bird L, McClellan SD, Cunningham BB. Sjögren-Larsson syndrome: a case report and literature review. Cutis. 2006 Jul; 78(1):61-5. PMID: 16903323.
      View in: PubMed
    47. Willis MJ, Bird L, Dell'aquilla M, Jones MC. Natural history of prenatally diagnosed 46,X,isodicentric Y. Prenat Diagn. 2006 Feb; 26(2):134-7. PMID: 16463293.
      View in: PubMed
    48. Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird L, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet. 2006 Jun; 43(6):512-6. PMID: 16183798; PMCID: PMC2564536.
    49. Moog U, Jones MC, Bird L, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21. PMID: 15879499; PMCID: PMC1735958.
    50. Chen KM, Bird L, Barnes P, Barth R, Hudgins L. Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. Am J Med Genet A. 2005 Mar 01; 133A(2):115-21. PMID: 15666314.
      View in: PubMed
    51. Vaux KK, Jones MC, Benirschke K, Bird L, Jones KL. Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway? Am J Med Genet A. 2005 Jan 30; 132A(3):314-7. PMID: 15690378.
      View in: PubMed
    52. Vaux KK, Hudgins L, Bird L, Roeder E, Curry CJ, Jones M, Jones KL. Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7. PMID: 15690369.
      View in: PubMed
    53. Kosaki K, Bird L, Maeda J, Higuchi M, Jones MC, Matsumoto M. Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2. PMID: 15150786.
      View in: PubMed
    54. Chan YC, Bird L. Vertically transmitted hypoplasia of the abdominal wall musculature. Clin Dysmorphol. 2004 Jan; 13(1):7-10. PMID: 15127756.
      View in: PubMed
    55. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird L, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec 15; 123A(3):236-42. PMID: 14608643.
      View in: PubMed
    56. Bird L, Dixson B, Masser-Frye D, Mestre L, Ribas L, Mullen L, Kalla K, Carder K, Huslig M, Catanzarite VA, Jones MC. Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18. Prenat Diagn. 2002 Sep; 22(9):792-7. PMID: 12224073.
      View in: PubMed
    57. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird L, 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. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet. 2001 Sep; 109(3):311-8. PMID: 11702212.
      View in: PubMed
    58. Wong LJ, Chen TJ, Dai P, Bird L, Muenke M. Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am J Med Genet. 2001 Aug 15; 102(3):282-5. PMID: 11484208.
      View in: PubMed
    59. Bird L, Mascarello JT. Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature. Am J Med Genet. 2001 Apr 15; 100(1):13-24. PMID: 11337743.
      View in: PubMed
    60. Hoffman HM, Bastian JF, Bird L. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. Clin Dysmorphol. 2001 Jan; 10(1):1-8. PMID: 11152140.
      View in: PubMed
    61. Bird L. Cortical dysgenesis and 22q11 deletion. Clin Dysmorphol. 2001 Jan; 10(1):77. PMID: 11152157.
      View in: PubMed
    62. Bird L, Scambler P. Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. Clin Genet. 2000 Jul; 58(1):64-8. PMID: 10945664.
      View in: PubMed
    63. Naumova AK, Olien L, Bird L, Smith M, Verner AE, Leppert M, Morgan K, Sapienza C. Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human. Eur J Hum Genet. 1998 Nov-Dec; 6(6):552-62. PMID: 9887372.
      View in: PubMed
    64. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird L, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997 Nov; 17(3):305-8. PMID: 9354794.
      View in: PubMed
    65. Bird L, Pretorius DH, Mendoza AE, Jones MC. Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorphol. 1997 Oct; 6(4):351-8. PMID: 9354845.
      View in: PubMed
    66. Bird L, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, Zamora-Salinas R, Morris C, Viskochil D, Frikke MJ, Jones MC. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996 Dec; 129(6):926-31. PMID: 8969740.
      View in: PubMed
    67. Naumova AK, Plenge RM, Bird L, Leppert M, Morgan K, Willard HF, Sapienza C. Heritability of X chromosome--inactivation phenotype in a large family. Am J Hum Genet. 1996 Jun; 58(6):1111-9. PMID: 8651287; PMCID: PMC1915075.
    68. Bird L, Jones MC, Kuppermann N, Huskins WC. Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. Pediatrics. 1996 May; 97(5):739-41. PMID: 8628620.
      View in: PubMed
    69. Braddock SR, Jones KL, Bird L, Villegas I, Jones MC. Anterior cervical hypertrichosis: a dominantly inherited isolated defect. Am J Med Genet. 1995 Feb 13; 55(4):498-9. PMID: 7762594.
      View in: PubMed
    70. Naumova AK, Olien L, Bird L, Slamka C, Fonseca M, Verner AE, Wang M, Leppert M, Morgan K, Sapienza C. Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation. Dev Genet. 1995; 17(3):198-205. PMID: 8565326.
      View in: PubMed
    71. Bird L, Krous HF, Eichenfield LF, Swalwell CI, Jones MC. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet. 1994 Nov 01; 53(2):141-8. PMID: 7856638.
      View in: PubMed
    72. Bird L, Newbury RO, Ruiz-Velasco R, Jones MC. Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline. Am J Med Genet. 1994 Oct 15; 53(1):33-8. PMID: 7802033.
      View in: PubMed
    73. Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC, Vander Kolk C, Bird L. Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26. Genomics. 1994 Jul 15; 22(2):418-24. PMID: 7806229.
      View in: PubMed
    74. Bird L, Anderson NC, Chandler ML, Young RC. The effects of aminophylline and nifedipine on contractility of isolated pregnant human myometrium. Am J Obstet Gynecol. 1987 Jul; 157(1):171-7. PMID: 3605250.
      View in: PubMed