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Items: 1 to 50 of 149

1.

An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia.

Peng H, Jenkins ZA, White R, Connors S, Hunter MF, Ronan A, Zankl A, Markie DM, Daniel PB, Robertson SP.

J Clin Endocrinol Metab. 2020 Jan 23. pii: dgaa034. doi: 10.1210/clinem/dgaa034. [Epub ahead of print]

PMID:
31970420
2.

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Driver SGW, Jackson MR, Richter K, Tomlinson P, Brockway B, Halliday BJ, Markie DM, Robertson SP, Wade EM.

Eur J Hum Genet. 2019 Dec 2. doi: 10.1038/s41431-019-0546-7. [Epub ahead of print]

PMID:
31792352
3.

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ.

Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019. pii: EDM190103. doi: 10.1530/EDM-19-0103. [Epub ahead of print]

4.

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.

Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, Drummond BK, Markie DM, van Vuuren WJ, van Vuuren LJ, Casamassimo PS, Ettinger R, Owais A, van Staden I, Amendt BA, Adeyemo AA, Murray JC, Robertson SP, Butali A.

Front Genet. 2019 Sep 20;10:800. doi: 10.3389/fgene.2019.00800. eCollection 2019.

5.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. No abstract available.

6.

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia.

Klaus J, Kanton S, Kyrousi C, Ayo-Martin AC, Di Giaimo R, Riesenberg S, O'Neill AC, Camp JG, Tocco C, Santel M, Rusha E, Drukker M, Schroeder M, Götz M, Robertson SP, Treutlein B, Cappello S.

Nat Med. 2019 Apr;25(4):561-568. doi: 10.1038/s41591-019-0371-0. Epub 2019 Mar 11.

PMID:
30858616
7.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

8.

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

Cameron-Christie SR, Wilde J, Gray A, Tankard R, Bahlo M, Markie D, Evans HM, Robertson SP.

BMC Med Genomics. 2018 Dec 18;11(1):121. doi: 10.1186/s12920-018-0440-0.

9.

Radio-morphology: Parametric shape-based features in radiotherapy.

Lakshminarayanan P, Jiang W, Robertson SP, Cheng Z, Han P, Bowers M, Moore JA, Shpitser I, Siddiqui SA, Quon H, Taylor RH, McNutt T.

Med Phys. 2019 Feb;46(2):704-713. doi: 10.1002/mp.13323. Epub 2018 Dec 24.

PMID:
30506737
10.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

11.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP.

Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.

12.

Improving prediction of surgical resectability over current staging guidelines in patients with pancreatic cancer who receive stereotactic body radiation therapy.

Cheng Z, Rosati LM, Chen L, Mian OY, Cao Y, Villafania M, Nakatsugawa M, Moore JA, Robertson SP, Jackson J, Hacker-Prietz A, He J, Wolfgang CL, Weiss MJ, Herman JM, Narang AK, McNutt TR.

Adv Radiat Oncol. 2018 Jul 19;3(4):601-610. doi: 10.1016/j.adro.2018.07.002. eCollection 2018 Oct-Dec.

13.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

14.

Evaluation of classification and regression tree (CART) model in weight loss prediction following head and neck cancer radiation therapy.

Cheng Z, Nakatsugawa M, Hu C, Robertson SP, Hui X, Moore JA, Bowers MR, Kiess AP, Page BR, Burns L, Muse M, Choflet A, Sakaue K, Sugiyama S, Utsunomiya K, Wong JW, McNutt TR, Quon H.

Adv Radiat Oncol. 2017 Dec 7;3(3):346-355. doi: 10.1016/j.adro.2017.11.006. eCollection 2018 Jul-Sep.

15.

Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.

Robertson SP, Hindmarsh JH, Berry S, Cameron VA, Cox MP, Dewes O, Doughty RN, Gray G, Jacobsen JC, Laurence A, Matisoo-Smith E, Morton S, Shelling AN, Sika-Paotonu D, Rolleston A, Skinner JR, Snell RG, Sporle A, Print C, Merriman TR, Hudson M, Wilcox P.

N Z Med J. 2018 Aug 17;131(1480):81-89.

PMID:
30116069
16.

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression.

Lind T, Lugano R, Gustafson AM, Norgård M, van Haeringen A, Dimberg A, Melhus H, Robertson SP, Andersson G.

Bone Rep. 2018 Jun 21;9:27-36. doi: 10.1016/j.bonr.2018.06.006. eCollection 2018 Dec.

17.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):669.

18.

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project.

PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.

19.

Using Big Data Analytics to Advance Precision Radiation Oncology.

McNutt TR, Benedict SH, Low DA, Moore K, Shpitser I, Jiang W, Lakshminarayanan P, Cheng Z, Han P, Hui X, Nakatsugawa M, Lee J, Moore JA, Robertson SP, Shah V, Taylor R, Quon H, Wong J, DeWeese T.

Int J Radiat Oncol Biol Phys. 2018 Jun 1;101(2):285-291. doi: 10.1016/j.ijrobp.2018.02.028. Epub 2018 Mar 2.

PMID:
29726357
20.

The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease.

Baudier J, Jenkins ZA, Robertson SP.

J Cell Sci. 2018 Apr 13;131(8). pii: jcs213959. doi: 10.1242/jcs.213959. Review.

21.

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.

O'Neill AC, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie DM, Kirk EP, Götz M, Robertson SP, Cappello S.

Front Cell Neurosci. 2018 Mar 12;12:57. doi: 10.3389/fncel.2018.00057. eCollection 2018.

22.

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.

Spencer C, Lombaard H, Wise A, Krause A, Robertson SP.

Am J Med Genet A. 2018 Apr;176(4):980-984. doi: 10.1002/ajmg.a.38651.

PMID:
29575627
23.

Effects of perineural invasion on biochemical recurrence and prostate cancer-specific survival in patients treated with definitive external beam radiotherapy.

Peng LC, Narang AK, Gergis C, Radwan NA, Han P, Marciscano AE, Robertson SP, He P, Trieu J, Ram AN, McNutt TR, Griffith E, DeWeese TA, Honig S, Singh H, Greco SC, Tran PT, Deville C, DeWeese TL, Song DY.

Urol Oncol. 2018 Jun;36(6):309.e7-309.e14. doi: 10.1016/j.urolonc.2018.02.008. Epub 2018 Mar 16.

PMID:
29551548
24.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

Jacobsen JC, Whitford W, Swan B, Taylor J, Love DR, Hill R, Molyneux S, George PM, Mackay R, Robertson SP, Snell RG, Lehnert K.

JIMD Rep. 2018;42:31-36. doi: 10.1007/8904_2017_73. Epub 2017 Nov 21.

25.

Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand.

Evans HM, Asher MI, Cameron-Christie S, Farthing S, McCall J, Robertson SP, Wong H, Morreau PN.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):218-221. doi: 10.1097/MPG.0000000000001781.

PMID:
29036008
26.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP.

Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2.

PMID:
29024177
27.

Mutations in the netrin-1 gene cause congenital mirror movements.

Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chédotal A, Dusart I, Roze E, Markie D.

J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25.

28.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA.

Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002.

29.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

30.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Bernkopf M, Hunt D, Koelling N, Morgan T, Collins AL, Fairhurst J, Robertson SP, Douglas AGL, Goriely A.

Hum Mutat. 2017 Oct;38(10):1360-1364. doi: 10.1002/humu.23281. Epub 2017 Jul 6.

31.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
32.

Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.

Ithychanda SS, Dou K, Robertson SP, Qin J.

J Biol Chem. 2017 May 19;292(20):8390-8400. doi: 10.1074/jbc.M117.776740. Epub 2017 Mar 27.

33.

End-of-radiation PSA as a novel prognostic factor in patients undergoing definitive radiation and androgen deprivation therapy for prostate cancer.

Narang AK, Trieu J, Radwan N, Ram A, Robertson SP, He P, Gergis C, Griffith E, Singh H, DeWeese TA, Honig S, Annadanam A, Greco S, DeVille C, McNutt T, DeWeese TL, Song DY, Tran PT.

Prostate Cancer Prostatic Dis. 2017 Jun;20(2):203-209. doi: 10.1038/pcan.2016.67. Epub 2017 Jan 17.

34.

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

Glendining KA, Markie D, Gardner RJ, Franz EA, Robertson SP, Jasoni CL.

Sci Rep. 2017 Jan 6;7:39823. doi: 10.1038/srep39823.

35.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

36.

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Morton JE, Frentz S, Morgan T, Sutherland-Smith AJ, Robertson SP.

Am J Med Genet A. 2016 Oct;170(10):2706-10. doi: 10.1002/ajmg.a.37804. Epub 2016 Jul 13. Review.

PMID:
27410456
37.

Very High-Risk Localized Prostate Cancer: Outcomes Following Definitive Radiation.

Narang AK, Gergis C, Robertson SP, He P, Ram AN, McNutt TR, Griffith E, DeWeese TA, Honig S, Singh H, Song DY, Tran PT, DeWeese TL.

Int J Radiat Oncol Biol Phys. 2016 Feb 1;94(2):254-62. doi: 10.1016/j.ijrobp.2015.10.056. Epub 2015 Oct 31.

38.

Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming.

Gascón S, Murenu E, Masserdotti G, Ortega F, Russo GL, Petrik D, Deshpande A, Heinrich C, Karow M, Robertson SP, Schroeder T, Beckers J, Irmler M, Berndt C, Angeli JP, Conrad M, Berninger B, Götz M.

Cell Stem Cell. 2016 Mar 3;18(3):396-409. doi: 10.1016/j.stem.2015.12.003. Epub 2015 Dec 31.

39.

Telomere length and periodontal attachment loss: a prospective cohort study.

Thomson WM, Zeng J, Broadbent JM, Foster Page LA, Shalev I, Moffitt TE, Caspi A, Williams SM, Braithwaite AW, Robertson SP, Poulton R.

J Clin Periodontol. 2016 Feb;43(2):121-7. doi: 10.1111/jcpe.12499. Epub 2016 Feb 19.

40.

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP.

Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001.

41.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K.

Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

42.

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K.

J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26.

PMID:
26497564
43.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

44.

A data-mining framework for large scale analysis of dose-outcome relationships in a database of irradiated head and neck cancer patients.

Robertson SP, Quon H, Kiess AP, Moore JA, Yang W, Cheng Z, Afonso S, Allen M, Richardson M, Choflet A, Sharabi A, McNutt TR.

Med Phys. 2015 Jul;42(7):4329-37. doi: 10.1118/1.4922686.

PMID:
26133630
45.

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC.

Am J Med Genet A. 2015 Jun;167(6):1215-22. doi: 10.1002/ajmg.a.37044. Epub 2015 Apr 21.

PMID:
25899317
46.

Association of mutations in FLNA with craniosynostosis.

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO.

Eur J Hum Genet. 2015 Dec;23(12):1684-8. doi: 10.1038/ejhg.2015.31. Epub 2015 Apr 15.

47.

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP.

Am J Med Genet A. 2015 May;167A(5):1161-4. doi: 10.1002/ajmg.a.36981. Epub 2015 Mar 28. No abstract available.

PMID:
25820619
48.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP.

Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26.

49.

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

Franz EA, Chiaroni-Clarke R, Woodrow S, Glendining KA, Jasoni CL, Robertson SP, Gardner RJM, Markie D.

J Neurol Sci. 2015 Apr 15;351(1-2):140-145. doi: 10.1016/j.jns.2015.03.006. Epub 2015 Mar 10.

PMID:
25813273
50.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

van Kogelenberg M, Clark AR, Jenkins Z, Morgan T, Anandan A, Sawyer GM, Edwards M, Dudding T, Homfray T, Castle B, Tolmie J, Stewart F, Kivuva E, Pilz DT, Gabbett M, Sutherland-Smith AJ, Robertson SP.

J Mol Med (Berl). 2015 Jul;93(7):773-82. doi: 10.1007/s00109-015-1261-7. Epub 2015 Feb 18.

PMID:
25686753

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