Veltman MW - Search Results

1

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: veltman mw. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.

2

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.

3

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341

4

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. Bolton PF, et al. Among authors: veltman mw. Am J Med Genet. 2001 Dec 8;105(8):675-85. doi: 10.1002/ajmg.1551. Am J Med Genet. 2001. PMID: 11803514 Review.

5

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. Dennis NR, et al. Among authors: veltman mw. Am J Med Genet A. 2006 Mar 1;140(5):434-41. doi: 10.1002/ajmg.a.31091. Am J Med Genet A. 2006. PMID: 16470730

6

An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder.

Curran S, Roberts S, Thomas S, Veltman M, Browne J, Medda E, Pickles A, Sham P, Bolton PF. Curran S, et al. Am J Med Genet B Neuropsychiatr Genet. 2005 Aug 5;137B(1):25-8. doi: 10.1002/ajmg.b.30126. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15952184

7

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.

Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA, Thompson RJ, Roberts SE, Dennis NR, Browne CE, Goodson S, Moore V, Brown J. Bolton PF, et al. Among authors: veltman mw. Psychiatr Genet. 2004 Sep;14(3):131-7. doi: 10.1097/00041444-200409000-00002. Psychiatr Genet. 2004. PMID: 15318025

8

A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.

Veltman MW, Thompson RJ, Craig EE, Dennis NR, Roberts SE, Moore V, Brown JA, Bolton PF. Veltman MW, et al. J Autism Dev Disord. 2005 Feb;35(1):117-27. doi: 10.1007/s10803-004-1039-1. J Autism Dev Disord. 2005. PMID: 15796127

9

Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review.

Veltman MW, Craig EE, Bolton PF. Veltman MW, et al. Psychiatr Genet. 2005 Dec;15(4):243-54. doi: 10.1097/00041444-200512000-00006. Psychiatr Genet. 2005. PMID: 16314754 Review.

10

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.

Maggouta F, Roberts SE, Dennis NR, Veltman MW, Crolla JA. Maggouta F, et al. Among authors: veltman mw. J Med Genet. 2003 Jul;40(7):e84. doi: 10.1136/jmg.40.7.e84. J Med Genet. 2003. PMID: 12843333 Free PMC article. No abstract available.

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