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Items: 1 to 50 of 160

1.

Complete Genome Sequence of Multidrug-Resistant Salmonella enterica Serovar I 4,[5],12:i:- 2015 U.S. Pork Outbreak Isolate USDA15WA-1.

Bearson BL, Trachsel JM, Holman DB, Brunelle BW, Sivasankaran SK, Simmons M, Wasilenko J, Tillman G, Johnston JJ, Bearson SMD.

Microbiol Resour Announc. 2019 Oct 3;8(40). pii: e00791-19. doi: 10.1128/MRA.00791-19.

2.

Magnetic resonance imaging evaluation of the distribution of spray and irrigation devices within the sinonasal cavities.

Siu J, Johnston JJ, Pontre B, Inthavong K, Douglas RG.

Int Forum Allergy Rhinol. 2019 Sep;9(9):958-970. doi: 10.1002/alr.22376.

PMID:
31476267
3.

The Carboxy-Terminal Region of Flavobacterium johnsoniae SprB Facilitates Its Secretion by the Type IX Secretion System and Propulsion by the Gliding Motility Machinery.

Kulkarni SS, Johnston JJ, Zhu Y, Hying ZT, McBride MJ.

J Bacteriol. 2019 Sep 6;201(19). pii: e00218-19. doi: 10.1128/JB.00218-19. Print 2019 Oct 1.

PMID:
31262839
4.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.

J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6.

5.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

6.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1261-1262. doi: 10.1038/s41436-019-0440-2.

PMID:
30670880
7.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR.

Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5.

8.

An assay for determining the susceptibility of Salmonella isolates to commercial and household biocides.

Humayoun SB, Hiott LM, Gupta SK, Barrett JB, Woodley TA, Johnston JJ, Jackson CR, Frye JG.

PLoS One. 2018 Dec 20;13(12):e0209072. doi: 10.1371/journal.pone.0209072. eCollection 2018.

9.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C.

Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15.

10.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Erratum in: Genet Med. 2019 Jan 22;:.

PMID:
30287922
11.

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program, Manolio TA, Biesecker BB, Biesecker LG.

Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16.

12.

Ambulatory care sensitive chronic conditions: what can we learn from patients about the role of primary health care in preventing admissions?

Longman JM, Rix E, Johnston JJ, Passey ME.

Aust J Prim Health. 2018 Aug 6. doi: 10.1071/PY17191. [Epub ahead of print]

PMID:
30078392
13.

Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes.

Miller IM, Lewis KL, Lawal TA, Ng D, Johnston JJ, Biesecker BB, Biesecker LG.

Genet Med. 2019 Mar;21(3):748-752. doi: 10.1038/s41436-018-0083-8. Epub 2018 Jul 12.

14.

Adenotonsillar microbiome: an update.

Johnston JJ, Douglas R.

Postgrad Med J. 2018 Jul;94(1113):398-403. doi: 10.1136/postgradmedj-2018-135602. Epub 2018 Jun 8. Review.

PMID:
29884749
15.

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.

Lewis KL, Umstead KL, Johnston JJ, Miller IM, Thompson LJ, Fishler KP, Biesecker LG, Biesecker BB.

Am J Hum Genet. 2018 Apr 5;102(4):540-546. doi: 10.1016/j.ajhg.2018.02.009. Epub 2018 Mar 8.

16.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

17.

Disclosure of cardiac variants of uncertain significance results in an exome cohort.

Lawal TA, Lewis KL, Johnston JJ, Heidlebaugh AR, Ng D, Gaston-Johansson FG, Klein WMP, Biesecker BB, Biesecker LG.

Clin Genet. 2018 May;93(5):1022-1029. doi: 10.1111/cge.13220. Epub 2018 Mar 2.

18.

Improving implementation of the smoking cessation guidelines with pregnant women: How to support clinicians?

Longman JM, Adams CM, Johnston JJ, Passey ME.

Midwifery. 2018 Mar;58:137-144. doi: 10.1016/j.midw.2017.12.016. Epub 2017 Dec 26.

PMID:
29367150
19.

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.

Biesecker BB, Lewis KL, Umstead KL, Johnston JJ, Turbitt E, Fishler KP, Patton JH, Miller IM, Heidlebaugh AR, Biesecker LG.

JAMA Intern Med. 2018 Mar 1;178(3):338-346. doi: 10.1001/jamainternmed.2017.8049.

20.

Untangling Flavobacterium johnsoniae Gliding Motility and Protein Secretion.

Johnston JJ, Shrivastava A, McBride MJ.

J Bacteriol. 2017 Dec 20;200(2). pii: e00362-17. doi: 10.1128/JB.00362-17. Print 2018 Jan 15.

21.

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study.

Taber JM, Klein WMP, Lewis KL, Johnston JJ, Biesecker LG, Biesecker BB.

Genet Med. 2018 Mar;20(3):337-345. doi: 10.1038/gim.2017.88. Epub 2017 Jul 27.

22.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001321. doi: 10.1101/mcs.a001321. Print 2017 Jul.

23.

Neutralization of Bactericidal Activity Related to Antimicrobial Carryover in Broiler Carcass Rinse Samples.

Gamble GR, Berrang ME, Buhr RJ, Hinton A Jr, Bourassa DV, Ingram KD, Adams ES, Feldner PW, Johnston JJ.

J Food Prot. 2017 Apr;80(4):685-691. doi: 10.4315/0362-028X.JFP-16-412.

PMID:
28304195
24.

Suppurative complications of acute hematogenous osteomyelitis in children.

Johnston JJ, Murray-Krezan C, Dehority W.

J Pediatr Orthop B. 2017 Nov;26(6):491-496. doi: 10.1097/BPB.0000000000000437.

PMID:
28181919
25.

Nontyphoidal Salmonella Osteomyelitis in Immunocompetent Children Without Hemoglobinopathies: A Case Series and Systematic Review of the Literature.

Gill AN, Muller ML, Pavlik DF, Eldredge JD, Johnston JJ, Eickman MM, Dehority W.

Pediatr Infect Dis J. 2017 Sep;36(9):910-912. doi: 10.1097/INF.0000000000001555. Review.

PMID:
28134744
26.

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Patton J, Brewer C, Chien W, Johnston JJ, Griffith AJ, Biesecker LG.

Eur J Hum Genet. 2016 Jan;25(1):147-149. doi: 10.1038/ejhg.2016.140. Epub 2016 Oct 19.

27.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK.

Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.

28.

Pressure-induced localised granuloma annulare following use of an elbow splint.

Johnston JJ, Spelman L.

Prosthet Orthot Int. 2017 Jun;41(3):311-313. doi: 10.1177/0309364616665733. Epub 2016 Sep 9.

PMID:
27613591
29.

Carcass orientation and drip time affect potential surface water carryover for broiler carcasses subjected to a post-chill water dip or spray1.

Bourassa DV, Wilson KM, Bartenfeld LN, Harris CE, Howard AK, Ingram KD, Hinton A Jr, Adams ES, Berrang ME, Feldner PW, Gamble GR, Frye JG, Jackson CR, Johnston JJ, Buhr RJ.

Poult Sci. 2017 Jan 1;96(1):241-245. Epub 2016 Sep 2.

PMID:
27591281
30.

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Ng D, Hong CS, Singh LN, Johnston JJ, Mullikin JC, Biesecker LG.

Genet Med. 2017 Mar;19(3):357-361. doi: 10.1038/gim.2016.105. Epub 2016 Aug 18.

31.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available.

32.

Effect of Simulated Sanitizer Carryover on Recovery of Salmonella from Broiler Carcass Rinsates.

Gamble GR, Berrang ME, Buhr RJ, Hinton A Jr, Bourassa DV, Johnston JJ, Ingram KD, Adams ES, Feldner PW.

J Food Prot. 2016 May;79(5):710-4. doi: 10.4315/0362-028X.JFP-15-461.

PMID:
27296416
33.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

34.

Non-Type b Haemophilus influenzae Septic Arthritis in Children.

Pavlik DF, Johnston JJ, Eldredge JD, Dehority W.

J Pediatric Infect Dis Soc. 2017 Sep 1;6(3):e134-e139. doi: 10.1093/jpids/piw024.

PMID:
27150112
35.

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Wentzensen IM, Johnston JJ, Patton JH, Graham JM, Sapp JC, Biesecker LG.

Hum Genome Var. 2016 Feb 4;3:15069. doi: 10.1038/hgv.2015.69. eCollection 2016.

36.

Perfluorooctane Sulfonate Plasma Half-Life Determination and Long-Term Tissue Distribution in Beef Cattle (Bos taurus).

Lupton SJ, Dearfield KL, Johnston JJ, Wagner S, Huwe JK.

J Agric Food Chem. 2015 Dec 30;63(51):10988-94. doi: 10.1021/acs.jafc.5b04565. Epub 2015 Dec 18.

PMID:
26684745
37.

Diagnosing Potentially Preventable Hospitalisations (DaPPHne): protocol for a mixed-methods data-linkage study.

Passey ME, Longman JM, Johnston JJ, Jorm L, Ewald D, Morgan GG, Rolfe M, Chalker B.

BMJ Open. 2015 Nov 23;5(11):e009879. doi: 10.1136/bmjopen-2015-009879.

38.

Analysis of Nitrosamines in Cooked Bacon by QuEChERS Sample Preparation and Gas Chromatography-Tandem Mass Spectrometry with Backflushing.

Lehotay SJ, Sapozhnikova Y, Han L, Johnston JJ.

J Agric Food Chem. 2015 Dec 2;63(47):10341-51. doi: 10.1021/acs.jafc.5b04527. Epub 2015 Nov 17.

PMID:
26542769
39.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG.

Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.

40.

Generalization of category knowledge and dimensional categorization in humans (Homo sapiens) and nonhuman primates (Macaca mulatta).

Smith JD, Zakrzewski AC, Johnston JJ, Roeder JL, Boomer J, Ashby FG, Church BA.

J Exp Psychol Anim Learn Cogn. 2015 Oct;41(4):322-35. doi: 10.1037/xan0000071. Epub 2015 Jul 13.

41.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

42.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM Jr.

Am J Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131. Epub 2015 Apr 29.

43.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Wentzensen IM, Johnston JJ, Keppler-Noreuil K, Acrich K, David K, Johnson KD, Graham JM Jr, Sapp JC, Biesecker LG.

Hum Genome Var. 2015 Nov 19;2:15045. doi: 10.1038/hgv.2015.45. eCollection 2015.

44.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

45.

Cross-modal information integration in category learning.

Smith JD, Johnston JJ, Musgrave RD, Zakrzewski AC, Boomer J, Church BA, Ashby FG.

Atten Percept Psychophys. 2014 Jul;76(5):1473-84. doi: 10.3758/s13414-014-0659-6.

46.

Distribution and excretion of perfluorooctane sulfonate (PFOS) in beef cattle (Bos taurus).

Lupton SJ, Huwe JK, Smith DJ, Dearfield KL, Johnston JJ.

J Agric Food Chem. 2014 Feb 5;62(5):1167-73. doi: 10.1021/jf404355b. Epub 2014 Jan 28.

PMID:
24443932
47.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T.

J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.

48.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG.

Am J Med Genet A. 2014 Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212. Epub 2013 Nov 20.

49.

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program.

Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7.

50.

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Johnston JJ, Wiggs EA.

Am J Med Genet A. 2013 Dec;161A(12):2964-71. doi: 10.1002/ajmg.a.36245. Epub 2013 Nov 5.

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