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Items: 27

1.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
2.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
3.

Response.

Vasudevan PC, Suri M.

Clin Med (Lond). 2018 Mar;18(2):192. doi: 10.7861/clinmedicine.18-2-192. No abstract available.

PMID:
29626039
4.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
5.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M.

Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.

6.

Detection of structural mosaicism from targeted and whole-genome sequencing data.

King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME; Deciphering Developmental Disorders Study.

Genome Res. 2017 Oct;27(10):1704-1714. doi: 10.1101/gr.212373.116. Epub 2017 Aug 30.

7.

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Jones GE, Richmond AK, Navti O, Mousa HA, Abbs S, Thompson E, Mansour S, Vasudevan PC.

Am J Med Genet A. 2017 Aug;173(8):2251-2256. doi: 10.1002/ajmg.a.38293. Epub 2017 May 23.

PMID:
28544699
8.

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Jones GE, Robertson L, Warman P, Craft EV, Cresswell L, Vasudevan PC.

Ophthalmic Genet. 2016 Sep;37(3):352-3. doi: 10.3109/13816810.2015.1059463. Epub 2016 Feb 9. No abstract available.

PMID:
26860946
9.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA.

Am J Med Genet A. 2016 Mar;170(3):754-9. doi: 10.1002/ajmg.a.37511. Epub 2016 Jan 5.

PMID:
26728615
10.
11.

Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Radley JA, Vasudevan PC.

Clin Dysmorphol. 2015 Oct;24(4):156-8. doi: 10.1097/MCD.0000000000000095. No abstract available.

PMID:
26241618
12.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR.

Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.

13.

Mosaic structural variation in children with developmental disorders.

King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME; Deciphering Developmental Disorders Study.

Hum Mol Genet. 2015 May 15;24(10):2733-45. doi: 10.1093/hmg/ddv033. Epub 2015 Jan 29.

14.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S.

Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.

15.

Status epilepsy in CCM with KRIT1 gene change.

Craft EV, Vasudevan PC.

Eur J Paediatr Neurol. 2014 Mar;18(2):241-2. doi: 10.1016/j.ejpn.2013.10.001. Epub 2013 Oct 31. No abstract available.

PMID:
24238821
16.

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

Jones GE, Tanteles GA, Vasudevan PC, Porter H, Robertson L.

J Clin Pathol. 2014 Mar;67(3):283-4. doi: 10.1136/jclinpath-2013-201856. Epub 2013 Nov 4. No abstract available. Erratum in: J Clin Pathol. 2014 Nov;67(11):1018.

PMID:
24189319
17.

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype.

Fuchs GE, Suri M, Dux A, Craft EV, Vasudevan PC, Tanteles GA.

Clin Dysmorphol. 2012 Jul;21(3):157-61. doi: 10.1097/MCD.0b013e328354e8cc. No abstract available.

PMID:
22610273
18.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.

Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.

19.

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ.

J Med Genet. 2011 May;48(5):290-8. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22.

PMID:
21343628
20.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.

21.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

22.

Prader-Willi and Klinefelter syndrome: a coincidence or not?

Vasudevan PC, Quarrell OW.

Clin Dysmorphol. 2007 Apr;16(2):127-9.

PMID:
17351360
23.

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO.

Eur J Hum Genet. 2006 Jul;14(7):884-7. Epub 2006 Apr 26.

24.

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.

Vasudevan PC, Parker MJ.

Clin Dysmorphol. 2006 Apr;15(2):85-7.

PMID:
16531734
25.

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.

Vasudevan PC, Cohen MC, Whitby EH, Anumba DO, Quarrell OW.

Prenat Diagn. 2006 Mar;26(3):267-72.

PMID:
16450352
26.

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OW.

Clin Dysmorphol. 2005 Jul;14(3):109-16. Review.

PMID:
15930898
27.

A case of Fryns syndrome without diaphragmatic hernia and review of the literature.

Vasudevan PC, Stewart H.

Clin Dysmorphol. 2004 Jul;13(3):179-82.

PMID:
15194956

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