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Items: 41

1.

Using dried blood spots for variant analysis for patients with haemophilia.

Amos LE, Yoo B, Miller N, Farrow EG, Walter A, Gibson M, Durham S, Herd S, Soden S, Carpenter SL.

Haemophilia. 2019 Jul 30. doi: 10.1111/hae.13824. [Epub ahead of print] No abstract available.

PMID:
31361374
2.

Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Sep 13;14(9):e1007673. doi: 10.1371/journal.pgen.1007673. eCollection 2018 Sep.

3.

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Jul 12;14(7):e1007394. doi: 10.1371/journal.pgen.1007394. eCollection 2018 Jul. Erratum in: PLoS Genet. 2018 Sep 13;14(9):e1007673.

4.

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
5.

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
6.

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.

7.

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2017 Jan 11;2:16039. doi: 10.1038/npjgenmed.2016.39. eCollection 2017.

8.

Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow.

Clinkenbeard EL, Hanudel MR, Stayrook KR, Appaiah HN, Farrow EG, Cass TA, Summers LJ, Ip CS, Hum JM, Thomas JC, Ivan M, Richine BM, Chan RJ, Clemens TL, Schipani E, Sabbagh Y, Xu L, Srour EF, Alvarez MB, Kacena MA, Salusky IB, Ganz T, Nemeth E, White KE.

Haematologica. 2017 Nov;102(11):e427-e430. doi: 10.3324/haematol.2017.167882. Epub 2017 Aug 17. No abstract available.

9.

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Giddens MM, Wong JC, Schroeder JP, Farrow EG, Smith BM, Owino S, Soden SE, Meyer RC, Saunders C, LePichon JB, Weinshenker D, Escayg A, Hall RA.

Neurobiol Dis. 2017 Oct;106:181-190. doi: 10.1016/j.nbd.2017.07.006. Epub 2017 Jul 6.

10.

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

Rengasamy Venugopalan S, Farrow EG, Lypka M.

Orthod Craniofac Res. 2017 Jun;20 Suppl 1:50-56. doi: 10.1111/ocr.12150.

PMID:
28643921
11.

In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.

Gaedigk A, Twist GP, Farrow EG, Lowry JA, Soden SE, Miller NA.

Pharmacogenomics. 2017 Apr;18(5):427-431. doi: 10.2217/pgs-2016-0192. Epub 2017 Mar 14.

12.

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.

13.

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.

14.

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016. Erratum in: NPJ Genom Med. 2017 Jan 11;2:16039.

15.

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
16.

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.

17.

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.

18.

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.

19.

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.

20.

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK.

Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.

21.

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.

22.

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.

23.

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.

24.

Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice.

Clinkenbeard EL, Farrow EG, Summers LJ, Cass TA, Roberts JL, Bayt CA, Lahm T, Albrecht M, Allen MR, Peacock M, White KE.

J Bone Miner Res. 2014 Feb;29(2):361-9. doi: 10.1002/jbmr.2049.

25.

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.

26.

Circulating αKlotho influences phosphate handling by controlling FGF23 production.

Smith RC, O'Bryan LM, Farrow EG, Summers LJ, Clinkenbeard EL, Roberts JL, Cass TA, Saha J, Broderick C, Ma YL, Zeng QQ, Kharitonenkov A, Wilson JM, Guo Q, Sun H, Allen MR, Burr DB, Breyer MD, White KE.

J Clin Invest. 2012 Dec;122(12):4710-5. doi: 10.1172/JCI64986. Epub 2012 Nov 26.

27.

Genomic medicine: evolving science, evolving ethics.

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

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

28.

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.

29.

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.

30.

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG, Imel EA, White KE.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020. Review.

31.

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, Robling AG, Stayrook KR, Jideonwo V, Magers MJ, Garringer HJ, Vidal R, Chan RJ, Goodwin CB, Hui SL, Peacock M, White KE.

Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1146-55. doi: 10.1073/pnas.1110905108. Epub 2011 Oct 17.

32.

Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation.

Farrow EG, Summers LJ, Schiavi SC, McCormick JA, Ellison DH, White KE.

J Endocrinol. 2010 Oct;207(1):67-75. doi: 10.1677/JOE-10-0181. Epub 2010 Jul 30.

33.

Tumor-induced osteomalacia.

Farrow EG, White KE.

Expert Rev Endocrinol Metab. 2009 Sep 1;4(5):435-442.

34.

Recent advances in renal phosphate handling.

Farrow EG, White KE.

Nat Rev Nephrol. 2010 Apr;6(4):207-17. doi: 10.1038/nrneph.2010.17. Epub 2010 Feb 23. Review.

35.

Initial FGF23-mediated signaling occurs in the distal convoluted tubule.

Farrow EG, Davis SI, Summers LJ, White KE.

J Am Soc Nephrol. 2009 May;20(5):955-60. doi: 10.1681/ASN.2008070783. Epub 2009 Apr 8.

36.

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.

Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, Stamp TC, Baker LR, Bonewald LF, White KE.

Bone. 2009 Feb;44(2):287-94. doi: 10.1016/j.bone.2008.10.040. Epub 2008 Oct 25.

37.

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.

Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT.

Osteoporos Int. 2009 Jul;20(7):1273-8. doi: 10.1007/s00198-008-0775-z. Epub 2008 Nov 4.

38.

Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.

Brown WW, Jüppner H, Langman CB, Price H, Farrow EG, White KE, McCormick KL.

J Clin Endocrinol Metab. 2009 Jan;94(1):17-20. doi: 10.1210/jc.2008-0220. Epub 2008 Oct 14.

39.

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.

Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE.

Am J Physiol Endocrinol Metab. 2008 Oct;295(4):E929-37. doi: 10.1152/ajpendo.90456.2008. Epub 2008 Aug 5.

40.

The role of DMP1 in autosomal recessive hypophosphatemic rickets.

Farrow EG, Davis SI, Ward LM, White KE.

J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):310-2. No abstract available.

41.

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE.

Am J Med Genet A. 2006 Mar 1;140(5):537-9. No abstract available.

PMID:
16470795

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