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Items: 1 to 50 of 343

1.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, Ellaway C, Christodoulou J.

Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.

2.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.

Hum Mutat. 2020 Mar;41(3):591-599. doi: 10.1002/humu.23964. Epub 2019 Dec 24.

PMID:
31821646
3.

Breast cancer survivorship care plans: what are they covering and how well do they align with national guidelines?

Choi Y, Smith KC, Shukla A, Blackford AL, Wolff AC, Thorner E, Peairs KS, El Ayass W, Njoku P, Papathakis K, Riley CD, Zafman N, Asrari F, Camp M, Wright JL, Mayonado NJ, White SM, Snyder CF.

Breast Cancer Res Treat. 2020 Jan;179(2):415-424. doi: 10.1007/s10549-019-05480-w. Epub 2019 Oct 24.

PMID:
31650346
4.

Problems defining 'hypotension' in hip fracture anaesthesia.

White SM, Griffiths R.

Br J Anaesth. 2019 Dec;123(6):e528-e529. doi: 10.1016/j.bja.2019.09.002. Epub 2019 Oct 3. No abstract available.

PMID:
31587834
5.

Abandoning inhalational anaesthesia.

White SM, Shelton CL.

Anaesthesia. 2019 Sep 18. doi: 10.1111/anae.14853. [Epub ahead of print] No abstract available.

PMID:
31531970
6.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17.

PMID:
31530938
7.

A bibliometric analysis of the conversion and reporting of pilot studies published in six anaesthesia journals.

Charlesworth M, Klein AA, White SM.

Anaesthesia. 2020 Feb;75(2):247-253. doi: 10.1111/anae.14817. Epub 2019 Aug 31. Review.

PMID:
31472021
8.

A Yap-Myc-Sox2-p53 Regulatory Network Dictates Metabolic Homeostasis and Differentiation in Kras-Driven Pancreatic Ductal Adenocarcinomas.

Murakami S, Nemazanyy I, White SM, Chen H, Nguyen CDK, Graham GT, Saur D, Pende M, Yi C.

Dev Cell. 2019 Oct 7;51(1):113-128.e9. doi: 10.1016/j.devcel.2019.07.022. Epub 2019 Aug 22.

PMID:
31447265
9.

Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.

Jayasinghe K, White SM, Kerr PG, MacGregor D, Stark Z, Wilkins E, Simons C, Mallett A, Quinlan C.

BMC Nephrol. 2019 Aug 22;20(1):330. doi: 10.1186/s12882-019-1474-z.

10.

Sudden Cardiac Deaths in Adults with Congenital Heart Disease with Structural Abnormalities: A Retrospective Review of Cases in the Cook County Medical Examiner's Office.

Gitto L, Serinelli S, Arunkumar P, White SM.

J Forensic Sci. 2020 Jan;65(1):117-127. doi: 10.1111/1556-4029.14165. Epub 2019 Aug 12.

PMID:
31404479
11.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM.

Eur J Hum Genet. 2019 Dec;27(12):1791-1799. doi: 10.1038/s41431-019-0471-9. Epub 2019 Jul 18.

PMID:
31320747
12.

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA.

Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20.

PMID:
31222966
13.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Bauer CK, Schneeberger PE, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K.

Am J Hum Genet. 2019 Jun 6;104(6):1139-1157. doi: 10.1016/j.ajhg.2019.04.012. Epub 2019 May 30.

14.

Floating-Harbor Syndrome.

Nowaczyk MJM, Nikkel SM, White SM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2012 Nov 29 [updated 2019 May 23].

15.

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.

Schofield D, Rynehart L, Shresthra R, White SM, Stark Z.

Genet Med. 2019 Nov;21(11):2586-2593. doi: 10.1038/s41436-019-0534-x. Epub 2019 May 21.

PMID:
31110331
16.

YAP/TAZ Inhibition Induces Metabolic and Signaling Rewiring Resulting in Targetable Vulnerabilities in NF2-Deficient Tumor Cells.

White SM, Avantaggiati ML, Nemazanyy I, Di Poto C, Yang Y, Pende M, Gibney GT, Ressom HW, Field J, Atkins MB, Yi C.

Dev Cell. 2019 May 6;49(3):425-443.e9. doi: 10.1016/j.devcel.2019.04.014.

PMID:
31063758
17.

Offsetting the genotoxic effects of sleep disruption.

White SM.

Anaesthesia. 2019 Jun;74(6):815. doi: 10.1111/anae.14674. No abstract available.

PMID:
31063211
18.

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.

Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.

PMID:
31058441
19.

Cutaneous nontuberculous mycobacteria infections: A retrospective case series of 78 patients from the Texas Gulf Coast region.

Philips RC, Hoyer PE, White SM, Tinkey KT, Loeffelholz M, Andersen CR, Wilkerson MG, Gibson BR, Kelly BC.

J Am Acad Dermatol. 2019 Sep;81(3):730-739. doi: 10.1016/j.jaad.2019.04.022. Epub 2019 Apr 16.

PMID:
31002850
20.

A new role for anaesthetists in environmentally-sustainable healthcare.

Shelton CL, McBain SC, Mortimer F, White SM.

Anaesthesia. 2019 Sep;74(9):1091-1094. doi: 10.1111/anae.14647. Epub 2019 Mar 28. No abstract available.

PMID:
30919406
21.

Intradermal SynCon® Ebola GP DNA Vaccine Is Temperature Stable and Safely Demonstrates Cellular and Humoral Immunogenicity Advantages in Healthy Volunteers.

Tebas P, Kraynyak KA, Patel A, Maslow JN, Morrow MP, Sylvester AJ, Knoblock D, Gillespie E, Amante D, Racine T, McMullan T, Jeong M, Roberts CC, Park YK, Boyer J, Broderick KE, Kobinger GP, Bagarazzi M, Weiner DB, Sardesai NY, White SM.

J Infect Dis. 2019 Jul 2;220(3):400-410. doi: 10.1093/infdis/jiz132.

PMID:
30891607
22.

Anaesthesia type and cement reactions in hip fracture surgery.

White SM, Griffiths R.

Anaesthesia. 2019 Apr;74(4):543-544. doi: 10.1111/anae.14623. No abstract available.

PMID:
30847911
23.

Interspecies Bombolitins Exhibit Structural Diversity upon Membrane Binding, Leading to Cell Specificity.

Roberson MG, Smith DK, White SM, Wallace IS, Tucker MJ.

Biophys J. 2019 Mar 19;116(6):1064-1074. doi: 10.1016/j.bpj.2019.02.005. Epub 2019 Feb 15.

PMID:
30824115
24.

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
25.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Tan NB, Tan TY, Martyn MM, Savarirayan R, Amor DJ, Moody A, White SM, Stark Z.

J Paediatr Child Health. 2019 Nov;55(11):1309-1314. doi: 10.1111/jpc.14398. Epub 2019 Feb 12.

PMID:
30756437
26.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.

PMID:
30740813
27.

Evidence-based Strategies for Advanced Heart Failure.

White SM.

Crit Care Nurs Clin North Am. 2019 Mar;31(1):1-13. doi: 10.1016/j.cnc.2018.11.006. Review.

PMID:
30736930
28.

Uncovering mechanisms behind mosquito seasonality by integrating mathematical models and daily empirical population data: Culex pipiens in the UK.

Ewing DA, Purse BV, Cobbold CA, Schäfer SM, White SM.

Parasit Vectors. 2019 Feb 7;12(1):74. doi: 10.1186/s13071-019-3321-2.

29.

The complex entanglement of Hippo-Yap/Taz signaling in tumor immunity.

White SM, Murakami S, Yi C.

Oncogene. 2019 Apr;38(16):2899-2909. doi: 10.1038/s41388-018-0649-6. Epub 2019 Jan 7. Review.

PMID:
30617303
30.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

31.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

32.

Simultaneous Blood Flow Measurement and Dermoscopy of Skin Lesions Using Dual-Mode Dermascope.

White SM, Valdebran M, Kelly KM, Choi B.

Sci Rep. 2018 Nov 16;8(1):16941. doi: 10.1038/s41598-018-35107-x.

33.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

34.

Wearable speckle plethysmography (SPG) for characterizing microvascular flow and resistance.

Ghijsen M, Rice TB, Yang B, White SM, Tromberg BJ.

Biomed Opt Express. 2018 Jul 30;9(8):3937-3952. doi: 10.1364/BOE.9.003937. eCollection 2018 Aug 1.

35.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PMID:
30293988
36.

Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Feb;21(2):516. doi: 10.1038/s41436-018-0078-5.

PMID:
30158691
37.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
38.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF.

NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.

39.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM.

Semin Pediatr Neurol. 2018 Jul;26:2-9. doi: 10.1016/j.spen.2017.03.001. Epub 2017 Apr 5.

PMID:
29961509
40.

Anaesthetic aspects in the treatment of fragility fracture patients.

White SM, Foss NB, Griffiths R.

Injury. 2018 Aug;49(8):1403-1408. doi: 10.1016/j.injury.2018.06.027. Epub 2018 Jun 22. Review.

PMID:
29958684
41.

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Shanks GW, Tester DJ, Ackerman JP, Simpson MA, Behr ER, White SM, Ackerman MJ.

Circulation. 2018 Jun 19;137(25):2705-2715. doi: 10.1161/CIRCULATIONAHA.117.031053.

PMID:
29915097
42.

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15. Erratum in: Genet Med. 2018 Aug 29;:.

PMID:
29765138
43.

Report of a bi-allelic truncating germline mutation in TP53.

Brown NJ, Bhatia K, Teague J, White SM, Lo P, Challis J, Beshay V, Sullivan M, Malkin D, Hansford JR.

Fam Cancer. 2019 Jan;18(1):101-104. doi: 10.1007/s10689-018-0087-1.

PMID:
29737433
44.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I.

Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22.

45.

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance.

Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15.

PMID:
29543227
46.

International Fragility Fracture Network Delphi consensus statement on the principles of anaesthesia for patients with hip fracture.

White SM, Altermatt F, Barry J, Ben-David B, Coburn M, Coluzzi F, Degoli M, Dillane D, Foss NB, Gelmanas A, Griffiths R, Karpetas G, Kim JH, Kluger M, Lau PW, Matot I, McBrien M, McManus S, Montoya-Pelaez LF, Moppett IK, Parker M, Porrill O, Sanders RD, Shelton C, Sieber F, Trikha A, Xuebing X.

Anaesthesia. 2018 Jul;73(7):863-874. doi: 10.1111/anae.14225. Epub 2018 Mar 6. No abstract available.

47.

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Donoghue SE, Pitt JJ, Boneh A, White SM.

J Pediatr Endocrinol Metab. 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501.

PMID:
29455191
48.

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N; Melbourne Genomics Health Alliance, Gaff C, White SM, Tan TY.

Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. Epub 2018 Feb 16.

49.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
50.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Dudding-Byth T, Baxter A, Holliday EG, Hackett A, O'Donnell S, White SM, Attia J, Brunner H, de Vries B, Koolen D, Kleefstra T, Ratwatte S, Riveros C, Brain S, Lovell BC.

BMC Biotechnol. 2017 Dec 19;17(1):90. doi: 10.1186/s12896-017-0410-1.

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