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Barbara R. Pober, M.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. M01RR006022 (KESSLER, DAVID A) Dec 1, 1989 - Nov 30, 2004
    NIH/NCRR
    GENERAL CLINICAL RESEARCH CENTER
    Role: Co-Principal Investigator
  2. F32NS007925 (POBER, BARBARA R) Dec 19, 1985
    NIH/NINDS
    ANTICONVULSANT EPILEPSY TERATOGENICITY
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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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. Lugo M, Wong ZC, Billington CJ, Parrish PCR, Muldoon G, Liu D, Pober BR, Kozel BA. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome. Am J Med Genet A. 2020 Feb 20. PMID: 32077592.
    Citations:    
  2. Thom RP, Keary CJ, Waxler JL, Pober BR, McDougle CJ. Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series. J Autism Dev Disord. 2020 Feb; 50(2):676-682. PMID: 31724120.
    Citations:    
  3. Yu E, Feinn R, Bona R, Brink B, Sindhar S, Kozel BA, Pober BR. Mild macrocytosis in Williams-Beuren syndrome. Eur J Med Genet. 2020 Mar; 63(3):103740. PMID: 31419598.
    Citations:    
  4. Shaikh S, Waxler JL, Lee H, Grinke K, Garry J, Pober BR, Stanley TL. Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome. Clin Endocrinol (Oxf). 2018 11; 89(5):596-604. PMID: 30099760.
    Citations:    Fields:    
  5. Anglani F, Terrin L, Brugnara M, Battista M, Cantaluppi V, Ceol M, Bertoldi L, Valle G, Joy MP, Pober BR, Longoni M. Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet. 2018 07; 94(1):187-188. PMID: 29532936.
    Citations:    Fields:    
  6. Valdes F, Keary CJ, Mullett JE, Palumbo ML, Waxler JL, Pober BR, McDougle CJ. Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series. J Autism Dev Disord. 2018 03; 48(3):947-952. PMID: 29164439.
    Citations:    Fields:    
  7. Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA. Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. PMID: 28703452.
    Citations:    Fields:    
  8. Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Am J Med Genet A. 2017 Aug; 173(8):2235-2239. PMID: 28574231.
    Citations:    Fields:    Translation:HumansCells
  9. Walton JR, Martens MA, Pober BR. The proceedings of the 15th professional conference on Williams Syndrome. Am J Med Genet A. 2017 May; 173(5):1159-1171. PMID: 28371210.
    Citations: 1     Fields:    Translation:HumansCells
  10. Waxler JL, Guardino C, Feinn RS, Lee H, Pober BR, Stanley TL. Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report. Eur J Med Genet. 2017 05; 60(5):250-256. PMID: 28254647.
    Citations: 1     Fields:    Translation:Humans
  11. Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Hypercalcemia in Patients with Williams-Beuren Syndrome. J Pediatr. 2016 Nov; 178:254-260.e4. PMID: 27574996.
    Citations: 2     Fields:    Translation:Humans
  12. McGrath LM, Oates JM, Dai YG, Dodd HF, Waxler J, Clements CC, Weill S, Hoffnagle A, Anderson E, MacRae R, Mullett J, McDougle CJ, Pober BR, Smoller JW. Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome. J Autism Dev Disord. 2016 06; 46(6):2174-2185. PMID: 26886469.
    Citations: 1     Fields:    Translation:Humans
  13. Copes LE, Pober BR, Terilli CA. Description of common musculoskeletal findings in Williams Syndrome and implications for therapies. Clin Anat. 2016 Jul; 29(5):578-89. PMID: 26749433.
    Citations:    Fields:    Translation:Humans
  14. Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, Donahoe PK. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A. 2014 Aug 26; 111(34):12450-5. PMID: 25107291.
    Citations: 9     Fields:    Translation:HumansAnimals
  15. Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Skin findings in Williams syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2217-25. PMID: 24920525.
    Citations: 2     Fields:    Translation:Humans
  16. Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR, Donahoe PK. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet. 2015 Apr; 87(4):362-7. PMID: 24702427.
    Citations: 12     Fields:    Translation:HumansCells
  17. Koehler U, Pabst B, Pober B, Kozel B. Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]. Eur J Hum Genet. 2014 Sep; 22(9). PMID: 24569604.
    Citations: 4     Fields:    Translation:HumansCells
  18. Pineiro ML, Roberts AM, Waxler JL, Mullett JE, Pober BR, McDougle CJ. N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome. J Child Neurol. 2014 Nov; 29(11):NP135-8. PMID: 24396132.
    Citations: 1     Fields:    Translation:Humans
  19. Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Hypertension. 2014 Jan; 63(1):74-9. PMID: 24126171.
    Citations: 11     Fields:    Translation:Humans
  20. Li W, Li Q, Qin L, Ali R, Qyang Y, Tassabehji M, Pober BR, Sessa WC, Giordano FJ, Tellides G. Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency. Arterioscler Thromb Vasc Biol. 2013 May; 33(5):1028-35. PMID: 23493289.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  21. Waxler JL, Cherniske EM, Dieter K, Herd P, Pober BR. Hearing from parents: the impact of receiving the diagnosis of Williams syndrome in their child. Am J Med Genet A. 2013 Mar; 161A(3):534-41. PMID: 23401422.
    Citations: 3     Fields:    Translation:Humans
  22. Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet. 2013 Apr 15; 22(8):1654-62. PMID: 23335590.
    Citations: 13     Fields:    Translation:Humans
  23. Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A. 2012 Dec; 158A(12):3148-58. PMID: 23165946.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  24. Waxler JL, O'Brien KE, Delahanty LM, Meigs JB, Florez JC, Park ER, Pober BR, Grant RW. Genetic counseling as a tool for type 2 diabetes prevention: a genetic counseling framework for common polygenetic disorders. J Genet Couns. 2012 Oct; 21(5):684-91. PMID: 22302620.
    Citations: 13     Fields:    Translation:Humans
  25. Ackerman KG, Vargas SO, Wilson JA, Jennings RW, Kozakewich HP, Pober BR. Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients. Pediatr Dev Pathol. 2012 Jul-Aug; 15(4):265-74. PMID: 22257294.
    Citations: 6     Fields:    Translation:Humans
  26. Russell MK, Longoni M, Wells J, Maalouf FI, Tracy AA, Loscertales M, Ackerman KG, Pober BR, Lage K, Bult CJ, Donahoe PK. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A. 2012 Feb 21; 109(8):2978-83. PMID: 22315423.
    Citations: 23     Fields:    Translation:AnimalsCells
  27. Albers J, Schulze J, Beil FT, Gebauer M, Baranowsky A, Keller J, Marshall RP, Wintges K, Friedrich FW, Priemel M, Schilling AF, Rueger JM, Cornils K, Fehse B, Streichert T, Sauter G, Jakob F, Insogna KL, Pober B, Knobeloch KP, Francke U, Amling M, Schinke T. Control of bone formation by the serpentine receptor Frizzled-9. J Cell Biol. 2011 Mar 21; 192(6):1057-72. PMID: 21402791.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  28. Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 2010 Oct; 152A(10):2493-504. PMID: 20799323.
    Citations: 13     Fields:    Translation:HumansCells
  29. Caspers KM, Oltean C, Romitti PA, Sun L, Pober BR, Rasmussen SA, Yang W, Druschel C. Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol. 2010 Dec; 88(12):1040-9. PMID: 20842650.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  30. Qidwai K, Pearson DM, Patel GS, Pober BR, Immken LL, Cheung SW, Scott DA. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A. 2010 Jun; 152A(6):1588-90. PMID: 20503342.
    Citations: 3     Fields:    Translation:HumansCells
  31. Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, Osborne LR, Dzuria J, Gulanski B. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010 May 15; 154C(2):291-8. PMID: 20425788.
    Citations: 7     Fields:    Translation:Humans
  32. Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK. Pulmonary function and emphysema in Williams-Beuren syndrome. Am J Med Genet A. 2010 Mar; 152A(3):653-6. PMID: 20186780.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  33. Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21; 362(3):239-52. PMID: 20089974.
    Citations: 143     Fields:    Translation:Humans
  34. Waxler JL, Levine K, Pober BR. Williams syndrome: a multidisciplinary approach to care. Pediatr Ann. 2009 Aug; 38(8):456-63. PMID: 19711883.
    Citations: 2     Fields:    Translation:Humans
  35. Pober BR, Longoni M, Noonan KM. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1):76-81. PMID: 19089858.
    Citations: 19     Fields:    Translation:Humans
  36. Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 Jul 15; 146A(14):1842-7. PMID: 18553518.
    Citations: 13     Fields:    Translation:HumansCells
  37. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jul; 10(7):469-94. PMID: 18580689.
    Citations: 20     Fields:    Translation:HumansCells
  38. Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008 Jul; 74(1):1-15. PMID: 18510546.
    Citations: 23     Fields:    Translation:HumansAnimals
  39. Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest. 2008 May; 118(5):1606-15. PMID: 18452001.
    Citations: 39     Fields:    Translation:HumansAnimals
  40. Yang W, Shaw GM, Carmichael SL, Rasmussen SA, Waller DK, Pober BR, Anderka M. Nutrient intakes in women and congenital diaphragmatic hernia in their offspring. Birth Defects Res A Clin Mol Teratol. 2008 Mar; 82(3):131-8. PMID: 18181217.
    Citations: 8     Fields:    Translation:Humans
  41. Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15; 145C(3):280-90. PMID: 17639596.
    Citations: 20     Fields:    Translation:Humans
  42. Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug; 39(8):957-9. PMID: 17632512.
    Citations: 86     Fields:    Translation:HumansCells
  43. Pober BR. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):158-71. PMID: 17436298.
    Citations: 35     Fields:    Translation:HumansCells
  44. Ackerman KG, Pober BR. Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):105-8. PMID: 17436306.
    Citations: 15     Fields:    Translation:HumansCells
  45. Lin AE, Pober BR, Adatia I. Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):201-16. PMID: 17436301.
    Citations: 9     Fields:    Translation:HumansAnimals
  46. Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet A. 2006 Dec 15; 140(24):2721-9. PMID: 17103440.
    Citations: 7     Fields:    Translation:HumansCells
  47. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr; 8(2):131-5. PMID: 17136396.
    Citations: 7     Fields:    Translation:HumansCells
  48. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006 Jan 01; 140(1):17-23. PMID: 16333846.
    Citations: 22     Fields:    Translation:HumansCells
  49. Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec 15; 139(3):186-93. PMID: 16283673.
    Citations: 8     Fields:    Translation:Humans
  50. Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet. 2005 Dec; 77(6):999-1010. PMID: 16380911.
    Citations: 42     Fields:    Translation:HumansCells
  51. Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A. 2005 Oct 01; 138A(2):81-8. PMID: 16094667.
    Citations: 24     Fields:    Translation:Humans
  52. Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet. 2005 Jul; 1(1):58-65. PMID: 16103912.
    Citations: 58     Fields:    
  53. Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005 Feb 22; 102(8):2975-9. PMID: 15684060.
    Citations: 22     Fields:    Translation:Humans
  54. Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. 2004 Dec 15; 131(3):255-64. PMID: 15534874.
    Citations: 50     Fields:    Translation:Humans
  55. Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR. Fetal stroke. Pediatr Neurol. 2004 Mar; 30(3):151-62. PMID: 15033196.
    Citations: 11     Fields:    Translation:Humans
  56. Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet A. 2004 Jan 30; 124A(3):280-7. PMID: 14708101.
    Citations: 11     Fields:    Translation:HumansCells
  57. Bizzarro MJ, Copel JA, Pearson HA, Pober B, Bhandari V. Pulmonary hypoplasia and persistent pulmonary hypertension in the newborn with homozygous alpha-thalassemia: a case report and review of the literature. J Matern Fetal Neonatal Med. 2003 Dec; 14(6):411-6. PMID: 15061322.
    Citations: 1     Fields:    Translation:Humans
  58. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72. PMID: 12690205.
    Citations: 54     Fields:    Translation:HumansAnimalsCells
  59. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct; 32(2):285-9. PMID: 12219090.
    Citations: 214     Fields:    Translation:HumansAnimalsCells
  60. Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet. 2002 May; 39(5):359-65. PMID: 12011158.
    Citations: 7     Fields:    Translation:HumansCells
  61. Sadler LS, Pober BR, Grandinetti A, Scheiber D, Fekete G, Sharma AN, Urbán Z. Differences by sex in cardiovascular disease in Williams syndrome. J Pediatr. 2001 Dec; 139(6):849-53. PMID: 11743512.
    Citations: 7     Fields:    Translation:Humans
  62. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. 2001 Nov; 29(3):321-5. PMID: 11685205.
    Citations: 94     Fields:    Translation:HumansCells
  63. Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet. 2001 Sep 01; 102(4):359-67. PMID: 11503164.
    Citations: 17     Fields:    Translation:HumansCells
  64. Osborne L, Pober B. Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome. J Am Acad Child Adolesc Psychiatry. 2001 Jun; 40(6):732-5. PMID: 11392353.
    Citations: 1     Fields:    Translation:HumansCells
  65. Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet. 2001 May 15; 10(11):1185-9. PMID: 11371511.
    Citations: 36     Fields:    Translation:HumansCells
  66. Schultz RT, Grelotti DJ, Pober B. Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships. J Am Acad Child Adolesc Psychiatry. 2001 May; 40(5):606-9. PMID: 11349707.
    Citations: 2     Fields:    Translation:Humans
  67. Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. Am J Med Genet. 2001 Jan 15; 98(2):121-4. PMID: 11223846.
    Citations: 1     Fields:    Translation:HumansCells
  68. Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A. KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Genomics. 1999 Sep 15; 60(3):251-7. PMID: 10493825.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  69. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999 Aug; 8(8):1461-72. PMID: 10400993.
    Citations: 110     Fields:    Translation:HumansCells
  70. Broder K, Reinhardt E, Ahern J, Lifton R, Tamborlane W, Pober B. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet. 1999 Apr 23; 83(5):356-60. PMID: 10232742.
    Citations: 10     Fields:    Translation:Humans
  71. Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR. Early puberty in Williams syndrome. Clin Dysmorphol. 1999 Apr; 8(2):117-21. PMID: 10319200.
    Citations: 4     Fields:    Translation:Humans
  72. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet. 1999 Mar 19; 83(3):201-6. PMID: 10096597.
    Citations: 42     Fields:    Translation:HumansCells
  73. Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Genomics. 1999 Feb 01; 55(3):335-40. PMID: 10049589.
    Citations: 5     Fields:    Translation:HumansCells
  74. Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P. A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med. 1998 Dec 10; 339(24):1752-7. PMID: 9845710.
    Citations: 1     Fields:    Translation:HumansCells
  75. Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? J Med Genet. 1998 Apr; 35(4):273-8. PMID: 9598718.
    Citations: 9     Fields:    Translation:HumansCells
  76. Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics. 1998 Feb 01; 47(3):350-8. PMID: 9480748.
    Citations: 27     Fields:    Translation:HumansCells
  77. Li SY, Gibson LH, Gomez K, Pober BR, Yang-Feng TL. Familial dup(5)(q15q21) associated with normal and abnormal phenotypes. Am J Med Genet. 1998 Jan 06; 75(1):75-7. PMID: 9450861.
    Citations: 2     Fields:    Translation:HumansCells
  78. Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet. 1997 Aug; 61(2):449-52. PMID: 9311751.
    Citations: 8     Fields:    Translation:Humans
  79. Hirt-Armon K, Pober BR, Holmes LB. Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. Am J Med Genet. 1996 Nov 11; 65(4):266-8. PMID: 8923932.
    Citations:    Fields:    Translation:Humans
  80. Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996 Sep 01; 36(2):328-36. PMID: 8812460.
    Citations: 20     Fields:    Translation:HumansCells
  81. Chapman CA, du Plessis A, Pober BR. Neurologic findings in children and adults with Williams syndrome. J Child Neurol. 1996 Jan; 11(1):63-5. PMID: 8745391.
    Citations: 15     Fields:    Translation:Humans
  82. Lin CL, Gibson L, Pober B, Yang-Feng TL. A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation. Hum Genet. 1995 Nov; 96(5):585-8. PMID: 8530007.
    Citations:    Fields:    Translation:HumansCells
  83. Soper R, Chaloupka JC, Fayad PB, Greally JM, Shaywitz BA, Awad IA, Pober BR. Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome. J Pediatr. 1995 Jun; 126(6):945-8. PMID: 7776102.
    Citations: 5     Fields:    Translation:Humans
  84. Golden JA, Nielsen GP, Pober BR, Hyman BT. The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles. Arch Neurol. 1995 Feb; 52(2):209-12. PMID: 7848137.
    Citations: 3     Fields:    Translation:HumansCells
  85. Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Med Genet. 1995 Jan 16; 55(2):155-60. PMID: 7717414.
    Citations: 14     Fields:    Translation:HumansCells
  86. Pober BR, Filiano JJ. Association of Chiari I malformation and Williams syndrome. Pediatr Neurol. 1995 Jan; 12(1):84-8. PMID: 7748369.
    Citations: 5     Fields:    Translation:Humans
  87. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome--oral presentation of 45 cases. Pediatr Dent. 1994 Jul-Aug; 16(4):262-7. PMID: 7937257.
    Citations: 5     Fields:    Translation:Humans
  88. Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet. 1993 May 15; 46(3):271-4. PMID: 8488870.
    Citations: 8     Fields:    Translation:Humans
  89. Shapira SK, Neish AS, Pober BR. Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. J Med Genet. 1992 Jul; 29(7):509-10. PMID: 1379303.
    Citations:    Fields:    Translation:Humans
  90. Munsat TL, Skerry L, Korf B, Pober B, Schapira Y, Gascon GG, al-Rajeh SM, Dubowitz V, Davies K, Brzustowicz LM, et al. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q). Neurology. 1990 Dec; 40(12):1831-6. PMID: 2247230.
    Citations: 12     Fields:    Translation:HumansCells
  91. Moeschler JB, Pober BR, Holmes LB, Graham JM. Acrocallosal syndrome: new findings. Am J Med Genet. 1989 Mar; 32(3):306-10. PMID: 2729349.
    Citations: 7     Fields:    Translation:Humans
  92. Werler MM, Pober BR, Nelson K, Holmes LB. Reporting accuracy among mothers of malformed and nonmalformed infants. Am J Epidemiol. 1989 Feb; 129(2):415-21. PMID: 2643303.
    Citations: 38     Fields:    Translation:Humans
  93. Benson CB, Pober BR, Hirsh MP, Doubilet PM. Sonography of Nager acrofacial dysostosis syndrome in utero. J Ultrasound Med. 1988 Mar; 7(3):163-7. PMID: 3280827.
    Citations: 3     Fields:    Translation:Humans
  94. Benacerraf BR, Pober BR, Sanders SP. Accuracy of fetal echocardiography. Radiology. 1987 Dec; 165(3):847-9. PMID: 3685364.
    Citations: 4     Fields:    Translation:Humans
  95. Schwartz BR, Lage JM, Pober BR, Driscoll SG. Isolated congenital renal tubular immaturity in siblings. Hum Pathol. 1986 Dec; 17(12):1259-63. PMID: 3539761.
    Citations: 6     Fields:    Translation:Humans
  96. Bundy AL, Saltzman DH, Pober B, Fine C, Emerson D, Doubilet PM. Antenatal sonographic findings in trisomy 18. J Ultrasound Med. 1986 Jul; 5(7):361-4. PMID: 3522925.
    Citations: 4     Fields:    Translation:HumansCells
  97. Pober BR, Greene MF, Holmes LB. Complexities of intraventricular abnormalities. J Pediatr. 1986 Apr; 108(4):545-51. PMID: 3514828.
    Citations:    Fields:    Translation:HumansCells
  98. Werler MM, Pober BR, Holmes LB. Smoking and pregnancy. Teratology. 1985 Dec; 32(3):473-81. PMID: 4082075.
    Citations: 9     Fields:    Translation:Humans
  99. Snydman DR, Gorbea HF, Pober BR, Majka JA, Murray SA, Perry LK. Predictive value of surveillance skin cultures in total-parenteral-nutrition-related infection. Lancet. 1982 Dec 18; 2(8312):1385-8. PMID: 6129473.
    Citations: 29     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.