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Items: 1 to 20 of 104

1.

Effects of Thyroid Hormone on Mitochondria and Metabolism of Human Preimplantation Embryos.

Noli L, Khorsandi SE, Pyle A, Giritharan G, Fogarty N, Capalbo A, Devito L, Jovanovic VM, Khurana P, Rosa H, Kolundzic N, Cvoro A, Niakan KK, Malik A, Foulk R, Heaton N, Ardawi MS, Chinnery PF, Ogilvie C, Khalaf Y, Ilic D.

Stem Cells. 2019 Nov 28. doi: 10.1002/stem.3129. [Epub ahead of print]

PMID:
31778245
2.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

3.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9.

4.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

5.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

6.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

7.

Care needed in interpretation of chromosome rearrangements.

Ogilvie C, Bint S.

Reprod Biomed Online. 2018 Nov;37(5):651. doi: 10.1016/j.rbmo.2018.09.005. Epub 2018 Oct 6. No abstract available.

PMID:
30385143
8.

Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.

Greenfield A, Braude P, Flinter F, Lovell-Badge R, Ogilvie C, Perry ACF.

Nat Biotechnol. 2018 Jul 6;36(7):660. doi: 10.1038/nbt0718-660b. No abstract available.

PMID:
29979654
9.

Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.

Greenfield A, Braude P, Flinter F, Lovell-Badge R, Ogilvie C, Perry ACF.

Nat Biotechnol. 2018 Feb 6;36(2):196. doi: 10.1038/nbt0218-196b. No abstract available.

PMID:
29406506
10.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

11.

Assisted reproductive technologies to prevent human mitochondrial disease transmission.

Greenfield A, Braude P, Flinter F, Lovell-Badge R, Ogilvie C, Perry ACF.

Nat Biotechnol. 2017 Nov 9;35(11):1059-1068. doi: 10.1038/nbt.3997. [Epub ahead of print] Erratum in: Nat Biotechnol. 2018 Feb 6;36(2):196. Nat Biotechnol. 2018 Jul 6;36(7):660.

PMID:
29121011
12.

Human embryos from induced pluripotent stem cell-derived gametes: ethical and quality considerations.

Ilic D, Ogilvie C, Noli L, Kolundzic N, Khalaf Y.

Regen Med. 2017 Sep;12(6):681-691. doi: 10.2217/rme-2017-0052. Epub 2017 Oct 4.

PMID:
28976837
13.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE.

Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9.

14.

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.

Donaghue C, Davies N, Ahn JW, Thomas H, Ogilvie CM, Mann K.

Mol Cytogenet. 2017 Apr 5;10:12. doi: 10.1186/s13039-017-0313-9. eCollection 2017.

15.

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.

16.

Potential of human twin embryos generated by embryo splitting in assisted reproduction and research.

Noli L, Ogilvie C, Khalaf Y, Ilic D.

Hum Reprod Update. 2017 Mar 1;23(2):156-165. doi: 10.1093/humupd/dmw041. Review.

PMID:
27852683
17.

Human Embryos Created by Embryo Splitting Secrete Significantly Lower Levels of miRNA-30c.

Noli L, Capalbo A, Dajani Y, Cimadomo D, Bvumbe J, Rienzi L, Ubaldi FM, Ogilvie C, Khalaf Y, Ilic D.

Stem Cells Dev. 2016 Dec 15;25(24):1853-1862. Epub 2016 Oct 17.

18.

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N.

Eur J Hum Genet. 2016 Jan;25(1):66-72. doi: 10.1038/ejhg.2016.107. Epub 2016 Sep 21.

19.

Concise Review: Human Embryonic Stem Cells-What Have We Done? What Are We Doing? Where Are We Going?

Ilic D, Ogilvie C.

Stem Cells. 2017 Jan;35(1):17-25. doi: 10.1002/stem.2450. Epub 2016 Jul 17. Review.

20.

Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis.

Lawin O'Brien A, Dall'Asta A, Tapon D, Mann K, Ahn JW, Ellis R, Ogilvie C, Lees C.

Prenat Diagn. 2016 Aug;36(8):708-13. doi: 10.1002/pd.4843. Epub 2016 Jun 30.

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