Wu BL - Search Results

1

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B. Cox GF, et al. Among authors: wu bl. Am J Hum Genet. 2002 Jul;71(1):162-4. doi: 10.1086/341096. Epub 2002 May 8. Am J Hum Genet. 2002. PMID: 12016591 Free PMC article.

2

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

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; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Among authors: wu bl. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.

3

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

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. Dauber A, et al. Among authors: wu bl. Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23. Am J Hum Genet. 2011. PMID: 22118881 Free PMC article.

4

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

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. An Y, et al. Among authors: wu bl. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):832-40. doi: 10.1002/ajmg.b.32187. Epub 2013 Sep 6. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 24019301

5

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

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. Bennett RR, et al. Among authors: wu bl. BMC Genet. 2009 Oct 18;10:66. doi: 10.1186/1471-2156-10-66. BMC Genet. 2009. PMID: 19835634 Free PMC article.

6

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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. Talkowski ME, et al. Among authors: wu bl. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.

7

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

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. Shen Y, et al. Among authors: wu bl. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):225-32. doi: 10.1002/ajmg.b.31147. Epub 2010 Dec 28. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302351

8

Atypical cases of Angelman syndrome.

Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Lawson-Yuen A, et al. Among authors: wu bl. Am J Med Genet A. 2006 Nov 1;140(21):2361-4. doi: 10.1002/ajmg.a.31481. Am J Med Genet A. 2006. PMID: 17036311

9

Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.

Shao H, Lip V, Wu BL. Shao H, et al. Among authors: wu bl. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18;37(1):64-7. Beijing Da Xue Xue Bao Yi Xue Ban. 2005. PMID: 15719045

10

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.

Wu BL, Kenna M, Lip V, Irons M, Platt O. Wu BL, et al. Am J Med Genet A. 2003 Aug 30;121A(2):102-8. doi: 10.1002/ajmg.a.20210. Am J Med Genet A. 2003. PMID: 12910486

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