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Items: 36

1.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9.

2.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

3.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
4.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA.

Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24.

PMID:
30679813
5.

Incidental Pulmonary Nodules Detected on CT Images.

Anderson IJ, Davis AM.

JAMA. 2018 Dec 4;320(21):2260-2261. doi: 10.1001/jama.2018.16336. No abstract available.

PMID:
30419095
6.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

7.

Thymic teratoma presenting as non-immune hydrops fetalis.

Hamza A, Vouyoukas E, Anderson IJ, Higgins MJ.

Autops Case Rep. 2018 Feb 27;8(1):e2018004. doi: 10.4322/acr.2018.004. eCollection 2018 Jan-Mar.

8.

Respiratory distress of unknown etiology in a transplant recipient: think toxoplasmosis!

Hamza A, Anderson IJ, Al-Khafaji B.

Autops Case Rep. 2017 Dec 8;7(4):37-41. doi: 10.4322/acr.2017.038. eCollection 2017 Oct-Dec.

9.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002097. doi: 10.1101/mcs.a002097. Print 2017 Nov.

10.

Complete genome sequence of the Antarctic Halorubrum lacusprofundi type strain ACAM 34.

Anderson IJ, DasSarma P, Lucas S, Copeland A, Lapidus A, Del Rio TG, Tice H, Dalin E, Bruce DC, Goodwin L, Pitluck S, Sims D, Brettin TS, Detter JC, Han CS, Larimer F, Hauser L, Land M, Ivanova N, Richardson P, Cavicchioli R, DasSarma S, Woese CR, Kyrpides NC.

Stand Genomic Sci. 2016 Sep 10;11(1):70. doi: 10.1186/s40793-016-0194-2. eCollection 2016.

11.

Insights into the phylogeny and coding potential of microbial dark matter.

Rinke C, Schwientek P, Sczyrba A, Ivanova NN, Anderson IJ, Cheng JF, Darling A, Malfatti S, Swan BK, Gies EA, Dodsworth JA, Hedlund BP, Tsiamis G, Sievert SM, Liu WT, Eisen JA, Hallam SJ, Kyrpides NC, Stepanauskas R, Rubin EM, Hugenholtz P, Woyke T.

Nature. 2013 Jul 25;499(7459):431-7. doi: 10.1038/nature12352. Epub 2013 Jul 14.

PMID:
23851394
12.

The complete multipartite genome sequence of Cupriavidus necator JMP134, a versatile pollutant degrader.

Lykidis A, Pérez-Pantoja D, Ledger T, Mavromatis K, Anderson IJ, Ivanova NN, Hooper SD, Lapidus A, Lucas S, González B, Kyrpides NC.

PLoS One. 2010 Mar 22;5(3):e9729. doi: 10.1371/journal.pone.0009729.

13.

A phylogeny-driven genomic encyclopaedia of Bacteria and Archaea.

Wu D, Hugenholtz P, Mavromatis K, Pukall R, Dalin E, Ivanova NN, Kunin V, Goodwin L, Wu M, Tindall BJ, Hooper SD, Pati A, Lykidis A, Spring S, Anderson IJ, D'haeseleer P, Zemla A, Singer M, Lapidus A, Nolan M, Copeland A, Han C, Chen F, Cheng JF, Lucas S, Kerfeld C, Lang E, Gronow S, Chain P, Bruce D, Rubin EM, Kyrpides NC, Klenk HP, Eisen JA.

Nature. 2009 Dec 24;462(7276):1056-60. doi: 10.1038/nature08656.

14.

The genome sequence of the psychrophilic archaeon, Methanococcoides burtonii: the role of genome evolution in cold adaptation.

Allen MA, Lauro FM, Williams TJ, Burg D, Siddiqui KS, De Francisci D, Chong KW, Pilak O, Chew HH, De Maere MZ, Ting L, Katrib M, Ng C, Sowers KR, Galperin MY, Anderson IJ, Ivanova N, Dalin E, Martinez M, Lapidus A, Hauser L, Land M, Thomas T, Cavicchioli R.

ISME J. 2009 Sep;3(9):1012-35. doi: 10.1038/ismej.2009.45. Epub 2009 Apr 30.

PMID:
19404327
15.

The complete genome sequence of Staphylothermus marinus reveals differences in sulfur metabolism among heterotrophic Crenarchaeota.

Anderson IJ, Dharmarajan L, Rodriguez J, Hooper S, Porat I, Ulrich LE, Elkins JG, Mavromatis K, Sun H, Land M, Lapidus A, Lucas S, Barry K, Huber H, Zhulin IB, Whitman WB, Mukhopadhyay B, Woese C, Bristow J, Kyrpides N.

BMC Genomics. 2009 Apr 2;10:145. doi: 10.1186/1471-2164-10-145.

16.

Integration of phenotypic metadata and protein similarity in Archaea using a spectral bipartitioning approach.

Hooper SD, Anderson IJ, Pati A, Dalevi D, Mavromatis K, Kyrpides NC.

Nucleic Acids Res. 2009 Apr;37(7):2096-104. doi: 10.1093/nar/gkp075. Epub 2009 Feb 17.

17.

Complete genome sequence of Methanocorpusculum labreanum type strain Z.

Anderson IJ, Sieprawska-Lupa M, Goltsman E, Lapidus A, Copeland A, Glavina Del Rio T, Tice H, Dalin E, Barry K, Pitluck S, Hauser L, Land M, Lucas S, Richardson P, Whitman WB, Kyrpides NC.

Stand Genomic Sci. 2009 Sep 24;1(2):197-203. doi: 10.4056/sigs.35575.

18.

Complete genome sequence of Methanoculleus marisnigri Romesser et al. 1981 type strain JR1.

Anderson IJ, Sieprawska-Lupa M, Lapidus A, Nolan M, Copeland A, Glavina Del Rio T, Tice H, Dalin E, Barry K, Saunders E, Han C, Brettin T, Detter JC, Bruce D, Mikhailova N, Pitluck S, Hauser L, Land M, Lucas S, Richardson P, Whitman WB, Kyrpides NC.

Stand Genomic Sci. 2009 Sep 25;1(2):189-96. doi: 10.4056/sigs.32535.

19.

Complete genome sequence of Staphylothermus marinus Stetter and Fiala 1986 type strain F1.

Anderson IJ, Sun H, Lapidus A, Copeland A, Glavina Del Rio T, Tice H, Dalin E, Lucas S, Barry K, Land M, Richardson P, Huber H, Kyrpides NC.

Stand Genomic Sci. 2009 Sep 25;1(2):183-8. doi: 10.4056/sigs.30527.

20.

Symbiosis insights through metagenomic analysis of a microbial consortium.

Woyke T, Teeling H, Ivanova NN, Huntemann M, Richter M, Gloeckner FO, Boffelli D, Anderson IJ, Barry KW, Shapiro HJ, Szeto E, Kyrpides NC, Mussmann M, Amann R, Bergin C, Ruehland C, Rubin EM, Dubilier N.

Nature. 2006 Oct 26;443(7114):950-5. Epub 2006 Sep 17.

PMID:
16980956
21.

Disruption of the operon encoding Ehb hydrogenase limits anabolic CO2 assimilation in the archaeon Methanococcus maripaludis.

Porat I, Kim W, Hendrickson EL, Xia Q, Zhang Y, Wang T, Taub F, Moore BC, Anderson IJ, Hackett M, Leigh JA, Whitman WB.

J Bacteriol. 2006 Feb;188(4):1373-80.

22.

The use of diagnostic imaging in sports medicine.

Orchard JW, Read JW, Anderson IJ.

Med J Aust. 2005 Nov 7;183(9):482-6. Review.

PMID:
16274353
23.

Gene discovery in the Acanthamoeba castellanii genome.

Anderson IJ, Watkins RF, Samuelson J, Spencer DF, Majoros WH, Gray MW, Loftus BJ.

Protist. 2005 Aug;156(2):203-14.

PMID:
16171187
24.

New directions in cytogenetic and molecular testing of the neonate.

Anderson IJ, Matteson KJ.

Semin Perinatol. 2005 Jun;29(3):144-9. Review.

PMID:
16114577
25.

Entamoeba histolytica: observations on metabolism based on the genome sequence.

Anderson IJ, Loftus BJ.

Exp Parasitol. 2005 Jul;110(3):173-7. Epub 2005 Apr 14.

PMID:
15955308
26.

The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans.

Loftus BJ, Fung E, Roncaglia P, Rowley D, Amedeo P, Bruno D, Vamathevan J, Miranda M, Anderson IJ, Fraser JA, Allen JE, Bosdet IE, Brent MR, Chiu R, Doering TL, Donlin MJ, D'Souza CA, Fox DS, Grinberg V, Fu J, Fukushima M, Haas BJ, Huang JC, Janbon G, Jones SJ, Koo HL, Krzywinski MI, Kwon-Chung JK, Lengeler KB, Maiti R, Marra MA, Marra RE, Mathewson CA, Mitchell TG, Pertea M, Riggs FR, Salzberg SL, Schein JE, Shvartsbeyn A, Shin H, Shumway M, Specht CA, Suh BB, Tenney A, Utterback TR, Wickes BL, Wortman JR, Wye NH, Kronstad JW, Lodge JK, Heitman J, Davis RW, Fraser CM, Hyman RW.

Science. 2005 Feb 25;307(5713):1321-4. Epub 2005 Jan 13.

27.

A transporter of Escherichia coli specific for L- and D-methionine is the prototype for a new family within the ABC superfamily.

Zhang Z, Feige JN, Chang AB, Anderson IJ, Brodianski VM, Vitreschak AG, Gelfand MS, Saier MH Jr.

Arch Microbiol. 2003 Aug;180(2):88-100. Epub 2003 Jun 19.

PMID:
12819857
28.

Genome of Methanocaldococcus (Methanococcus) jannaschii.

Graham DE, Kyrpides N, Anderson IJ, Overbeek R, Whitman WB.

Methods Enzymol. 2001;330:40-123. Review. No abstract available.

PMID:
11210518
29.

Mutation detection in an equivocal case of Friedreich's ataxia.

Potter NT, Miller CA, Anderson IJ.

Pediatr Neurol. 2000 May;22(5):413-5.

PMID:
10913738
30.

Trace metals in oysters and sediments of Botany Bay, Sydney.

Hayes WJ, Anderson IJ, Gaffoor MZ, Hurtado J.

Sci Total Environ. 1998 Mar 5;212(1):39-47.

PMID:
9525046
31.

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ.

Ann Neurol. 1995 Feb;37(2):273-7.

PMID:
7847869
32.

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al.

Hum Mol Genet. 1993 May;2(5):549-56.

PMID:
8518793
33.

Use of a molecular genetic approach to diagnosing the fragile X genotype.

Potter NT, Lozzio CB, Anderson IJ, Bowlin ES, Matteson KJ.

J Pediatr. 1992 Sep;121(3):385-90.

PMID:
1517912
34.

Mucolipidosis type IV: clinical manifestations and natural history.

Chitayat D, Meunier CM, Hodgkinson KA, Silver K, Flanders M, Anderson IJ, Little JM, Whiteman DA, Carpenter S.

Am J Med Genet. 1991 Dec 1;41(3):313-8.

PMID:
1789285
35.

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P.

Am J Med Genet. 1990 Oct;37(2):272-6.

PMID:
1978986
36.

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P.

Am J Hum Genet. 1990 May;46(5):896-901.

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