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Items: 1 to 50 of 86

1.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC.

Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Review.

PMID:
30677142
2.

Fatal drowning in the Western Cape, South Africa: a 7-year retrospective, epidemiological study.

Saunders CJ, Adriaanse R, Simons A, van Niekerk A.

Inj Prev. 2018 Nov 24. pii: injuryprev-2018-042945. doi: 10.1136/injuryprev-2018-042945. [Epub ahead of print]

3.

Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach.

Gibbon A, Saunders CJ, Collins M, Gamieldien J, September AV.

PLoS One. 2018 Oct 25;13(10):e0205860. doi: 10.1371/journal.pone.0205860. eCollection 2018.

4.

A century of genetic variation inferred from a persistent soil-stored seed bank.

Summers JL, Bernik B, Saunders CJ, McLachlan JS, Blum MJ.

Evol Appl. 2018 Jul 29;11(9):1715-1731. doi: 10.1111/eva.12675. eCollection 2018 Oct.

5.

Unexpected role of a conserved domain in the first extracellular loop in G protein-coupled receptor trafficking.

Rizzo MJ, Evans JP, Burt M, Saunders CJ, Johnson EC.

Biochem Biophys Res Commun. 2018 Sep 10;503(3):1919-1926. doi: 10.1016/j.bbrc.2018.07.136. Epub 2018 Jul 29.

PMID:
30064912
6.

Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Dec;19(4):261-262. doi: 10.1007/s10048-018-0554-8.

PMID:
29992365
7.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Aug;19(3):205-213. doi: 10.1007/s10048-018-0551-y. Epub 2018 Jun 20. Erratum in: Neurogenetics. 2018 Jul 11;:.

PMID:
29926239
8.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF.

NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018.

9.

Keeping our heads above water: A systematic review of fatal drowning in South Africa.

Saunders CJ, Sewduth D, Naidoo N.

S Afr Med J. 2017 Dec 13;108(1):61-68. doi: 10.7196/SAMJ.2017.v108i1.11090.

PMID:
29262981
10.

The interaction of polymorphisms in extracellular matrix genes and underlying miRNA motifs that modulate susceptibility to anterior cruciate ligament rupture.

Willard K, Mannion S, Saunders CJ, Collins M, September AV.

J Sci Med Sport. 2018 Jan;21(1):22-28. doi: 10.1016/j.jsams.2017.08.017. Epub 2017 Sep 1.

PMID:
28927971
11.

CALHM1-Mediated ATP Release and Ciliary Beat Frequency Modulation in Nasal Epithelial Cells.

Workman AD, Carey RM, Chen B, Saunders CJ, Marambaud P, Mitchell CH, Tordoff MG, Lee RJ, Cohen NA.

Sci Rep. 2017 Jul 27;7(1):6687. doi: 10.1038/s41598-017-07221-9.

12.

Environmental surveillance identifies multiple introductions of MRSA CC398 in an Equine Veterinary Hospital in the UK, 2011-2016.

Bortolami A, Williams NJ, McGowan CM, Kelly PG, Archer DC, Corrò M, Pinchbeck G, Saunders CJ, Timofte D.

Sci Rep. 2017 Jul 14;7(1):5499. doi: 10.1038/s41598-017-05559-8.

13.

Variation among Consent Forms for Clinical Whole Exome Sequencing.

Fowler SA, Saunders CJ, Hoffman MA.

J Genet Couns. 2018 Feb;27(1):104-114. doi: 10.1007/s10897-017-0127-2. Epub 2017 Jul 8.

14.

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V, Dotta L, Giardino G, Cirillo E, Lougaris V, D'Assante R, Prandini A, Consolini R, Farrow EG, Thiffault I, Saunders CJ, Leonardi A, Plebani A, Badolato R, Pignata C.

Front Immunol. 2016 Nov 7;7:466. eCollection 2016.

15.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M.

Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.

16.

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF.

NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016.

17.

A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis.

Alton EWFW, Armstrong DK, Ashby D, Bayfield KJ, Bilton D, Bloomfield EV, Boyd AC, Brand J, Buchan R, Calcedo R, Carvelli P, Chan M, Cheng SH, Collie DS, Cunningham S, Davidson HE, Davies G, Davies JC, Davies LA, Dewar MH, Doherty A, Donovan J, Dwyer NS, Elgmati HI, Featherstone RF, Gavino J, Gea-Sorli S, Geddes DM, Gibson JSR, Gill DR, Greening AP, Griesenbach U, Hansell DM, Harman K, Higgins TE, Hodges SL, Hyde SC, Hyndman L, Innes JA, Jacob J, Jones N, Keogh BF, Limberis MP, Lloyd-Evans P, Maclean AW, Manvell MC, McCormick D, McGovern M, McLachlan G, Meng C, Montero MA, Milligan H, Moyce LJ, Murray GD, Nicholson AG, Osadolor T, Parra-Leiton J, Porteous DJ, Pringle IA, Punch EK, Pytel KM, Quittner AL, Rivellini G, Saunders CJ, Scheule RK, Sheard S, Simmonds NJ, Smith K, Smith SN, Soussi N, Soussi S, Spearing EJ, Stevenson BJ, Sumner-Jones SG, Turkkila M, Ureta RP, Waller MD, Wasowicz MY, Wilson JM, Wolstenholme-Hogg P; on behalf of the UK Cystic Fibrosis Gene Therapy Consortium.

Southampton (UK): NIHR Journals Library; 2016 Jul.

18.

Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes.

Saunders CJ, Jalali Sefid Dashti M, Gamieldien J.

Sci Rep. 2016 Jan 25;6:19820. doi: 10.1038/srep19820.

19.

A role for airway taste receptor modulation in the treatment of upper respiratory infections.

Douglas JE, Saunders CJ, Reed DR, Cohen NA.

Expert Rev Respir Med. 2016 Feb;10(2):157-70. doi: 10.1586/17476348.2016.1135742. Epub 2016 Jan 22. Review.

20.

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

Giardino G, Gallo V, Somma D, Farrow EG, Thiffault I, D'Assante R, Donofrio V, Paciolla M, Ursini MV, Leonardi A, Saunders CJ, Pignata C.

J Allergy Clin Immunol. 2016 May;137(5):1591-1595.e4. doi: 10.1016/j.jaci.2015.09.050. Epub 2015 Nov 26. No abstract available.

PMID:
26632527
21.

IL-1 Receptor Antagonist Inhibits Early Granulation Formation.

Nicolli EA, Ghosh A, Haft S, Frank R, Saunders CJ, Cohen N, Mirza N.

Ann Otol Rhinol Laryngol. 2016 Apr;125(4):284-9. doi: 10.1177/0003489415610588. Epub 2015 Nov 1.

PMID:
26522467
22.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT.

J Gen Physiol. 2015 Nov;146(5):399-410. doi: 10.1085/jgp.201511444.

23.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.

24.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.

Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8.

25.

Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial.

Alton EWFW, Armstrong DK, Ashby D, Bayfield KJ, Bilton D, Bloomfield EV, Boyd AC, Brand J, Buchan R, Calcedo R, Carvelli P, Chan M, Cheng SH, Collie DDS, Cunningham S, Davidson HE, Davies G, Davies JC, Davies LA, Dewar MH, Doherty A, Donovan J, Dwyer NS, Elgmati HI, Featherstone RF, Gavino J, Gea-Sorli S, Geddes DM, Gibson JSR, Gill DR, Greening AP, Griesenbach U, Hansell DM, Harman K, Higgins TE, Hodges SL, Hyde SC, Hyndman L, Innes JA, Jacob J, Jones N, Keogh BF, Limberis MP, Lloyd-Evans P, Maclean AW, Manvell MC, McCormick D, McGovern M, McLachlan G, Meng C, Montero MA, Milligan H, Moyce LJ, Murray GD, Nicholson AG, Osadolor T, Parra-Leiton J, Porteous DJ, Pringle IA, Punch EK, Pytel KM, Quittner AL, Rivellini G, Saunders CJ, Scheule RK, Sheard S, Simmonds NJ, Smith K, Smith SN, Soussi N, Soussi S, Spearing EJ, Stevenson BJ, Sumner-Jones SG, Turkkila M, Ureta RP, Waller MD, Wasowicz MY, Wilson JM, Wolstenholme-Hogg P; UK Cystic Fibrosis Gene Therapy Consortium.

Lancet Respir Med. 2015 Sep;3(9):684-691. doi: 10.1016/S2213-2600(15)00245-3. Epub 2015 Jul 3. Erratum in: Lancet Respir Med. 2015 Sep;3(9):e33.

26.

The Future of Next-Generation Sequencing in Neurology.

LePichon JB, Saunders CJ, Soden SE.

JAMA Neurol. 2015 Sep;72(9):971-2. doi: 10.1001/jamaneurol.2015.1076. No abstract available.

PMID:
26148113
27.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.

Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

28.

Extracellular matrix proteins interact with cell-signaling pathways in modifying risk of achilles tendinopathy.

Saunders CJ, van der Merwe L, Cook J, Handley CJ, Collins M, September AV.

J Orthop Res. 2015 Jun;33(6):898-903. doi: 10.1002/jor.22820. Epub 2015 Mar 8.

29.

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW.

Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Erratum in: Hum Mutat. 2015 Jun;36(6):656.

30.

A variant within the AQP1 3'-untranslated region is associated with running performance, but not weight changes, during an Ironman Triathlon.

Saunders CJ, Posthumus M, O'Connell K, September AV, Collins M.

J Sports Sci. 2015;33(13):1342-8. doi: 10.1080/02640414.2014.989535. Epub 2014 Dec 15.

PMID:
25495276
31.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

32.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

33.

Cholinergic neurotransmission links solitary chemosensory cells to nasal inflammation.

Saunders CJ, Christensen M, Finger TE, Tizzano M.

Proc Natl Acad Sci U S A. 2014 Apr 22;111(16):6075-80. doi: 10.1073/pnas.1402251111. Epub 2014 Apr 7.

34.

Dissecting the role of TRPV1 in detecting multiple trigeminal irritants in three behavioral assays for sensory irritation.

Saunders CJ, Li WY, Patel TD, Muday JA, Silver WL.

F1000Res. 2013 Mar 5;2:74. doi: 10.12688/f1000research.2-74.v1. eCollection 2013.

35.

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF.

BMC Med Genomics. 2013 Sep 17;6:32. doi: 10.1186/1755-8794-6-32.

36.

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Dinwiddie DL, Bracken JM, Bass JA, Christenson K, Soden SE, Saunders CJ, Miller NA, Singh V, Zwick DL, Roberts CC, Dalal J, Kingsmore SF.

Genomics. 2013 Nov-Dec;102(5-6):442-7. doi: 10.1016/j.ygeno.2013.08.008. Epub 2013 Aug 31.

37.

An integrated clinico-metabolomic model improves prediction of death in sepsis.

Langley RJ, Tsalik EL, van Velkinburgh JC, Glickman SW, Rice BJ, Wang C, Chen B, Carin L, Suarez A, Mohney RP, Freeman DH, Wang M, You J, Wulff J, Thompson JW, Moseley MA, Reisinger S, Edmonds BT, Grinnell B, Nelson DR, Dinwiddie DL, Miller NA, Saunders CJ, Soden SS, Rogers AJ, Gazourian L, Fredenburgh LE, Massaro AF, Baron RM, Choi AM, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF.

Sci Transl Med. 2013 Jul 24;5(195):195ra95. doi: 10.1126/scitranslmed.3005893.

38.

Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations.

Saunders CJ, Van Der Merwe L, Cook J, Handley CJ, Collins M, September AV.

J Sports Sci. 2014;32(1):92-100. doi: 10.1080/02640414.2013.807351. Epub 2013 Jul 23.

PMID:
23875975
39.

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF.

Genomics. 2013 Sep;102(3):148-56. doi: 10.1016/j.ygeno.2013.04.013. Epub 2013 Apr 28.

40.

Chemosensory brush cells of the trachea. A stable population in a dynamic epithelium.

Saunders CJ, Reynolds SD, Finger TE.

Am J Respir Cell Mol Biol. 2013 Aug;49(2):190-6. doi: 10.1165/rcmb.2012-0485OC.

41.

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.

Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, Sabelli C, Bacchetta R, Passerini L, Magri C, Bell CJ, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Barlati S, Badolato R.

J Allergy Clin Immunol. 2013 Feb;131(2):594-7.e1-3. doi: 10.1016/j.jaci.2012.10.062. No abstract available.

42.

Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations.

Saunders CJ, van der Merwe L, Posthumus M, Cook J, Handley CJ, Collins M, September AV.

J Orthop Res. 2013 Apr;31(4):632-7. doi: 10.1002/jor.22278. Epub 2012 Nov 28.

43.

Genomic medicine: evolving science, evolving ethics.

Soden SE, Farrow EG, Saunders CJ, Lantos JD.

Per Med. 2012;9(5):523-528.

44.

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF.

Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.

45.

Pediatric Crohn disease presenting as appendicitis: differentiating features from typical appendicitis.

Bass JA, Goldman J, Jackson MA, Gasior AC, Sharp SW, Drews AA, Saunders CJ, St Peter SD.

Eur J Pediatr Surg. 2012 Aug;22(4):274-8. doi: 10.1055/s-0032-1313348. Epub 2012 May 30.

PMID:
22648194
46.

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF.

Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. No abstract available.

47.

Next-generation community genetics for low- and middle-income countries.

Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ.

Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012.

48.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27.

PMID:
22213695
49.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ.

Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Review.

50.

Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation.

Guest EM, Neville KA, Hoyer JD, Safo MK, Garg U, Saunders CJ, Abdulmalik O, Zwick DL.

Hemoglobin. 2011;35(4):411-6. doi: 10.3109/03630269.2011.598986.

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