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Items: 1 to 50 of 83

1.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang C, Liang C, Ahmad KE, Gu Y, Siow SF, Colebatch JG, Whyte S, Ng K, Cremer PD, Corbett AJ, Davis RL, Roscioli T, Cowley MJ, Park JS, Sue CM, Kumar KR.

Cerebellum. 2018 Aug 4. doi: 10.1007/s12311-018-0969-7. [Epub ahead of print]

PMID:
30078120
2.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T.

Genet Med. 2018 Jul 2. doi: 10.1038/s41436-018-0082-9. [Epub ahead of print]

PMID:
29961766
3.

Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

LeBlanc S, David D, Colley A, Buckley M, Roscioli T, Barnett C.

Mol Syndromol. 2018 May;9(3):149-153. doi: 10.1159/000488439. Epub 2018 Apr 24.

PMID:
29928180
4.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

PMID:
29805042
5.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T.

Genet Med. 2018 Mar 29. doi: 10.1038/gim.2018.39. [Epub ahead of print]

PMID:
29595814
6.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
7.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

PMID:
29474920
8.

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK.

Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.

9.

Prioritising the application of genomic medicine.

Doble B, Schofield DJ, Roscioli T, Mattick JS.

NPJ Genom Med. 2017 Nov 21;2:35. doi: 10.1038/s41525-017-0037-0. eCollection 2017. Review.

10.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

Genet Med. 2017 Dec 7. doi: 10.1038/gim.2017.214. [Epub ahead of print]

PMID:
29215649
11.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
12.

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A.

Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088.

13.

Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.

Yanes T, Meiser B, Young MA, Kaur R, Mitchell G, Barlow-Stewart K, Roscioli T, Halliday J, James P.

BMC Cancer. 2017 Jul 18;17(1):491. doi: 10.1186/s12885-017-3485-0.

14.

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Teoh HL, Carey K, Sampaio H, Mowat D, Roscioli T, Farrar M.

Neural Plast. 2017;2017:6509493. doi: 10.1155/2017/6509493. Epub 2017 May 28. Review.

15.

Initiating an undiagnosed diseases program in the Western Australian public health system.

Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.

Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z.

16.

KBG syndrome: An Australian experience.

Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H.

Am J Med Genet A. 2017 Apr 27. doi: 10.1002/ajmg.a.38121. [Epub ahead of print]

PMID:
28449295
17.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.

PMID:
28409271
18.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

19.

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.

Eur J Hum Genet. 2017 Jun;25(6):763-767. doi: 10.1038/ejhg.2017.29. Epub 2017 Mar 15.

20.

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SM, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI.

Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20.

21.

Hepatic Veno-Occlusive Disease with Immunodeficiency.

Roscioli T, Ziegler JB, Buckley M, Wong M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Feb 21 [updated 2017 Jan 12].

22.

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A.

Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596.

23.

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J.

J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.

PMID:
27995398
24.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

25.

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ.

Neurogenetics. 2016 Oct;17(4):265-270. Epub 2016 Sep 28.

26.

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

Teoh HL, Solyom A, Schuchman EH, Mowat D, Roscioli T, Farrar M, Sampaio H.

Pediatrics. 2016 Oct;138(4). pii: e20161068. Epub 2016 Sep 20.

27.

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Farrar MA, Teoh HL, Brammah S, Roscioli T, Cardamone M.

Brain. 2016 Dec;139(Pt 12):e67. Epub 2016 Aug 6. No abstract available.

PMID:
27497490
28.

Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.

Teoh HL, Sampaio H, Roscioli T, Farrar M.

J Neurol Neurosurg Psychiatry. 2016 Dec;87(12):1384-1385. doi: 10.1136/jnnp-2016-313812. Epub 2016 Jun 14. No abstract available.

PMID:
27301348
29.

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Stoll M, Teoh H, Lee J, Reddel S, Zhu Y, Buckley M, Sampaio H, Roscioli T, Farrar M, Nicholson G.

Neurology. 2016 Jul 5;87(1):65-70. doi: 10.1212/WNL.0000000000002813. Epub 2016 Jun 8.

30.

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR.

Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Epub 2016 Jun 6.

31.

The promise of personalised medicine.

Doble B, Schofield DJ, Roscioli T, Mattick JS.

Lancet. 2016 Jan 30;387(10017):433-4. doi: 10.1016/S0140-6736(16)00176-8. No abstract available.

PMID:
26869572
32.

Muenke syndrome: An international multicenter natural history study.

Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M.

Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6.

PMID:
26740388
33.

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Gray PE, O'Brien TA, Wagle M, Tangye SG, Palendira U, Roscioli T, Choo S, Sutton R, Ziegler JB, Frith K.

J Clin Immunol. 2015 Oct;35(7):604-9. doi: 10.1007/s10875-015-0194-9. Epub 2015 Oct 3.

PMID:
26433589
34.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP.

Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14.

PMID:
26318253
35.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.

36.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H.

Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199.

37.

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Riemersma M, Mandel H, van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, van Bokhoven H.

Neurology. 2015 May 26;84(21):2177-82. doi: 10.1212/WNL.0000000000001615. Epub 2015 May 1.

PMID:
25934851
38.

A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency.

Gray PE, Logan GJ, Alexander IE, Poulton S, Roscioli T, Ziegler J.

Int J Immunogenet. 2015 Feb;42(1):11-4. doi: 10.1111/iji.12166. Epub 2014 Nov 28.

PMID:
25443657
39.

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B.

Mol Genet Genomic Med. 2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19.

40.

Genomic approaches for studying craniofacial disorders.

Khandelwal KD, van Bokhoven H, Roscioli T, Carels CE, Zhou H.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):218-31. doi: 10.1002/ajmg.c.31379. Epub 2013 Oct 18. Review.

PMID:
24142857
41.

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S.

J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17.

PMID:
24136862
42.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11.

PMID:
24127277
43.

The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.

Ganaiem H, Eisenstein EM, Tenenbaum A, Somech R, Simanovsky N, Roscioli T, Weintraub M, Stepensky P.

Pediatr Allergy Immunol. 2013 May;24(3):250-6. doi: 10.1111/pai.12051. Epub 2013 Mar 1.

PMID:
23448538
44.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PMID:
23420520
45.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H.

Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.

46.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
47.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

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