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Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]


School Functioning in Adolescents With Chronic Fatigue Syndrome.

Knight SJ, Politis J, Garnham C, Scheinberg A, Tollit MA.

Front Pediatr. 2018 Oct 16;6:302. doi: 10.3389/fped.2018.00302. eCollection 2018.


Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.

Scheuner MT, Russell MM, Chanfreau-Coffinier C, Peredo J, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI.

Genet Med. 2018 Oct 31. doi: 10.1038/s41436-018-0344-6. [Epub ahead of print]


A logic model for precision medicine implementation informed by stakeholder views and implementation science.

Chanfreau-Coffinier C, Peredo J, Russell MM, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI, Scheuner MT.

Genet Med. 2018 Oct 23. doi: 10.1038/s41436-018-0315-y. [Epub ahead of print]


Factors Associated with Family Caregivers' Confidence in Future Surrogate Decision Making for Persons with Cancer.

Dionne-Odom JN, Ejem D, Azuero A, Taylor RA, Rocque GB, Turkman Y, Thompson MA, Knight SJ, Martin MY, Bakitas MA.

J Palliat Med. 2018 Aug 21. doi: 10.1089/jpm.2018.0148. [Epub ahead of print]


Detection of opioids in umbilical cord lysates: an antibody-based rapid screening approach.

Knight SJ, Smith AD, Wright TE, Collier AC.

Toxicol Mech Methods. 2018 Jul 31:1-26. doi: 10.1080/15376516.2018.1506850. [Epub ahead of print]


Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.

Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.


Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.

Klintman J, Barmpouti K, Knight SJL, Robbe P, Dreau H, Clifford R, Ridout K, Burns A, Timbs A, Bruce D, Antoniou P, Sosinsky A, Becq J, Bentley D, Hillmen P, Taylor JC, Caulfield M, Schuh AH.

Br J Haematol. 2018 May 29. doi: 10.1111/bjh.15406. [Epub ahead of print]


Planning post-discharge destination for gastrointestinal surgery patients: Room for improvement?

Balentine CJ, Kenzik K, Chu DI, Morris MS, Knight SJ, Brown CJ, Bhatia S.

Am J Surg. 2018 Nov;216(5):912-918. doi: 10.1016/j.amjsurg.2018.05.004. Epub 2018 May 18.


Incongruence between women's survey- and interview-determined decision control preferences: A mixed methods study of decision-making in metastatic breast cancer.

Ejem D, Dionne-Odom JN, Turkman Y, Knight SJ, Willis D, Kaufman PA, Bakitas M.

Psychooncology. 2018 Aug;27(8):1950-1957. doi: 10.1002/pon.4747. Epub 2018 May 22.


Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Schuh A, Dreau H, Knight SJL, Ridout K, Mizani T, Vavoulis D, Colling R, Antoniou P, Kvikstad EM, Pentony MM, Hamblin A, Protheroe A, Parton M, Shah KA, Orosz Z, Athanasou N, Hassan B, Flanagan AM, Ahmed A, Winter S, Harris A, Tomlinson I, Popitsch N, Church D, Taylor JC.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002279. doi: 10.1101/mcs.a002279. Print 2018 Apr.


Improving shared decision-making in chronic lymphocytic leukemia through multidisciplinary education.

Rocque GB, Williams CP, Halilova KI, Borate U, Jackson BE, Van Laar ES, Pisu M, Butler TW, Davis RS, Mehta A, Knight SJ, Safford MM.

Transl Behav Med. 2018 Mar 1;8(2):175-182. doi: 10.1093/tbm/ibx034.


Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, Kanapin A, Samsonova A, Vavoulis DV, Ross MT, Kingsbury Z, Cabes M, Ramos SDC, Page S, Dreau H, Ridout K, Jones LJ, Tuff-Lacey A, Henderson S, Mason J, Buffa FM, Verrill C, Maldonado-Perez D, Roxanis I, Collantes E, Browning L, Dhar S, Damato S, Davies S, Caulfield M, Bentley DR, Taylor JC, Turnbull C, Schuh A; 100,000 Genomes Project.

Genet Med. 2018 Oct;20(10):1196-1205. doi: 10.1038/gim.2017.241. Epub 2018 Feb 1.


Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.

Burns A, Alsolami R, Becq J, Stamatopoulos B, Timbs A, Bruce D, Robbe P, Vavoulis D, Clifford R, Cabes M, Dreau H, Taylor J, Knight SJL, Mansson R, Bentley D, Beekman R, Martín-Subero JI, Campo E, Houlston RS, Ridout KE, Schuh A.

Leukemia. 2018 Feb;32(2):573. doi: 10.1038/leu.2017.311. Epub 2017 Nov 21.


Patient preferences for antiretroviral therapy: effectiveness, quality of life, access and novel delivery methods.

Eaton EF, McDavid C, Banasiewicz MK, Mugavero MJ, Knight SJ.

Patient Prefer Adherence. 2017 Sep 18;11:1585-1590. doi: 10.2147/PPA.S142643. eCollection 2017.


Social Determinants of Adherence to Pulmonary Rehabilitation for Chronic Obstructive Pulmonary Disease.

Oates GR, Hamby BW, Stepanikova I, Knight SJ, Bhatt SP, Hitchcock J, Schumann C, Dransfield MT.

COPD. 2017 Dec;14(6):610-617. doi: 10.1080/15412555.2017.1379070. Epub 2017 Oct 11.


Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.

Buchanan J, Wordsworth S, Clifford R, Robbe P, Taylor JC, Schuh A, Knight SJL.

Pharmacoeconomics. 2017 Aug;35(8):845-858. doi: 10.1007/s40273-017-0519-z.


Sleep Quality in Adolescents With Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME).

Josev EK, Jackson ML, Bei B, Trinder J, Harvey A, Clarke C, Snodgrass K, Scheinberg A, Knight SJ.

J Clin Sleep Med. 2017 Sep 15;13(9):1057-1066. doi: 10.5664/jcsm.6722.


Racial disparities in length-of-stay persist even with no postoperative complications.

Giglia MD, DeRussy A, Morris MS, Richman JS, Hawn MT, Vickers SM, Knight SJ, Chu DI.

J Surg Res. 2017 Jun 15;214:14-22. doi: 10.1016/j.jss.2017.02.063. Epub 2017 Mar 6.


Enhanced Recovery After Surgery (ERAS) Eliminates Racial Disparities in Postoperative Length of Stay After Colorectal Surgery.

Wahl TS, Goss LE, Morris MS, Gullick AA, Richman JS, Kennedy GD, Cannon JA, Vickers SM, Knight SJ, Simmons JW, Chu DI.

Ann Surg. 2018 Dec;268(6):1026-1035. doi: 10.1097/SLA.0000000000002307.


Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.

Burns A, Alsolami R, Becq J, Stamatopoulos B, Timbs A, Bruce D, Robbe P, Vavoulis D, Clifford R, Cabes M, Dreau H, Taylor J, Knight SJL, Mansson R, Bentley D, Beekman R, Martín-Subero JI, Campo E, Houlston RS, Ridout KE, Schuh A.

Leukemia. 2018 Feb;32(2):332-342. doi: 10.1038/leu.2017.177. Epub 2017 Jun 6. Erratum in: Leukemia. 2017 Nov 21;:.


Changes in chondrolabral mechanics, coverage, and congruency following peri-acetabular osteotomy for treatment of acetabular retroversion: A patient-specific finite element study.

Knight SJ, Abraham CL, Peters CL, Weiss JA, Anderson AE.

J Orthop Res. 2017 Nov;35(11):2567-2576. doi: 10.1002/jor.23566. Epub 2017 Apr 24.


Patient-specific chondrolabral contact mechanics in patients with acetabular dysplasia following treatment with peri-acetabular osteotomy.

Abraham CL, Knight SJ, Peters CL, Weiss JA, Anderson AE.

Osteoarthritis Cartilage. 2017 May;25(5):676-684. doi: 10.1016/j.joca.2016.11.016. Epub 2016 Dec 3.


The Language of Stewardship: Is the "Low-Value" Label Overused?

Riggs KR, Knight SJ.

Mayo Clin Proc. 2017 Jan;92(1):11-14. doi: 10.1016/j.mayocp.2016.09.011. Epub 2016 Nov 11. No abstract available.


Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U.

Clin Case Rep. 2016 Aug 23;4(10):952-956. eCollection 2016 Oct.


Erratum to: Military and veteran health behavior research and practice: challenges and opportunities.

Haibach JP, Haibach MA, Hall KS, Masheb RM, Little MA, Shepardson RL, Dobmeyer AC, Funderburk JS, Hunter CL, Dundon M, Hausmann LR, Trynosky SK, Goodrich DE, Kilbourne AM, Knight SJ, Talcott GW, Goldstein M.

J Behav Med. 2017 Feb;40(1):227-228. doi: 10.1007/s10865-016-9801-3. No abstract available.


Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K.

Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. Epub 2016 Sep 13.


Military and veteran health behavior research and practice: challenges and opportunities.

Haibach JP, Haibach MA, Hall KS, Masheb RM, Little MA, Shepardson RL, Dobmeyer AC, Funderburk JS, Hunter CL, Dundon M, Hausmann LR, Trynosky SK, Goodrich DE, Kilbourne AM, Knight SJ, Talcott GW, Goldstein MG.

J Behav Med. 2017 Feb;40(1):175-193. doi: 10.1007/s10865-016-9794-y. Epub 2016 Sep 27. Erratum in: J Behav Med. 2017 Feb;40(1):227-228.


Postoperative 30-day Readmission: Time to Focus on What Happens Outside the Hospital.

Morris MS, Graham LA, Richman JS, Hollis RH, Jones CE, Wahl T, Itani KM, Mull HJ, Rosen AK, Copeland L, Burns E, Telford G, Whittle J, Wilson M, Knight SJ, Hawn MT.

Ann Surg. 2016 Oct;264(4):621-31. doi: 10.1097/SLA.0000000000001855.


Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.

Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.


A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U.

Clin Genet. 2016 Sep;90(3):258-62. doi: 10.1111/cge.12773. Epub 2016 Apr 1.


Sporulation in soil as an overwinter survival strategy in Saccharomyces cerevisiae.

Knight SJ, Goddard MR.

FEMS Yeast Res. 2016 Feb;16(1):fov102. doi: 10.1093/femsyr/fov102. Epub 2015 Nov 13.


Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

Guièze R, Robbe P, Clifford R, de Guibert S, Pereira B, Timbs A, Dilhuydy MS, Cabes M, Ysebaert L, Burns A, Nguyen-Khac F, Davi F, Véronèse L, Combes P, Le Garff-Tavernier M, Leblond V, Merle-Béral H, Alsolami R, Hamblin A, Mason J, Pettitt A, Hillmen P, Taylor J, Knight SJ, Tournilhac O, Schuh A.

Blood. 2015 Oct 29;126(18):2110-7. doi: 10.1182/blood-2015-05-647578. Epub 2015 Aug 27.


Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF.

Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.


Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U.

Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8.


Value of Genetic Testing for Hereditary Colorectal Cancer in a Probability-Based US Online Sample.

Knight SJ, Mohamed AF, Marshall DA, Ladabaum U, Phillips KA, Walsh JM.

Med Decis Making. 2015 Jan 14. pii: 0272989X14565820. [Epub ahead of print]


De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO.

J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.


Neurodevelopmental outcomes in infants and children with single-suture craniosynostosis: a systematic review.

Knight SJ, Anderson VA, Spencer-Smith MM, Da Costa AC.

Dev Neuropsychol. 2014;39(3):159-86. doi: 10.1080/87565641.2014.886690. Review.


Decision making and prostate cancer screening.

Knight SJ.

Urol Clin North Am. 2014 May;41(2):257-66. doi: 10.1016/j.ucl.2014.01.008. Epub 2014 Feb 28. Review.


Working memory abilities among children treated for medulloblastoma: parent report and child performance.

Knight SJ, Conklin HM, Palmer SL, Schreiber JE, Armstrong CL, Wallace D, Bonner M, Swain MA, Evankovich KD, Mabbott DJ, Boyle R, Huang Q, Zhang H, Anderson VA, Gajjar A.

J Pediatr Psychol. 2014 Jun;39(5):501-11. doi: 10.1093/jpepsy/jsu009. Epub 2014 Mar 12.


Examination of risk factors for intellectual and academic outcomes following treatment for pediatric medulloblastoma.

Schreiber JE, Gurney JG, Palmer SL, Bass JK, Wang M, Chen S, Zhang H, Swain M, Chapieski ML, Bonner MJ, Mabbott DJ, Knight SJ, Armstrong CL, Boyle R, Gajjar A.

Neuro Oncol. 2014 Aug;16(8):1129-36. doi: 10.1093/neuonc/nou006. Epub 2014 Feb 3.


Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.

Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.


Patient-physician communication about early stage prostate cancer: analysis of overall visit structure.

Henry SG, Czarnecki D, Kahn VC, Chou WY, Fagerlin A, Ubel PA, Rovner DR, Alexander SC, Knight SJ, Holmes-Rovner M.

Health Expect. 2015 Oct;18(5):1757-68. doi: 10.1111/hex.12168. Epub 2013 Dec 22.


SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A.

Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847. Epub 2013 Dec 12.


Development and validation of a questionnaire to detect behavior change in multiple advance care planning behaviors.

Sudore RL, Stewart AL, Knight SJ, McMahan RD, Feuz M, Miao Y, Barnes DE.

PLoS One. 2013 Sep 5;8(9):e72465. doi: 10.1371/journal.pone.0072465. eCollection 2013.


Symptom management strategies for men with early-stage prostate cancer: results from the Prostate Cancer Patient Education Program (PC PEP).

Vij A, Kowalkowski MA, Hart T, Goltz HH, Hoffman DJ, Knight SJ, Caroll PR, Latini DM.

J Cancer Educ. 2013 Dec;28(4):755-61. doi: 10.1007/s13187-013-0538-1.


A novel website to prepare diverse older adults for decision making and advance care planning: a pilot study.

Sudore RL, Knight SJ, McMahan RD, Feuz M, Farrell D, Miao Y, Barnes DE.

J Pain Symptom Manage. 2014 Apr;47(4):674-86. doi: 10.1016/j.jpainsymman.2013.05.023. Epub 2013 Aug 21.


Reasons for not prescribing guideline-recommended medications to adults with heart failure.

Steinman MA, Dimaano L, Peterson CA, Heidenreich PA, Knight SJ, Fung KZ, Kaboli PJ.

Med Care. 2013 Oct;51(10):901-7. doi: 10.1097/MLR.0b013e3182a3e525.


Early neurodevelopment in infants with deformational plagiocephaly.

Knight SJ, Anderson VA, Meara JG, Da Costa AC.

J Craniofac Surg. 2013 Jul;24(4):1225-8. doi: 10.1097/SCS.0b013e318299777e.


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