Lip V - Search Results

1

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Talkowski ME, et al. Among authors: lip v. Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016. Am J Hum Genet. 2012. PMID: 23217328 Free PMC article.

2

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

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. Shen Y, et al. Among authors: lip v. Clin Chem. 2007 Dec;53(12):2051-9. doi: 10.1373/clinchem.2007.090290. Epub 2007 Sep 27. Clin Chem. 2007. PMID: 17901113

3

Detection of copy number variants reveals association of cilia genes with neural tube defects.

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. Chen X, et al. Among authors: lip v. PLoS One. 2013;8(1):e54492. doi: 10.1371/journal.pone.0054492. Epub 2013 Jan 17. PLoS One. 2013. PMID: 23349908 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: lip v. 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

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Brownstein CA, et al. Among authors: lip v. Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16. Am J Med Genet A. 2016. PMID: 26887912 Free PMC article.

6

Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.

Xia D, Zhang C, Lip V, Harris M, Shen Y. Xia D, et al. Among authors: lip v. BMC Med Inform Decis Mak. 2018 Nov 6;18(1):91. doi: 10.1186/s12911-018-0684-9. BMC Med Inform Decis Mak. 2018. PMID: 30400925 Free PMC article.

7

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: lip v. 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.

8

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Wu BL, et al. Among authors: lip v. Genet Med. 2002 Jul-Aug;4(4):279-88. doi: 10.1097/00125817-200207000-00006. Genet Med. 2002. PMID: 12172394 Free article.

9

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. Among authors: lip v. 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

10

Atypical cases of Angelman syndrome.

Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Lawson-Yuen A, et al. Among authors: lip v. 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

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