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Items: 1 to 50 of 249

1.

Contribution of retrotransposition to developmental disorders.

Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME.

Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y.

PMID:
31604926
2.

Determining whether coeliac disease case-finding in primary care is better than random testing: a retrospective study.

Chandler K, Robins G.

BJGP Open. 2019 Jul 23;3(2). pii: bjgpopen19X101648. doi: 10.3399/bjgpopen19X101648. Print 2019 Jul.

3.

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.

Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P.

Clin Genet. 2019 Oct;96(4):366-370. doi: 10.1111/cge.13605. Epub 2019 Jul 22.

PMID:
31309540
4.

N-Glycosylation regulates ligand-dependent activation and signaling of vascular endothelial growth factor receptor 2 (VEGFR2).

Chandler KB, Leon DR, Kuang J, Meyer RD, Rahimi N, Costello CE.

J Biol Chem. 2019 Aug 30;294(35):13117-13130. doi: 10.1074/jbc.RA119.008643. Epub 2019 Jul 15.

PMID:
31308178
5.

Glycosylation in the Tumor Microenvironment: Implications for Tumor Angiogenesis and Metastasis.

Chandler KB, Costello CE, Rahimi N.

Cells. 2019 Jun 5;8(6). pii: E544. doi: 10.3390/cells8060544. Review.

6.

Use of 99mTc Labeled-Tilmanocept versus 99mTc Labeled-Sulfur Colloid in Lymphoscintigraphy: Sentinel Lymph Node Identification and Patient Reported Pain.

Murphy BL, Woodwick AR, Murphy KM, Chandler KJ, Johnson GB, Hunt CH, Peller P, Jakub JW, Homb AC.

J Nucl Med Technol. 2019 Apr 24. pii: jnmt.118.225342. doi: 10.2967/jnmt.118.225342. [Epub ahead of print]

PMID:
31019032
7.

Serum Metabolomic Profiling Identifies Key Metabolic Signatures Associated With Pathogenesis of Alcoholic Liver Disease in Humans.

Yang Z, Kusumanchi P, Ross RA, Heathers L, Chandler K, Oshodi A, Thoudam T, Li F, Wang L, Liangpunsakul S.

Hepatol Commun. 2019 Feb 20;3(4):542-557. doi: 10.1002/hep4.1322. eCollection 2019 Apr.

8.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM; Childhood Overgrowth Collaboration, Tatton-Brown K.

Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.

PMID:
30793471
9.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

10.

Multi-isotype Glycoproteomic Characterization of Serum Antibody Heavy Chains Reveals Isotype- and Subclass-Specific N-Glycosylation Profiles.

Chandler KB, Mehta N, Leon DR, Suscovich TJ, Alter G, Costello CE.

Mol Cell Proteomics. 2019 Apr;18(4):686-703. doi: 10.1074/mcp.RA118.001185. Epub 2019 Jan 18.

PMID:
30659065
11.

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.

Juszczak A, Pavić T, Vučković F, Bennett AJ, Shah N, Pape Medvidović E, Groves CJ, Šekerija M, Chandler K, Burrows C, Rojnić Putarek N, Vučić Lovrenčić M, Ćuća Knežević J, James TJ, Gloyn AL, Lauc G, McCarthy MI, Owen KR, Gornik O.

Diabetes Care. 2019 Jan;42(1):17-26. doi: 10.2337/dc18-0422. Epub 2018 Nov 19.

PMID:
30455330
12.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
13.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

14.

Levels of circulating follicular helper T cells, T helper 1 cells, and the prognostic significance of soluble form of CD40 ligand on survival in patients with alcoholic cirrhosis.

Hollister K, Kusumanchi P, Ross RA, Chandler K, Oshodi A, Heathers L, Teagarden S, Wang L, Dent AL, Liangpunsakul S.

Liver Res. 2018 Mar;2(1):52-59. doi: 10.1016/j.livres.2018.02.001. Epub 2018 Feb 22.

15.

Examining the Reversibility of Long-Term Behavioral Disruptions in Progeny of Maternal SSRI Exposure.

Maloney SE, Akula S, Rieger MA, McCullough KB, Chandler K, Corbett AM, McGowin AE, Dougherty JD.

eNeuro. 2018 Jul 9;5(4). pii: ENEURO.0120-18.2018. doi: 10.1523/ENEURO.0120-18.2018. eCollection 2018 Jul-Aug.

16.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

17.

Does mothers' employment affect adolescents' weight and activity levels? Improving our empirical estimates.

Martin MA, Lippert AM, Chandler KD, Lemmon M.

SSM Popul Health. 2018 Mar 21;4:291-300. doi: 10.1016/j.ssmph.2018.03.003. eCollection 2018 Apr.

18.

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.

Sathyanarayana V, Lee B, Wright NB, Santos R, Bonney D, Wynn R, Patel L, Chandler K, Cheesman E, Schindler D, Webb NJA, Meyer S.

Pediatr Nephrol. 2018 Sep;33(9):1547-1551. doi: 10.1007/s00467-018-3952-0. Epub 2018 Apr 12.

19.

The first 142 amino acids of glutamate decarboxylase do not contribute to epitopes recognized by autoantibodies associated with Type 1 diabetes.

Wyatt RC, Brigatti C, Liberati D, Grace SL, Gillard BT, Long AE, Marzinotto I, Shoemark DK, Chandler KA, Achenbach P, Gillespie KM, Piemonti L, Lampasona V, Williams AJK.

Diabet Med. 2018 Jul;35(7):954-963. doi: 10.1111/dme.13628. Epub 2018 Apr 19.

PMID:
29577424
20.

A quarter of patients with type 1 diabetes have co-existing non-islet autoimmunity: the findings of a UK population-based family study.

Kozhakhmetova A, Wyatt RC, Caygill C, Williams C, Long AE, Chandler K, Aitken RJ, Wenzlau JM, Davidson HW, Gillespie KM, Williams AJK.

Clin Exp Immunol. 2018 Jun;192(3):251-258. doi: 10.1111/cei.13115. Epub 2018 Mar 24.

21.

Displacement of Dinitrogen by Oxygen: A Methodology for the Catalytic Conversion of Diazocarbonyl Compounds to Ketocarbonyl Compounds by 2,6-Dichloropyridine-N-oxide.

Yu Y, Sha Q, Cui H, Chandler KS, Doyle MP.

Org Lett. 2018 Feb 2;20(3):776-779. doi: 10.1021/acs.orglett.7b03912. Epub 2018 Jan 18.

PMID:
29345129
22.

MINAR1 is a Notch2-binding protein that inhibits angiogenesis and breast cancer growth.

Ho RX, Meyer RD, Chandler KB, Ersoy E, Park M, Bondzie PA, Rahimi N, Xu H, Costello CE, Rahimi N.

J Mol Cell Biol. 2018 Jun 1;10(3):195-204. doi: 10.1093/jmcb/mjy002.

23.

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Popp I, Punekar M, Telford N, Stivaros S, Chandler K, Minnis M, Castleton A, Higham C, Hopewell L, Gareth Evans D, Raams A, Theil AF, Meyer S, Schindler D.

BMC Med Genet. 2018 Jan 11;19(1):7. doi: 10.1186/s12881-018-0520-1.

24.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

25.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. Review.

26.

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.

27.

Characterization of early communicative behavior in mouse models of neurofibromatosis type 1.

Maloney SE, Chandler KC, Anastasaki C, Rieger MA, Gutmann DH, Dougherty JD.

Autism Res. 2018 Jan;11(1):44-58. doi: 10.1002/aur.1853. Epub 2017 Aug 26.

28.

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

Faily S, Perveen R, Urquhart J, Chandler K, Clayton-Smith J.

Eur J Med Genet. 2017 Oct;60(10):527-532. doi: 10.1016/j.ejmg.2017.07.009. Epub 2017 Jul 12.

PMID:
28711741
29.

Quantity of alcohol drinking positively correlates with serum levels of endotoxin and markers of monocyte activation.

Liangpunsakul S, Toh E, Ross RA, Heathers LE, Chandler K, Oshodi A, McGee B, Modlik E, Linton T, Mangiacarne D, Jimenez C, Dong XC, Wang L, Tu W, Nelson DE.

Sci Rep. 2017 Jun 30;7(1):4462. doi: 10.1038/s41598-017-04669-7.

30.

Completeness of case ascertainment and availability of environmental data in Legionnaires' disease enhanced surveillance in England, 2012-2014.

Naik F, Chandler K, Rehman Y, Dabrera G.

J Infect. 2017 May;74(5):523-524. doi: 10.1016/j.jinf.2017.02.008. Epub 2017 Mar 2. No abstract available.

PMID:
28282505
31.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S.

J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. Review.

32.

Site-Specific N-Glycosylation of Endothelial Cell Receptor Tyrosine Kinase VEGFR-2.

Chandler KB, Leon DR, Meyer RD, Rahimi N, Costello CE.

J Proteome Res. 2017 Feb 3;16(2):677-688. doi: 10.1021/acs.jproteome.6b00738. Epub 2016 Dec 29.

33.

Management of alcohol misuse in patients with liver diseases.

Peng JL, Patel MP, McGee B, Liang T, Chandler K, Tayarachakul S, O'Connor S, Liangpunsakul S.

J Investig Med. 2017 Mar;65(3):673-680. doi: 10.1136/jim-2016-000254. Epub 2016 Dec 9. Review.

34.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay V, Louro P, Smith JC, Burn J, Kini U, De Burca A, FitzPatrick DR, Kinning E; DDD Study.

Eur J Med Genet. 2017 Feb;60(2):130-135. doi: 10.1016/j.ejmg.2016.11.008. Epub 2016 Nov 30.

35.

Reconstituted B cell receptor signaling reveals carbohydrate-dependent mode of activation.

Villar RF, Patel J, Weaver GC, Kanekiyo M, Wheatley AK, Yassine HM, Costello CE, Chandler KB, McTamney PM, Nabel GJ, McDermott AB, Mascola JR, Carr SA, Lingwood D.

Sci Rep. 2016 Oct 31;6:36298. doi: 10.1038/srep36298.

36.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C.

J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29.

PMID:
27572252
37.

My year as a Fulbrighter.

Chandler K.

Vet Rec. 2016 Jul 9;179(2):i-ii. doi: 10.1136/vr.i3747.

PMID:
27389764
38.

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

Bassett JK, Chandler KE, Douzgou S.

Eur J Med Genet. 2016 Aug;59(8):401-3. doi: 10.1016/j.ejmg.2016.05.008. Epub 2016 May 13.

PMID:
27184501
39.

Glycomics and glycoproteomics of membrane proteins and cell-surface receptors: Present trends and future opportunities.

Chandler KB, Costello CE.

Electrophoresis. 2016 Jun;37(11):1407-19. doi: 10.1002/elps.201500552. Epub 2016 Mar 29. Review.

40.

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S.

Eur J Paediatr Neurol. 2016 Mar;20(2):286-295. doi: 10.1016/j.ejpn.2015.11.012. Epub 2015 Dec 18. Review.

PMID:
26748598
41.

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

Briggs TA, Lokulo-Sodipe K, Chandler KE, Mackay DJ, Temple IK.

Am J Med Genet A. 2016 Jan;170A(1):170-5. doi: 10.1002/ajmg.a.37400. Epub 2015 Sep 23.

PMID:
26395259
42.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.

Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.

43.

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging.

Stivaros SM, Alston R, Wright NB, Chandler K, Bonney D, Wynn RF, Will AM, Punekar M, Loughran S, Kilday JP, Schindler D, Patel L, Meyer S.

Br J Radiol. 2015;88(1056):20150088. doi: 10.1259/bjr.20150088. Epub 2015 Sep 15.

44.

A Fulbright Scholar in New York.

Chandler K.

Vet Rec. 2015 Sep 5;177(9):i-ii. doi: 10.1136/vr.h4688. No abstract available.

PMID:
26338949
45.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.

Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.

46.

CRTAP mutation in a patient with Cole-Carpenter syndrome.

Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ.

Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21.

PMID:
25604815
47.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

48.

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Mataković L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA.

Mol Genet Metab. 2014 Dec;113(4):301-6. doi: 10.1016/j.ymgme.2014.09.010. Epub 2014 Oct 5.

PMID:
25458521
49.

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

Schneider M, Chandler K, Tischkowitz M, Meyer S.

Clin Genet. 2015 Jul;88(1):13-24. doi: 10.1111/cge.12517. Epub 2014 Nov 10. Review.

PMID:
25307146
50.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

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J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

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