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  1. Reimold FR, Balasubramanian S, Doroquez DB, Shmukler BE, Zsengeller ZK, Saslowsky D, Thiagarajah JR, Stillman IE, Lencer WI, Wu BL, Villalpando-Carrion S, Alper SL. Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W. Front Physiol. 2015; 6:179. View abstract
  2. Brigandi SA, Shao H, Qian SY, Shen Y, Wu BL, Kang JX. Autistic children exhibit decreased levels of essential Fatty acids in red blood cells. Int J Mol Sci. 2015 May 04; 16(5):10061-76. View abstract
  3. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View abstract
  4. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  5. Wang J, Zhang W, Jiang H, Wu BL. Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med. 2014 Mar 06; 370(10):972-4. View abstract
  6. An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40. View abstract
  7. Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet. 2013 Mar 07; 92(3):375-86. View abstract
  8. Chen X, Shen Y, Gao Y, Zhao H, Sheng X, Zou J, Lip V, Xie H, Guo J, Shao H, Bao Y, Shen J, Niu B, Gusella JF, Wu BL, Zhang T. Detection of copy number variants reveals association of cilia genes with neural tube defects. PLoS One. 2013; 8(1):e54492. View abstract
  9. Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr Protoc Hum Genet. 2012 Jul; Chapter 8:Unit8.12. View abstract
  10. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View abstract
  11. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37. View abstract
  12. Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am J Hum Genet. 2011 Dec 09; 89(6):751-9. View abstract
  13. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63. View abstract
  14. Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View abstract
  15. Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View abstract
  16. Kluk MJ, An Y, James P, Coulter D, Harris D, Wu BL, Shen Y. Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. J Mol Diagn. 2011 May; 13(3):363-7. View abstract
  17. Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar; 156(2):225-32. View abstract
  18. Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View abstract
  19. Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY. VANGL2 mutations in human cranial neural-tube defects. N Engl J Med. 2010 Jun 10; 362(23):2232-5. View abstract
  20. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View abstract
  21. Obler D, Wu BL, Lip V, Estrella E, Keck S, Haggan C, Semigran M, Smoot LB. Familial dilated cardiomyopathy secondary to dystrophin splice site mutation. J Card Fail. 2010 Mar; 16(3):194-9. View abstract
  22. Kenna MA, Feldman HA, Neault MW, Frangulov A, Wu BL, Fligor B, Rehm HL. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. Arch Otolaryngol Head Neck Surg. 2010 Jan; 136(1):81-7. View abstract
  23. Shen Y, Wu BL, Gusella JF. Large-scale medical resequencing for X-linked mental retardation. Clin Chem. 2010 Mar; 56(3):339-41. View abstract
  24. Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View abstract
  25. Miller DT, Shen Y, Harris DJ, Wu BL, Sobeih MM. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View abstract
  26. Shen Y, Wu BL. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J Genet Genomics. 2009 Apr; 36(4):257-65. View abstract
  27. Shen Y, Wu BL. Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics. Clin Chem. 2009 Apr; 55(4):659-69. View abstract
  28. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  29. Neilan EG, Delgado MR, Donovan MA, Kim SY, Jou RL, Wu BL, Kang PB. Response of motor complications in Cockayne syndrome to carbidopa-levodopa. Arch Neurol. 2008 Aug; 65(8):1117-21. View abstract
  30. Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92. View abstract
  31. Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12. View abstract
  32. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
  33. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View abstract
  34. Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul; 9(7):413-26. View abstract
  35. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Atypical cases of Angelman syndrome. Am J Med Genet A. 2006 Nov 01; 140(21):2361-4. View abstract
  36. Dai P, Yu F, Kang DY, Zhang X, Liu X, Mi WZ, Cao JY, Yuan HJ, Yang WY, Wu BL, Han DY. [Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2005 Oct; 40(10):769-73. View abstract
  37. Tomaszewicz K, Kang P, Wu BL. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18; 37(1):55-7. View abstract
  38. Shao H, Lip V, Wu BL. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18; 37(1):64-7. View abstract
  39. Deng Q, Liao R, Wu BL, Sun P. High intensity ras signaling induces premature senescence by activating p38 pathway in primary human fibroblasts. J Biol Chem. 2004 Jan 09; 279(2):1050-9. View abstract
  40. Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8. View abstract
  41. Xu R, Ogino S, Lip V, Fang H, Wu BL. Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genet Test. 2003; 7(4):277-81. View abstract
  42. Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88. View abstract
  43. Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002 Jul; 71(1):162-4. View abstract
  44. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep; 127(9):1037-42. View abstract
  45. Keegan CE, Mulliken JB, Wu BL, Korf BR. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 2001 Jul-Aug; 3(4):310-3. View abstract
  46. Chen C, Wu B, Wei T, Egholm M, Strauss WM. Unique chromosome identification and sequence-specific structural analysis with short PNA oligomers. Mamm Genome. 2000 May; 11(5):384-91. View abstract
  47. Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet. 2000 Jan; 66(1):100-9. View abstract
  48. Wu BL, Schneider GH, Korf BR. Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet. 1997 Mar 03; 69(1):98-101. View abstract
  49. Wu BL, Boles RG, Yaari H, Weremowicz S, Schneider GH, Korf BR. Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum Genet. 1997 Feb; 99(2):209-13. View abstract
  50. White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH. Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. Am J Hum Genet. 1996 Aug; 59(2):423-30. View abstract
  51. Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet. 1996 Mar 01; 62(1):77-83. View abstract
  52. Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR. Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. Am J Med Genet. 1995 Dec 04; 59(4):528-35. View abstract
  53. Tonk V, Wyandt HE, Osella P, Skare J, Wu BL, Haddad B, Milunsky A. Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin Genet. 1995 Sep; 48(3):151-5. View abstract
  54. North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). Am J Med Genet. 1995 Jul 17; 57(4):610-4. View abstract
  55. Troxler RF, Offner GD, Jiang JW, Wu BL, Skare JC, Milunsky A, Wyandt HE. Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33. Hum Genet. 1993 Dec; 92(6):563-6. View abstract
  56. Wu BL, Milunsky A, Nelson D, Schmeckpeper B, Porta G, Schlessinger D, Skare J. High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1993 Jul; 17(1):163-70. View abstract
  57. Skare J, Wu BL, Madan S, Pulijaal V, Purtilo D, Haber D, Nelson D, Sylla B, Grierson H, Nitowsky H, et al. Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Genomics. 1993 Apr; 16(1):254-5. View abstract
  58. Wu BL, Milunsky A, Wyandt H, Hoth C, Baldwin C, Skare J. In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet. 1993; 63(1):29-32. View abstract