Lynne Bird

Title(s)Professor Of Clinical, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    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
    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
    Description: Principal Investigator of San Diego site

    Collapse ORNG Applications 
    Collapse Clinical Trials

    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study. Obesity (Silver Spring). 2023 Nov 02. Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Goldstone AP, Wilding J, Lah M, Shaikh MG, Littlejohn E, Abuzzahab MJ, Fleischman A, Hirano P, Yen K, Cowen NM, Bhatnagar A, C601/C602 Investigators. PMID: 37919617.
      View in: PubMed   Mentions:    Fields:    
    2. Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance. Am J Med Genet A. 2023 Oct 12. Gomes A, Zapata LF, Galarreta CI, Henderson R, Hoyt E, Swee S, Bird L. PMID: 37822287.
      View in: PubMed   Mentions:    Fields:    
    3. Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes. Am J Med Genet A. 2023 Nov; 191(11):2693-2702. Galarreta CI, Hoyt E, Forero L, Curry CJ, Bird LM. PMID: 37649433.
      View in: PubMed   Mentions:    Fields:    
    4. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn. 2023 Aug 26. Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. PMID: 37632214.
      View in: PubMed   Mentions:    Fields:    
    5. Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition. J Autism Dev Disord. 2023 Aug 15. Gwaltney A, Potter SN, Peters SU, Barbieri-Welge RL, Horowitz LT, Noll LM, Hundley RJ, Bird LM, Tan WH, Sadhwani A, Wheeler A. PMID: 37581718.
      View in: PubMed   Mentions:    Fields:    
    6. Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study. Eur J Paediatr Neurol. 2023 Aug 01; 47:6-12. Keary C, Bird LM, de Wit MC, Hatti S, Heimer G, Heussler H, Kolevzon A, Mathews A, Ochoa-Lubinoff C, Tan WH, Yan Y, Adams M. PMID: 37639777.
      View in: PubMed   Mentions:    Fields:    
    7. Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22. Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis E. PMID: 37495977; PMCID: PMC10373389.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    8. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131. Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. PMID: 37377026; PMCID: PMC10524367.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial. J Clin Endocrinol Metab. 2023 Jun 16; 108(7):1676-1685. Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Abuzzahab J, Barrett T, Lah M, Littlejohn E, Mathew V, Cowen NM, Bhatnagar A, DESTINY PWS Investigators . PMID: 36639249; PMCID: PMC10271219.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCTClinical Trials
    10. Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. J Clin Endocrinol Metab. 2023 Jun 16; 108(7):1696-1708. Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. PMID: 36633570; PMCID: PMC10271225.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    11. Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases. Am J Med Genet A. 2023 10; 191(10):2602-2609. Guo R, Rippert AL, Cook EB, Alves CAP, Bird LM, Izumi K. PMID: 37159414; PMCID: PMC10527330.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Health-related quality of life and medication use among individuals with Angelman syndrome. Qual Life Res. 2023 Jul; 32(7):2059-2067. Khan N, Cabo R, Burdine RD, Tan WH, Keary CJ, Ochoa-Lubinoff C, Bird LM, STARS Investigators. PMID: 37039911.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2023 Jan 13; 6(1):41. Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36639573.
      View in: PubMed   Mentions:
    14. Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2023 Jan 10; 6(1):24. Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36627373.
      View in: PubMed   Mentions:
    15. Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2022 Dec 15; 5(1):1374. Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36522453.
      View in: PubMed   Mentions: 2  
    16. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Mol Psychiatry. 2023 02; 28(2):668-697. Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. PMID: 36385166; PMCID: PMC9908558.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    17. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain. 2022 09 14; 145(9):3308-3327. Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. PMID: 35851598; PMCID: PMC9473360.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    18. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Hum Mutat. 2022 10; 43(10):1377-1395. van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. PMID: 35730652; PMCID: PMC9544731.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion. Brain. 2022 06 30; 145(6):1939-1948. Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. PMID: 35773235; PMCID: PMC9630660.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. The Efficacy, Safety, and Pharmacology of a Ghrelin O-Acyltransferase Inhibitor for the Treatment of Prader-Willi Syndrome. J Clin Endocrinol Metab. 2022 05 17; 107(6):e2373-e2380. Miller JL, Lacroix A, Bird LM, Shoemaker AH, Haqq A, Deal CL, Clark KA, Ames MH, Suico JG, de la Peña A, Fortier C. PMID: 35213714; PMCID: PMC10061054.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome. Brain Commun. 2022; 4(3):fcac106. Spencer ER, Shi W, Komorowski RW, Gilbert JP, Ostrowski LM, Bird LM, Thibert R, Bao C, Molloy F, Calhoun M, Koirala S, Jafar-Nejad P, Rigo F, Kramer MA, Chu CJ. PMID: 35611307; PMCID: PMC9123847.
      View in: PubMed   Mentions: 3  
    22. A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies. Am J Med Genet A. 2022 07; 188(7):2242-2245. Keyser MN, Huang M, Newton K, Benador N, Beauchamp-Walters J, Bird LM. PMID: 35362211.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    23. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843. Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. PMID: 35150089; PMCID: PMC8922964.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    24. Anxiety in Angelman Syndrome. Am J Intellect Dev Disabil. 2022 01 01; 127(1):1-10. Grebe SC, Limon DL, McNeel MM, Guzick A, Peters SU, Tan WH, Sadhwani A, Bacino CA, Bird LM, Samaco RC, Berry LN, Goodman WK, Schneider SC, Storch EA. PMID: 34979033; PMCID: PMC8803540.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    25. Response to Hamosh et al. Am J Hum Genet. 2021 09 02; 108(9):1809-1810. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. PMID: 34478656; PMCID: PMC8456172.
      View in: PubMed   Mentions:    Fields:    
    26. Clinical Characterization of Epilepsy in Children With Angelman Syndrome. Pediatr Neurol. 2021 11; 124:42-50. Cassater D, Bustamante M, Sach-Peltason L, Rotenberg A, Nespeca M, Tan WH, Bird LM, Hipp JF. PMID: 34536900; PMCID: PMC8500934.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCTClinical Trials
    27. Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model. Child Psychiatry Hum Dev. 2021 08; 52(4):654-668. Willgoss T, Cassater D, Connor S, Krishnan ML, Miller MT, Dias-Barbosa C, Phillips D, McCormack J, Bird LM, Burdine RD, Claridge S, Bichell TJ. PMID: 32880036; PMCID: PMC8238699.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    28. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37. Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. PMID: 34388423; PMCID: PMC8429141.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    29. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Mol Genet Genomic Med. 2021 07; 9(7):e1623. Friedman J, Bird LM, Haas R, Robbins SL, Nahas SA, Dimmock DP, Yousefzadeh MJ, Witt MA, Niedernhofer LJ, Chowdhury S. PMID: 34076366; PMCID: PMC8372079.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    30. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. Am J Med Genet A. 2021 10; 185(10):2863-2872. Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. PMID: 34050707.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    31. Delta power robustly predicts cognitive function in Angelman syndrome. Ann Clin Transl Neurol. 2021 07; 8(7):1433-1445. Ostrowski LM, Spencer ER, Bird LM, Thibert R, Komorowski RW, Kramer MA, Chu CJ. PMID: 34047077; PMCID: PMC8283185.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCTClinical Trials
    32. Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity. Biol Psychiatry Glob Open Sci. 2021 Sep; 1(3):201-209. Hipp JF, Frohlich J, Keute M, Tan WH, Bird LM. PMID: 34841387; PMCID: PMC8622755.
      View in: PubMed   Mentions: 5  
    33. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, CAUSES Study, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, SPARK Consortium, Earl RK, Nowakowski T, Bernier RA, Eichler EE. PMID: 33874999; PMCID: PMC8056596.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    34. Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III. J Autism Dev Disord. 2023 Feb; 53(2):720-737. Sadhwani A, Wheeler A, Gwaltney A, Peters SU, Barbieri-Welge RL, Horowitz LT, Noll LM, Hundley RJ, Bird LM, Tan WH. PMID: 33517526; PMCID: PMC8322148.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    35. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. PMID: 33417889; PMCID: PMC7820621.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    36. The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 02 16; 96(7):e1024-e1035. Bird LM, Ochoa-Lubinoff C, Tan WH, Heimer G, Melmed RD, Rakhit A, Visootsak J, During MJ, Holcroft C, Burdine RD, Kolevzon A, Thibert RL. PMID: 33443117; PMCID: PMC8055330.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    37. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952. Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators. PMID: 33157007; PMCID: PMC7675004.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    38. Erratum: High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome. Neurosci Conscious. 2020; 2020(1):niaa021. Frohlich J, Bird LM, Dell'Italia J, Johnson MA, Hipp JF, Monti MM. PMID: 33042582; PMCID: PMC7533426.
      View in: PubMed   Mentions: 2  
    39. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021 07; 26(7):3625-3633. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. PMID: 32792659; PMCID: PMC8505254.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    40. Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. Am J Med Genet A. 2020 08; 182(8):1890-1895. Rohanizadegan M, Tracy S, Galarreta CI, Poorvu T, Buchmiller TL, Bird LM, Estroff JA, Tan WH. PMID: 32573094.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    41. High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome. Neurosci Conscious. 2020; 2020(1):niaa005. Frohlich J, Bird LM, Dell'Italia J, Johnson MA, Hipp JF, Monti MM. PMID: 32551137; PMCID: PMC7293820.
      View in: PubMed   Mentions: 6  
    42. Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. Am J Med Genet A. 2020 09; 182(9):2021-2026. Gomez DA, Bird LM, Fleischer N, Abdul-Rahman OA. PMID: 32524756.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    43. Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. Am J Med Genet A. 2020 06; 182(6):1351-1363. Galarreta CI, Vaida F, Bird LM. PMID: 32250545.
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    44. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610. Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. PMID: 32243864; PMCID: PMC7212265.
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    45. Leiomyosarcoma in Birt-Hogg-Dubé Syndrome. J Pediatr Hematol Oncol. 2020 03; 42(2):136-137. Bird LM, Kuo DJ, Masser-Frye D, Mo JQ, Elster JD. PMID: 31929385.
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    46. Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants. J Intellect Disabil Res. 2020 03; 64(3):246-250. Sadhwani A, Willen JM, Miller H, Barbieri-Welge R, Horowitz LT, Noll LM, Peters S, Hundley R, Bird LM, Tan WH. PMID: 31854050; PMCID: PMC8020893.
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    47. Rare SUZ12 variants commonly cause an overgrowth phenotype. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):532-547. Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E, C.A.U.S.E.S. Study, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. PMID: 31736240.
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    48. An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. Orphanet J Rare Dis. 2019 11 04; 14(1):239. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. PMID: 31684986; PMCID: PMC6829925.
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    49. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. PMID: 31640736; PMCID: PMC6806546.
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    50. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537. Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C. PMID: 31578471; PMCID: PMC9063678.
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    51. Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome. Mol Genet Genomic Med. 2019 09; 7(9):e837. Carson RP, Bird L, Childers AK, Wheeler F, Duis J. PMID: 31400086; PMCID: PMC6732290.
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    52. Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. Am J Med Genet A. 2019 08; 179(8):1543-1546. Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. PMID: 31207089; PMCID: PMC7254578.
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    53. Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. Mol Genet Genomic Med. 2019 07; 7(7):e00734. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. PMID: 31090212; PMCID: PMC6625091.
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    54. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. PMID: 31079897; PMCID: PMC6556837.
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    55. Maladaptive behaviors in individuals with Angelman syndrome. Am J Med Genet A. 2019 06; 179(6):983-992. Sadhwani A, Willen JM, LaVallee N, Stepanians M, Miller H, Peters SU, Barbieri-Welge RL, Horowitz LT, Noll LM, Hundley RJ, Bird LM, Tan WH. PMID: 30942555; PMCID: PMC8407596.
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    56. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 03; 21(3):764-765. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30275510; PMCID: PMC7608433.
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    57. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551. Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. PMID: 30719864; PMCID: PMC6454923.
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    58. Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes. Biol Psychiatry. 2019 05 01; 85(9):752-759. Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF. PMID: 30826071; PMCID: PMC6482952.
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    59. Identifying facial phenotypes of genetic disorders using deep learning. Nat Med. 2019 01; 25(1):60-64. Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, Basel-Salmon L, Krawitz PM, Kamphausen SB, Zenker M, Bird LM, Gripp KW. PMID: 30617323.
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    60. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. PMID: 30614194; PMCID: PMC6367950.
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    61. An audit of antimicrobial prescribing by dental practitioners in the north east of England and Cumbria. BMC Oral Health. 2018 12 10; 18(1):206. Sturrock A, Landes D, Robson T, Bird L, Ojelabi A, Ling J. PMID: 30526584; PMCID: PMC6288968.
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    62. Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A. 2018 11; 176(11):2419-2424. Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. PMID: 30246918; PMCID: PMC6289778.
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    63. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 04; 21(4):867-876. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30190611; PMCID: PMC6752285.
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    64. 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 06 07; 102(6):1195-1203. 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, Deciphering Developmental Disorders Study, 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 LM, 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. PMID: 29861108; PMCID: PMC5992133.
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    65. Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. Mol Autism. 2018; 9:32. den Bakker H, Sidorov MS, Fan Z, Lee DJ, Bird LM, Chu CJ, Philpot BD. PMID: 29719672; PMCID: PMC5924514.
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    66. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. 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 LM, 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. PMID: 29315614; PMCID: PMC5912688.
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    67. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018 02; 176(2):415-420. Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. PMID: 29266745.
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    68. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. Tan WH, Bird LM, 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. PMID: 28944563; PMCID: PMC5867193.
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    69. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 05; 101(4):516-524. 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 LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. PMID: 28942967; PMCID: PMC5630160.
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    70. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 03; 101(2):206-217. 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 LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. PMID: 28735859; PMCID: PMC5544382.
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    71. Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:30. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. PMID: 28725279; PMCID: PMC5514461.
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    72. Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial. Diabetes Obes Metab. 2017 12; 19(12):1751-1761. McCandless SE, Yanovski JA, Miller J, Fu C, Bird LM, 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. PMID: 28556449; PMCID: PMC5673540.
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    73. 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. Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, 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, Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. PMID: 28686853; PMCID: PMC5501873.
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    74. Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:17. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. PMID: 28503211; PMCID: PMC5422949.
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    75. 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. 2018 May-Jun; 21(3):319-323. Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S. PMID: 29187032.
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    76. 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. Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, 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. PMID: 28017373; PMCID: PMC5223027.
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    77. Angelman syndrome: Current and emerging therapies in 2016. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):384-401. Tan WH, Bird LM. PMID: 27860204.
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    78. Treatment of genetic disorders-A vision coming into focus. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):311-312. Bird LM, Tan WH. PMID: 27813320.
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    79. 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. Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S. PMID: 27490173.
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    80. Pharmacological therapies for Angelman syndrome. Wien Med Wochenschr. 2017 Jun; 167(9-10):205-218. Tan WH, Bird LM. PMID: 26758979.
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    81. 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. Omilusik KD, Best JA, Yu B, Goossens S, Weidemann A, Nguyen JV, Seuntjens E, Stryjewska A, Zweier C, Roychoudhuri R, Gattinoni L, Bird LM, Higashi Y, Kondoh H, Huylebroeck D, Haigh J, Goldrath AW. PMID: 26503445; PMCID: PMC4647262.
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    82. 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. 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 LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. PMID: 26306646; PMCID: PMC4930086.
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    83. Angelman Syndrome. Neurotherapeutics. 2015 Jul; 12(3):641-50. Margolis SS, Sell GL, Zbinden MA, Bird LM. PMID: 26040994; PMCID: PMC4489961.
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    84. 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. Barea JJ, van Meel E, Kornfeld S, Bird LM. PMID: 26108976; PMCID: PMC4708255.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    85. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A. 2015 Feb; 167A(2):271-81. Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. PMID: 25394726; PMCID: PMC5589071.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    86. 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. Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, 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. PMID: 24805811.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    87. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014; 7:93-104. Bird LM. PMID: 24876791; PMCID: PMC4036146.
      View in: PubMed   Mentions: 82  
    88. If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014 Apr; 164A(4):975-92. Tan WH, Bird LM, Thibert RL, Williams CA. PMID: 24779060.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    89. 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. Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW. PMID: 24259484.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    90. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A. 2013 12; 161A(12):2972-80. Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, 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, Childhood Overgrowth Consortium, Rahman N. PMID: 24214728.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    91. Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. Pediatr Pulmonol. 2014 May; 49(5):508-11. Ross MK, Ellis LS, Bird LM, Hagood JS. PMID: 24039098.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    92. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81. Tarquinio DC, Jones MC, Jones KL, Bird LM. PMID: 22887711.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    93. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63. Bird LM, 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. PMID: 22002941; PMCID: PMC3222728.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCellsCTClinical Trials
    94. 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. Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, 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. PMID: 21700266; PMCID: PMC3135802.
      View in: PubMed   Mentions: 128     Fields:    Translation:HumansCells
    95. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90. 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 LM. PMID: 21204213; PMCID: PMC3563320.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansCells
    96. Hoffman syndrome: New patients, new insights. Am J Med Genet A. 2011 Jan; 155A(1):149-53. Hügle B, Hoffman H, Bird LM, Gebauer C, Suchowerskyj P, Sack U, Kohlhase J, Schuster V. PMID: 21204224.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    97. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601. 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 LM, Peters SU. PMID: 20729760; PMCID: PMC2997715.
      View in: PubMed   Mentions: 57     Fields:    Translation:HumansCells
    98. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. Peters SU, Bird LM, 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. PMID: 20635355; PMCID: PMC3172130.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    99. Global developmental delay in a 10-month-old infant boy. J Dev Behav Pediatr. 2010 Apr; 31(3 Suppl):S46-8. Blum NJ, Bird LM, Stein MT. PMID: 20414075.
      View in: PubMed   Mentions:    Fields:    
    100. Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol. 2010 Jan; 19(1):48. Sivagnanam M, Janecke AR, Müller T, Heinz-Erian P, Taylor S, Bird LM. PMID: 20009592; PMCID: PMC6709868.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    101. Global developmental delay in a 10-month-old infant boy. J Dev Behav Pediatr. 2009 Feb; 30(1):72-4. Blum NJ, Bird LM, Stein MT. PMID: 19218848.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    102. Femoral facial syndrome: a case report with coexistent hydrocephaly. Clin Dysmorphol. 2008 Oct; 17(4):259-63. Ho AL, Lefloch N, Levy ML, Bird LM. PMID: 18978654.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    103. 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. Catanzarite V, Gambling D, Bird LM, Honold J, Perkins E. PMID: 18441730.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    104. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6. Willis MJ, Bird LM, Dell'Aquilla M, Jones MC. PMID: 18203170.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    105. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol. 2007 Oct; 16(4):211-21. Bird LM, Sivagnanam M, Taylor S, Newbury RO. PMID: 17786112.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    106. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics. 2007 Nov; 8(4):279-88. Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. PMID: 17906881.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    107. 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. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. PMID: 17522620.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCells
    108. Digitocutaneous dysplasia. J Am Acad Dermatol. 2007 Feb; 56(2 Suppl):S6-9. Izadpanah A, Hogeling M, Buka RL, Eichenfield LF, Bird LM. PMID: 17097382.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    109. Sjögren-Larsson syndrome: a case report and literature review. Cutis. 2006 Jul; 78(1):61-5. Alió AB, Bird LM, McClellan SD, Cunningham BB. PMID: 16903323.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    110. Natural history of prenatally diagnosed 46,X,isodicentric Y. Prenat Diagn. 2006 Feb; 26(2):134-7. Willis MJ, Bird LM, Dell'aquilla M, Jones MC. PMID: 16463293.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    111. 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. Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. PMID: 16183798; PMCID: PMC2564536.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    112. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21. Moog U, Jones MC, Bird LM, Dobyns WB. PMID: 15879499; PMCID: PMC1735958.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    113. Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. Am J Med Genet A. 2005 Mar 01; 133A(2):115-21. Chen KM, Bird L, Barnes P, Barth R, Hudgins L. PMID: 15666314.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    114. Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7. Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. PMID: 15690369.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    115. 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. Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL. PMID: 15690378.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    116. Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2. Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. PMID: 15150786.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    117. Vertically transmitted hypoplasia of the abdominal wall musculature. Clin Dysmorphol. 2004 Jan; 13(1):7-10. Chan YC, Bird LM. PMID: 15127756.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    118. 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. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. PMID: 14608643.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    119. 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. Bird LM, Dixson B, Masser-Frye D, Mestre L, Ribas L, Mullen L, Kalla K, Carder K, Huslig M, Catanzarite VA, Jones MC. PMID: 12224073.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    120. 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. 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. PMID: 11702212.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    121. 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. Wong LJ, Chen TJ, Dai P, Bird L, Muenke M. PMID: 11484208.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    122. 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. Bird LM, Mascarello JT. PMID: 11337743.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    123. Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p. J Med Genet. 2001 Mar; 38(3):182-5. Vitale E, Brancolini V, De Rienzo A, Bird L, Allada V, Sklansky M, Chae CU, Ferrero GB, Weber J, Devoto M, Casey B. PMID: 11303511; PMCID: PMC1734820.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    124. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. Clin Dysmorphol. 2001 Jan; 10(1):1-8. Hoffman HM, Bastian JF, Bird LM. PMID: 11152140.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    125. Cortical dysgenesis and 22q11 deletion. Clin Dysmorphol. 2001 Jan; 10(1):77. Bird LM. PMID: 11152157.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    126. Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. Clin Genet. 2000 Jul; 58(1):64-8. Bird LM, Scambler P. PMID: 10945664.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    127. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online. Hum Mutat. 1999; 13(2):171-2. Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E. PMID: 10094560.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    128. 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. Naumova AK, Olien L, Bird LM, Smith M, Verner AE, Leppert M, Morgan K, Sapienza C. PMID: 9887372.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    129. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997 Nov; 17(3):305-8. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. PMID: 9354794.
      View in: PubMed   Mentions: 100     Fields:    Translation:HumansCells
    130. Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorphol. 1997 Oct; 6(4):351-8. Bird LM, Pretorius DH, Mendoza AE, Jones MC. PMID: 9354845.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    131. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996 Dec; 129(6):926-31. Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, Zamora-Salinas R, Morris C, Viskochil D, Frikke MJ, Jones MC. PMID: 8969740.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    132. Heritability of X chromosome--inactivation phenotype in a large family. Am J Hum Genet. 1996 Jun; 58(6):1111-9. Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C. PMID: 8651287; PMCID: PMC1915075.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    133. Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. Pediatrics. 1996 May; 97(5):739-41. Bird LM, Jones MC, Kuppermann N, Huskins WC. PMID: 8628620.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    134. Anterior cervical hypertrichosis: a dominantly inherited isolated defect. Am J Med Genet. 1995 Feb 13; 55(4):498-9. Braddock SR, Jones KL, Bird LM, Villegas I, Jones MC. PMID: 7762594.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    135. Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation. Dev Genet. 1995; 17(3):198-205. Naumova AK, Olien L, Bird LM, Slamka C, Fonseca M, Verner AE, Wang M, Leppert M, Morgan K, Sapienza C. PMID: 8565326.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    136. 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. Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC. PMID: 7856638.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    137. 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. Bird LM, Newbury RO, Ruiz-Velasco R, Jones MC. PMID: 7802033.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    138. Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26. Genomics. 1994 Jul 15; 22(2):418-24. Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC, Vander Kolk C, Bird LM, et al. PMID: 7806229.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    139. The effects of aminophylline and nifedipine on contractility of isolated pregnant human myometrium. Am J Obstet Gynecol. 1987 Jul; 157(1):171-7. Bird LM, Anderson NC, Chandler ML, Young RC. PMID: 3605250.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
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