Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose...
Saved in:
Published in | Genetics in medicine Vol. 13; no. 11; pp. 921 - 932 |
---|---|
Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Nature Publishing Group US
01.11.2011
Elsevier Limited |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation.
Methods: Next generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software.
Results: The disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype.
Conclusions: We conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. |
---|---|
AbstractList | Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation. Methods: Next generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe registered software. Results: The disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype. Conclusions: We conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation.Methods: Next generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software.Results: The disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype.Conclusions: We conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation. Next generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software. The disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype. We conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation. Methods: Next generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software. Results: The disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype. Conclusions: We conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. PURPOSECongenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation. METHODSNext generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software. RESULTSThe disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype. CONCLUSIONSWe conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology. |
Author | Rhodenizer, Devin Tanner, Alice Bhide, Shruti Chin, Ephrem Ng, Bobby G Jones, Melanie A Freeze, Hudson H Zhang, Victor W Sun, Jessica J Hegde, Madhuri R |
Author_xml | – sequence: 1 givenname: Melanie A surname: Jones fullname: Jones, Melanie A organization: Department of Human Genetics, Emory University School of Medicine – sequence: 2 givenname: Shruti surname: Bhide fullname: Bhide, Shruti organization: Department of Human Genetics, Emory University School of Medicine – sequence: 3 givenname: Ephrem surname: Chin fullname: Chin, Ephrem organization: Department of Human Genetics, Emory University School of Medicine – sequence: 4 givenname: Bobby G surname: Ng fullname: Ng, Bobby G organization: Genetic Disease Program, Sanford-Burnham Medical Research Institute – sequence: 5 givenname: Devin surname: Rhodenizer fullname: Rhodenizer, Devin organization: Department of Human Genetics, Emory University School of Medicine – sequence: 6 givenname: Victor W surname: Zhang fullname: Zhang, Victor W organization: Department of Human Genetics, Emory University School of Medicine – sequence: 7 givenname: Jessica J surname: Sun fullname: Sun, Jessica J organization: Department of Human Genetics, Emory University School of Medicine – sequence: 8 givenname: Alice surname: Tanner fullname: Tanner, Alice organization: Department of Human Genetics, Emory University School of Medicine – sequence: 9 givenname: Hudson H surname: Freeze fullname: Freeze, Hudson H organization: Genetic Disease Program, Sanford-Burnham Medical Research Institute – sequence: 10 givenname: Madhuri R surname: Hegde fullname: Hegde, Madhuri R email: mhegde@emory.edu organization: Department of Human Genetics, Emory University School of Medicine |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/21811164$$D View this record in MEDLINE/PubMed |
BookMark | eNqFkU1vFSEUhompsR_6D4whceFqKt_DLE2jbZMaN3U9YeAwpZmBK3AT79_oL5bbWzXpQtkccnjeFzjvKTqKKQJCbyk5p2ToP15efz0nE6EcONWMKT959gKdUMlJR7hSR21PBt1xRcgxOi3lnhDac0ZeoWNGNaVUiRP0cGvyDBUc3qRlt0I2BbC9MyHiDMbWkGI3tZ7DEHOwdyvEik10OMLPimeITbGHcIEfW4g2xBn7lLELZo6p1GBxhVZaO3lsU2ySUM3SgJKyg1z2_XnZ2VR2y6PVa_TSm6XAm6d6hr5_-Xx7cdXdfLu8vvh001lJhtpJqRlQL4A4ISbtHJPSuYl45YWbDBNq6AfNwUttjHLKcmsUCNMr2aalOT9DHw6-m5za20sd11AsLIuJkLZlHKRQbdHh_yRhnBM5qEa-f0bep22O7Rsj07rvKdVCNEocKJtTKRn8uMlhNXk3UjLuwx1buOPzcJvs3ZP5dlrB_RH9TrMB8gCUdtQmnf_e_k_jXyhTt0I |
CitedBy_id | crossref_primary_10_1371_journal_pone_0103491 crossref_primary_10_1007_s10719_012_9445_7 crossref_primary_10_1016_j_ajhg_2011_12_024 crossref_primary_10_1111_jse_12173 crossref_primary_10_1038_s41598_021_86338_4 crossref_primary_10_3724_SP_J_1206_2012_00003 crossref_primary_10_1155_2013_134675 crossref_primary_10_5858_arpa_2016_0501_RA crossref_primary_10_1186_1755_8794_5_50 crossref_primary_10_1111_j_1365_294X_2012_05538_x crossref_primary_10_1016_j_arcped_2017_12_006 crossref_primary_10_1016_j_jmoldx_2013_03_005 crossref_primary_10_1111_1471_0528_17710 crossref_primary_10_1586_erm_12_10 crossref_primary_10_1097_MOO_0000000000000208 crossref_primary_10_3390_jpm12071111 crossref_primary_10_1038_jhg_2013_114 crossref_primary_10_1093_glycob_cwac003 crossref_primary_10_1186_1471_2164_15_184 crossref_primary_10_1016_j_mimet_2018_05_005 crossref_primary_10_3233_JND_160151 crossref_primary_10_1016_S1474_4422_12_70040_6 crossref_primary_10_5858_arpa_2012_0107_RA crossref_primary_10_1002_ajmg_a_37085 crossref_primary_10_3389_fneur_2020_559327 crossref_primary_10_1016_j_jmoldx_2019_01_004 crossref_primary_10_1016_j_humimm_2021_03_011 crossref_primary_10_1309_AJCPMWGWGO34EGOD crossref_primary_10_1016_j_canlet_2012_11_025 crossref_primary_10_1016_j_ymgme_2013_09_016 crossref_primary_10_1186_s13023_019_1291_2 crossref_primary_10_1002_ana_24303 crossref_primary_10_1177_0194599813482294 crossref_primary_10_1093_hmg_dds123 crossref_primary_10_1186_1471_2156_14_6 crossref_primary_10_1002_humu_22045 crossref_primary_10_1038_s41598_023_42178_y crossref_primary_10_1016_j_nmd_2013_01_007 crossref_primary_10_1111_jse_12599 crossref_primary_10_7554_eLife_05116 crossref_primary_10_17116_jnevro20151151145_52 crossref_primary_10_1016_j_gim_2022_09_017 crossref_primary_10_1177_2326409816685732 crossref_primary_10_1586_erm_12_3 crossref_primary_10_1371_journal_pone_0266889 crossref_primary_10_3892_mmr_2014_3135 crossref_primary_10_1111_j_1528_1167_2012_03516_x crossref_primary_10_1016_j_ejmg_2021_104283 crossref_primary_10_1111_aos_14095 crossref_primary_10_1586_erm_11_95 crossref_primary_10_1016_j_jmoldx_2012_09_003 crossref_primary_10_1016_j_jmoldx_2014_09_008 crossref_primary_10_1016_j_ymgme_2013_05_012 crossref_primary_10_1002_elps_201400148 crossref_primary_10_3788_CJL240447 |
Cites_doi | 10.1172/JCI200113419 10.1373/clinchem.2008.112789 10.1016/j.bbrc.2009.10.047 10.1146/annurev.genom.2.1.129 10.1172/JCI8691 10.1093/glycob/11.12.129R 10.1016/j.sbi.2005.08.010 10.1016/j.bbadis.2009.08.005 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y 10.1038/nbt1109-998 10.1172/JCI7302 10.1002/ajmg.a.31796 10.1016/j.ymgme.2004.09.014 10.1097/GIM.0b013e31816b5cae 10.1016/j.bbadis.2008.11.002 10.1136/adc.85.3.236 10.1101/gr.091942.109 10.1093/emboj/18.23.6816 10.1038/nrg2626 10.1038/nm1041 10.1038/nrg1894 10.1203/01.pdr.0000246802.57692.ea 10.1093/glycob/8.4.351 10.1038/nbt.1523 10.1093/glycob/3.2.97 10.1002/humu.21085 10.1007/s10545-008-0849-2 10.1073/pnas.95.22.13200 10.1111/j.1749-6632.2010.05840.x 10.1038/nbt.1583 10.1016/j.cca.2007.07.002 10.1007/s10545-008-0983-x 10.1016/j.ajhg.2010.08.004 10.1016/j.jpeds.2005.07.042 10.1097/GIM.0b013e318195e191 10.1023/A:1017249723165 10.1016/j.bbrc.2005.11.073 10.1002/humu.9195 10.1093/hmg/ddq352 10.1111/j.1530-0277.1986.tb05138.x 10.2353/jmoldx.2010.100043 10.1073/pnas.0910672106 10.1002/humu.21126 10.1038/ng.646 10.1038/ng.499 10.1002/ajmg.a.30831 10.1016/S0968-0004(00)01629-7 10.1146/annurev.genom.8.080706.092327 10.1136/adc.65.1.107 10.1006/mgme.2000.3066 10.1038/nature08250 10.1002/pmic.200600977 10.1016/S0304-4165(99)00165-8 10.1007/s10545-009-1262-1 |
ContentType | Journal Article |
Copyright | The American College of Medical Genetics 2011 The American College of Medical Genetics 2011. |
Copyright_xml | – notice: The American College of Medical Genetics 2011 – notice: The American College of Medical Genetics 2011. |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 3V. 7X7 7XB 88E 8FI 8FJ 8FK ABUWG AFKRA BENPR CCPQU FYUFA GHDGH K9. M0S M1P PQEST PQQKQ PQUKI 7X8 8FD FR3 P64 RC3 |
DOI | 10.1097/GIM.0b013e318226fbf2 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef ProQuest Central (Corporate) Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central AUTh Library subscriptions: ProQuest Central ProQuest One Community College Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Health & Medical Complete (Alumni) Health & Medical Collection (Alumni Edition) Medical Database ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition MEDLINE - Academic Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef ProQuest One Academic Eastern Edition ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Hospital Collection (Alumni) ProQuest Central ProQuest Health & Medical Complete Health Research Premium Collection ProQuest Medical Library ProQuest One Academic UKI Edition Health and Medicine Complete (Alumni Edition) ProQuest One Academic ProQuest Medical Library (Alumni) ProQuest Central (Alumni) MEDLINE - Academic Genetics Abstracts Engineering Research Database Technology Research Database Biotechnology and BioEngineering Abstracts |
DatabaseTitleList | Genetics Abstracts ProQuest One Academic Eastern Edition MEDLINE MEDLINE - Academic |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: 7X7 name: Health & Medical Collection url: https://search.proquest.com/healthcomplete sourceTypes: Aggregation Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine Biology |
EISSN | 1530-0366 |
EndPage | 932 |
ExternalDocumentID | 10_1097_GIM_0b013e318226fbf2 21811164 |
Genre | Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural |
GrantInformation_xml | – fundername: NINDS NIH HHS grantid: RC1NS069541-01 – fundername: NCRR NIH HHS grantid: KL2 RR025009 – fundername: NCATS NIH HHS grantid: UL1 TR000454 – fundername: NINDS NIH HHS grantid: RC1 NS069541 – fundername: NIDDK NIH HHS grantid: R01 DK055615 – fundername: NCATS NIH HHS grantid: KL2 TR000455 – fundername: NCATS NIH HHS grantid: TL1 TR000456 – fundername: NIMH NIH HHS grantid: T32 MH087977 – fundername: NCRR NIH HHS grantid: UL1 RR025008 – fundername: PHS HHS grantid: MDA G6396330 |
GroupedDBID | --- .-D ..I .GJ 08G 0SF 39C 3V. 4Q1 4Q2 4Q3 53G 5GY 5RE 5VS 70F 7X7 88E 8FI 8FJ AAKAS AALRI AAWBL AAXUO AAYEP AAZLF ABAWZ ABJNI ABLJU ABUWG ACGFO ACGFS ACKTT ACRQY ACZOJ ADBBV ADBIZ ADHDB ADVLN ADZCM AE3 AEJRE AENEX AEXYK AFETI AFJKZ AFKRA AFSHS AFTRI AGAYW AGEZK AHMBA AHSBF AHVBC AILAN AITUG AIZYK AJRNO AKRWK ALFFA ALIPV ALMA_UNASSIGNED_HOLDINGS AMRAJ AWKKM AXYYD BENPR BKKNO BPHCQ BS7 BVXVI CCPQU CS3 DNIVK DU5 EBS EE. EIOEI EJD EX3 F5P FDB FDQFY FERAY FIZPM FSGXE FYUFA H0~ JF9 JG8 JK3 JSO K-O KD2 M1P M41 N9A NAO NQJWS N~M OAG OAH ODA OK1 OLG OVD OWU OWV OWW OWX OWY OWZ P-K P2P PQQKQ PROAC PSQYO R58 RNT RNTTT ROL S4R SNX SNYQT SOHCF SOJ SRMVM SWTZT T8P TAOOD TBHMF TDRGL TEORI TSG VVN W3M WOQ WOW XXN XYM YFH ZFV CGR CUY CVF ECM EIF NPM AAYXX CITATION 7XB 8FK K9. PQEST PQUKI 7X8 8FD FR3 P64 RC3 |
ID | FETCH-LOGICAL-c509t-5582e1f4e0d44b8dd255ddb0f6f4dba24697983ef58aa6d6c3ca6e4a765226833 |
IEDL.DBID | BENPR |
ISSN | 1098-3600 |
IngestDate | Sat Oct 05 06:13:10 EDT 2024 Fri Aug 16 10:13:13 EDT 2024 Thu Oct 10 22:07:03 EDT 2024 Thu Sep 26 19:11:17 EDT 2024 Wed Oct 16 00:46:34 EDT 2024 Fri Oct 11 20:44:37 EDT 2024 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 11 |
Keywords | target enrichment next generation sequencing molecular diagnostic testing bioinformatics congenital disorders of glycosylation |
Language | English |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c509t-5582e1f4e0d44b8dd255ddb0f6f4dba24697983ef58aa6d6c3ca6e4a765226833 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 |
OpenAccessLink | https://europepmc.org/articles/pmc3398737?pdf=render |
PMID | 21811164 |
PQID | 2887711844 |
PQPubID | 2043492 |
PageCount | 12 |
ParticipantIDs | proquest_miscellaneous_954666619 proquest_miscellaneous_902330596 proquest_journals_2887711844 crossref_primary_10_1097_GIM_0b013e318226fbf2 pubmed_primary_21811164 springer_journals_10_1097_GIM_0b013e318226fbf2 |
PublicationCentury | 2000 |
PublicationDate | 2011-11-01 |
PublicationDateYYYYMMDD | 2011-11-01 |
PublicationDate_xml | – month: 11 year: 2011 text: 2011-11-01 day: 01 |
PublicationDecade | 2010 |
PublicationPlace | New York |
PublicationPlace_xml | – name: New York – name: United States – name: Bethesda |
PublicationSubtitle | Official journal of the American College of Medical Genetics and Genomics |
PublicationTitle | Genetics in medicine |
PublicationTitleAbbrev | Genet Med |
PublicationTitleAlternate | Genet Med |
PublicationYear | 2011 |
Publisher | Nature Publishing Group US Elsevier Limited |
Publisher_xml | – name: Nature Publishing Group US – name: Elsevier Limited |
References | Ng, Bigham, Buckingham (CR33) 2010; 42 Vodopiutz, Bodamer (CR18) 2008; 31 Vleugels, Haeuptle, Ng (CR31) 2009; 30 Leroy (CR44) 2006; 60 Voelkerding, Dames, Durtschi (CR41) 2009; 55 Eklund, Sun, Yang (CR28) 2006; 339 Aebi, Helenius, Schenk (CR14) 1999; 16 Adamowicz, Pronicka (CR10) 1996; 155 Gilissen, Arts, Hoischen (CR32) 2010; 87 Matthijs, Schollen, Bjursell (CR8) 2000; 16 Eklund, Newell, Sun (CR45) 2005; 84 Stibler, Jaeken (CR20) 1990; 65 Korner, Knauer, Stephani (CR26) 1999; 18 Jaeken, Hennet, Matthijs (CR17) 2009; 1792 Marklova, Albahri (CR12) 2007; 385 Vleugels, Schollen, Foulquier (CR22) 2009; 390 Kirkness (CR38) 2009; 27 Freeze, Aebi (CR9) 2005; 15 Freeze (CR3) 2006; 7 Jaeken, Matthijs (CR4) 2007; 8 CR5 Haeuptle, Hennet (CR43) 2009; 30 Choi, Scholl, Ji (CR50) 2009; 106 Varki (CR2) 1993; 3 Sun, Eklund, Van Hove (CR30) 2005; 137 Korner, Knauer, Holzbach (CR25) 1998; 95 Metzker (CR40) 2010; 11 Tayeh, Chin, Miller (CR55) 2009; 11 Kjaergaard, Schwartz, Skovby (CR7) 2001; 85 Ng, Buckingham, Lee (CR34) 2010; 42 Summerer, Wu, Haase (CR36) 2009; 19 Apweiler, Hermjakob, Sharon (CR1) 1999; 1473 Wu, Steet, Bohorov (CR49) 2004; 10 Gnirke, Melnikov, Maguire (CR35) 2009; 27 Freeze (CR21) 2001; 11 Imbach, Schenk, Schollen (CR23) 2000; 105 Jaeken, Matthijs (CR6) 2001; 2 Charlwood, Clayton, Keir (CR11) 1998; 8 Tewhey, Warner, Nakano (CR37) 2009; 27 Ng, Turner, Robertson (CR51) 2009; 461 Lacey, Bergen, Magera (CR19) 2001; 47 Kranz, Sun, Eklund (CR29) 2007; 143A Rios, Stein, Shendure (CR52) 2010; 19 Schenk, Imbach, Frank (CR47) 2001; 108 Stibler, Borg, Joustra (CR13) 1986; 10 Faid, Chirat, Seta (CR27) 2007; 7 Kim, Westphal, Srikrishna (CR24) 2000; 105 Voelkerding, Dames, Durtschi (CR39) 2010; 12 Richards, Bale, Bellissimo (CR42) 2008; 10 Eklund, Sun, Westphal (CR46) 2005; 147 Vockley, Rinaldo, Bennett (CR56) 2000; 71 Westphal, Xiao, Kwok (CR48) 2003; 22 Matthijs (CR15) 2000; 25 Schachter, Freeze (CR53) 2009; 1792 Jaeken, Hennet, Freeze (CR16) 2008; 31 Jaeken (CR54) 2010; 1214 Rios (10.1097/GIM.0b013e318226fbf2_bb0265) Matthijs (10.1097/GIM.0b013e318226fbf2_bb0045) Korner (10.1097/GIM.0b013e318226fbf2_bb0130) Jaeken (10.1097/GIM.0b013e318226fbf2_bb0085) Adamowicz (10.1097/GIM.0b013e318226fbf2_bb0055) Jaeken (10.1097/GIM.0b013e318226fbf2_bb0025) Jaeken (10.1097/GIM.0b013e318226fbf2_bb0275) Voelkerding (10.1097/GIM.0b013e318226fbf2_bb0200) Richards (10.1097/GIM.0b013e318226fbf2_bb0215) Lacey (10.1097/GIM.0b013e318226fbf2_bb0100) Stibler (10.1097/GIM.0b013e318226fbf2_bb0105) Faid (10.1097/GIM.0b013e318226fbf2_bb0140) Leroy (10.1097/GIM.0b013e318226fbf2_bb0225) Schachter (10.1097/GIM.0b013e318226fbf2_bb0270) Matthijs (10.1097/GIM.0b013e318226fbf2_bb0080) Freeze (10.1097/GIM.0b013e318226fbf2_bb0050) Apweiler (10.1097/GIM.0b013e318226fbf2_bb0010) Vleugels (10.1097/GIM.0b013e318226fbf2_bb0160) Tewhey (10.1097/GIM.0b013e318226fbf2_bb0190) Vockley (10.1097/GIM.0b013e318226fbf2_bb0285) Stibler (10.1097/GIM.0b013e318226fbf2_bb0070) Wu (10.1097/GIM.0b013e318226fbf2_bb0250) Schenk (10.1097/GIM.0b013e318226fbf2_bb0240) Freeze (10.1097/GIM.0b013e318226fbf2_bb0110) Kjaergaard (10.1097/GIM.0b013e318226fbf2_bb0040) Jaeken (10.1097/GIM.0b013e318226fbf2_bb0090) Korner (10.1097/GIM.0b013e318226fbf2_bb0135) Westphal (10.1097/GIM.0b013e318226fbf2_bb0245) Jaeken (10.1097/GIM.0b013e318226fbf2_bb0035) Ng (10.1097/GIM.0b013e318226fbf2_bb0260) Voelkerding (10.1097/GIM.0b013e318226fbf2_bb0210) Imbach (10.1097/GIM.0b013e318226fbf2_bb0120) Eklund (10.1097/GIM.0b013e318226fbf2_bb0145) Ng (10.1097/GIM.0b013e318226fbf2_bb0175) Gnirke (10.1097/GIM.0b013e318226fbf2_bb0180) Eklund (10.1097/GIM.0b013e318226fbf2_bb0230) 10.1097/GIM.0b013e318226fbf2_bb0030 Vleugels (10.1097/GIM.0b013e318226fbf2_bb0115) Ng (10.1097/GIM.0b013e318226fbf2_bb0170) Marklova (10.1097/GIM.0b013e318226fbf2_bb0065) Kim (10.1097/GIM.0b013e318226fbf2_bb0125) Varki (10.1097/GIM.0b013e318226fbf2_bb0015) Haeuptle (10.1097/GIM.0b013e318226fbf2_bb0220) Freeze (10.1097/GIM.0b013e318226fbf2_bb0020) Charlwood (10.1097/GIM.0b013e318226fbf2_bb0060) Gilissen (10.1097/GIM.0b013e318226fbf2_bb0165) Kirkness (10.1097/GIM.0b013e318226fbf2_bb0195) Eklund (10.1097/GIM.0b013e318226fbf2_bb0235) Summerer (10.1097/GIM.0b013e318226fbf2_bb0185) Metzker (10.1097/GIM.0b013e318226fbf2_bb0205) Sun (10.1097/GIM.0b013e318226fbf2_bb0155) Kranz (10.1097/GIM.0b013e318226fbf2_bb0150) Tayeh (10.1097/GIM.0b013e318226fbf2_bb0280) Choi (10.1097/GIM.0b013e318226fbf2_bb0255) Vodopiutz (10.1097/GIM.0b013e318226fbf2_bb0095) Aebi (10.1097/GIM.0b013e318226fbf2_bb0075) |
References_xml | – volume: 108 start-page: 1687 year: 2001 end-page: 1695 ident: CR47 article-title: MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If publication-title: J Clin Invest doi: 10.1172/JCI200113419 contributor: fullname: Frank – volume: 55 start-page: 641 year: 2009 end-page: 658 ident: CR41 article-title: Next-generation sequencing: from basic research to diagnostics publication-title: Clin Chem doi: 10.1373/clinchem.2008.112789 contributor: fullname: Durtschi – volume: 390 start-page: 769 year: 2009 end-page: 774 ident: CR22 article-title: Screening for OST deficiencies in unsolved CDG-I patients publication-title: Biochem Biophys Res Commun doi: 10.1016/j.bbrc.2009.10.047 contributor: fullname: Foulquier – volume: 2 start-page: 129 year: 2001 end-page: 151 ident: CR6 article-title: Congenital disorders of glycosylation publication-title: Annu Rev Genomics Hum Genet doi: 10.1146/annurev.genom.2.1.129 contributor: fullname: Matthijs – volume: 105 start-page: 233 year: 2000 end-page: 239 ident: CR23 article-title: Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie publication-title: J Clin Invest doi: 10.1172/JCI8691 contributor: fullname: Schollen – volume: 11 start-page: 129R year: 2001 end-page: 143R ident: CR21 article-title: Update and perspectives on congenital disorders of glycosylation publication-title: Glycobiology doi: 10.1093/glycob/11.12.129R contributor: fullname: Freeze – volume: 15 start-page: 490 year: 2005 end-page: 498 ident: CR9 article-title: Altered glycan structures: the molecular basis of congenital disorders of glycosylation publication-title: Curr Opin Struct Biol doi: 10.1016/j.sbi.2005.08.010 contributor: fullname: Aebi – volume: 1792 start-page: 825 year: 2009 end-page: 826 ident: CR17 article-title: CDG nomenclature: time for a change! publication-title: Biochim Biophys Acta doi: 10.1016/j.bbadis.2009.08.005 contributor: fullname: Matthijs – volume: 16 start-page: 386 year: 2000 end-page: 394 ident: CR8 article-title: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) publication-title: Hum Mutat doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y contributor: fullname: Bjursell – volume: 27 start-page: 998 year: 2009 end-page: 999 ident: CR38 article-title: Targeted sequencing with microfluidics publication-title: Nat Biotechnol doi: 10.1038/nbt1109-998 contributor: fullname: Kirkness – volume: 105 start-page: 191 year: 2000 end-page: 198 ident: CR24 article-title: Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) publication-title: J Clin Invest doi: 10.1172/JCI7302 contributor: fullname: Srikrishna – volume: 143A start-page: 1414 year: 2007 end-page: 1420 ident: CR29 article-title: CDG-Id in two siblings with partially different phenotypes publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.31796 contributor: fullname: Eklund – volume: 84 start-page: 25 year: 2005 end-page: 31 ident: CR45 article-title: Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2004.09.014 contributor: fullname: Sun – volume: 10 start-page: 294 year: 2008 end-page: 300 ident: CR42 article-title: ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 publication-title: Genet Med doi: 10.1097/GIM.0b013e31816b5cae contributor: fullname: Bellissimo – volume: 1792 start-page: 925 year: 2009 end-page: 930 ident: CR53 article-title: Glycosylation diseases: quo vadis? publication-title: Biochim Biophys Acta doi: 10.1016/j.bbadis.2008.11.002 contributor: fullname: Freeze – volume: 47 start-page: 513 year: 2001 end-page: 518 ident: CR19 article-title: Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry publication-title: Clin Chem contributor: fullname: Magera – volume: 85 start-page: 236 year: 2001 end-page: 239 ident: CR7 article-title: Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype publication-title: Arch Dis Child doi: 10.1136/adc.85.3.236 contributor: fullname: Skovby – volume: 19 start-page: 1616 year: 2009 end-page: 1621 ident: CR36 article-title: Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing publication-title: Genome Res doi: 10.1101/gr.091942.109 contributor: fullname: Haase – volume: 18 start-page: 6816 year: 1999 end-page: 6822 ident: CR26 article-title: Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase publication-title: EMBO J doi: 10.1093/emboj/18.23.6816 contributor: fullname: Stephani – volume: 11 start-page: 31 year: 2010 end-page: 46 ident: CR40 article-title: Sequencing technologies—the next generation publication-title: Nat Rev Genet doi: 10.1038/nrg2626 contributor: fullname: Metzker – volume: 10 start-page: 518 year: 2004 end-page: 523 ident: CR49 article-title: Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder publication-title: Nat Med doi: 10.1038/nm1041 contributor: fullname: Bohorov – volume: 7 start-page: 537 year: 2006 end-page: 551 ident: CR3 article-title: Genetic defects in the human glycome publication-title: Nat Rev Genet doi: 10.1038/nrg1894 contributor: fullname: Freeze – ident: CR5 – volume: 60 start-page: 643 year: 2006 end-page: 656 ident: CR44 article-title: Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects publication-title: Pediatr Res doi: 10.1203/01.pdr.0000246802.57692.ea contributor: fullname: Leroy – volume: 8 start-page: 351 year: 1998 end-page: 357 ident: CR11 article-title: Defective galactosylation of serum transferrin in galactosemia publication-title: Glycobiology doi: 10.1093/glycob/8.4.351 contributor: fullname: Keir – volume: 27 start-page: 182 year: 2009 end-page: 189 ident: CR35 article-title: Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing publication-title: Nat Biotechnol doi: 10.1038/nbt.1523 contributor: fullname: Maguire – volume: 3 start-page: 97 year: 1993 end-page: 130 ident: CR2 article-title: Biological roles of oligosaccharides: all of the theories are correct publication-title: Glycobiology doi: 10.1093/glycob/3.2.97 contributor: fullname: Varki – volume: 30 start-page: 1428 year: 2009 end-page: 1434 ident: CR31 article-title: RFT1 deficiency in three novel CDG patients publication-title: Hum Mutat doi: 10.1002/humu.21085 contributor: fullname: Ng – volume: 155 start-page: 347 year: 1996 end-page: 348 ident: CR10 article-title: Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia publication-title: Eur J Pediatr contributor: fullname: Pronicka – volume: 31 start-page: 267 year: 2008 end-page: 269 ident: CR18 article-title: Congenital disorders of glycosylation-a challenging group of IEMs publication-title: J Inherit Metab Dis doi: 10.1007/s10545-008-0849-2 contributor: fullname: Bodamer – volume: 95 start-page: 13200 year: 1998 end-page: 13205 ident: CR25 article-title: Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.95.22.13200 contributor: fullname: Holzbach – volume: 1214 start-page: 190 year: 2010 end-page: 198 ident: CR54 article-title: Congenital disorders of glycosylation publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2010.05840.x contributor: fullname: Jaeken – volume: 27 start-page: 1025 year: 2009 end-page: 1031 ident: CR37 article-title: Microdroplet-based PCR enrichment for large-scale targeted sequencing publication-title: Nat Biotechnol doi: 10.1038/nbt.1583 contributor: fullname: Nakano – volume: 385 start-page: 6 year: 2007 end-page: 20 ident: CR12 article-title: Screening and diagnosis of congenital disorders of glycosylation publication-title: Clin Chim Acta doi: 10.1016/j.cca.2007.07.002 contributor: fullname: Albahri – volume: 31 start-page: 669 year: 2008 end-page: 672 ident: CR16 article-title: On the nomenclature of congenital disorders of glycosylation (CDG) publication-title: J Inherit Metab Dis doi: 10.1007/s10545-008-0983-x contributor: fullname: Freeze – volume: 87 start-page: 418 year: 2010 end-page: 423 ident: CR32 article-title: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.08.004 contributor: fullname: Hoischen – volume: 147 start-page: 847 year: 2005 end-page: 850 ident: CR46 article-title: Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology publication-title: J Pediatr doi: 10.1016/j.jpeds.2005.07.042 contributor: fullname: Westphal – volume: 11 start-page: 232 year: 2009 end-page: 240 ident: CR55 article-title: Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications publication-title: Genet Med doi: 10.1097/GIM.0b013e318195e191 contributor: fullname: Miller – volume: 16 start-page: 669 year: 1999 end-page: 671 ident: CR14 article-title: Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS publication-title: Glycoconj J doi: 10.1023/A:1017249723165 contributor: fullname: Schenk – volume: 339 start-page: 755 year: 2006 end-page: 760 ident: CR28 article-title: Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation publication-title: Biochem Biophys Res Commun doi: 10.1016/j.bbrc.2005.11.073 contributor: fullname: Yang – volume: 22 start-page: 420 year: 2003 end-page: 421 ident: CR48 article-title: Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic publication-title: Hum Mutat doi: 10.1002/humu.9195 contributor: fullname: Kwok – volume: 19 start-page: 4313 year: 2010 end-page: 4318 ident: CR52 article-title: Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia publication-title: Hum Mol Genet doi: 10.1093/hmg/ddq352 contributor: fullname: Shendure – volume: 10 start-page: 535 year: 1986 end-page: 544 ident: CR13 article-title: Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5) publication-title: Alcohol Clin Exp Res doi: 10.1111/j.1530-0277.1986.tb05138.x contributor: fullname: Joustra – volume: 12 start-page: 539 year: 2010 end-page: 551 ident: CR39 article-title: Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology publication-title: J Mol Diagn doi: 10.2353/jmoldx.2010.100043 contributor: fullname: Durtschi – volume: 106 start-page: 19096 year: 2009 end-page: 19101 ident: CR50 article-title: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.0910672106 contributor: fullname: Ji – volume: 30 start-page: 1628 year: 2009 end-page: 1641 ident: CR43 article-title: Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides publication-title: Hum Mutat doi: 10.1002/humu.21126 contributor: fullname: Hennet – volume: 42 start-page: 790 year: 2010 end-page: 793 ident: CR33 article-title: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome publication-title: Nat Genet doi: 10.1038/ng.646 contributor: fullname: Buckingham – volume: 42 start-page: 30 year: 2010 end-page: 35 ident: CR34 article-title: Exome sequencing identifies the cause of a mendelian disorder publication-title: Nat Genet doi: 10.1038/ng.499 contributor: fullname: Lee – volume: 137 start-page: 22 year: 2005 end-page: 26 ident: CR30 article-title: Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.30831 contributor: fullname: Van Hove – volume: 25 start-page: 428 year: 2000 ident: CR15 article-title: Congenital disorders of glycosylation publication-title: Trends Biochem Sci doi: 10.1016/S0968-0004(00)01629-7 contributor: fullname: Matthijs – volume: 8 start-page: 261 year: 2007 end-page: 278 ident: CR4 article-title: Congenital disorders of glycosylation: a rapidly expanding disease family publication-title: Annu Rev Genomics Hum Genet doi: 10.1146/annurev.genom.8.080706.092327 contributor: fullname: Matthijs – volume: 65 start-page: 107 year: 1990 end-page: 111 ident: CR20 article-title: Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome publication-title: Arch Dis Child doi: 10.1136/adc.65.1.107 contributor: fullname: Jaeken – volume: 71 start-page: 10 year: 2000 end-page: 18 ident: CR56 article-title: Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways publication-title: Mol Genet Metab doi: 10.1006/mgme.2000.3066 contributor: fullname: Bennett – volume: 461 start-page: 272 year: 2009 end-page: 276 ident: CR51 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature doi: 10.1038/nature08250 contributor: fullname: Robertson – volume: 7 start-page: 1800 year: 2007 end-page: 1813 ident: CR27 article-title: A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis publication-title: Proteomics doi: 10.1002/pmic.200600977 contributor: fullname: Seta – volume: 1473 start-page: 4 year: 1999 end-page: 8 ident: CR1 article-title: On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database publication-title: Biochim Biophys Acta doi: 10.1016/S0304-4165(99)00165-8 contributor: fullname: Sharon – ident: 10.1097/GIM.0b013e318226fbf2_bb0180 contributor: fullname: Gnirke – ident: 10.1097/GIM.0b013e318226fbf2_bb0185 contributor: fullname: Summerer – ident: 10.1097/GIM.0b013e318226fbf2_bb0230 contributor: fullname: Eklund – ident: 10.1097/GIM.0b013e318226fbf2_bb0255 contributor: fullname: Choi – ident: 10.1097/GIM.0b013e318226fbf2_bb0020 contributor: fullname: Freeze – ident: 10.1097/GIM.0b013e318226fbf2_bb0040 contributor: fullname: Kjaergaard – ident: 10.1097/GIM.0b013e318226fbf2_bb0090 contributor: fullname: Jaeken – ident: 10.1097/GIM.0b013e318226fbf2_bb0225 contributor: fullname: Leroy – ident: 10.1097/GIM.0b013e318226fbf2_bb0080 contributor: fullname: Matthijs – ident: 10.1097/GIM.0b013e318226fbf2_bb0200 contributor: fullname: Voelkerding – ident: 10.1097/GIM.0b013e318226fbf2_bb0240 contributor: fullname: Schenk – ident: 10.1097/GIM.0b013e318226fbf2_bb0035 contributor: fullname: Jaeken – ident: 10.1097/GIM.0b013e318226fbf2_bb0070 contributor: fullname: Stibler – ident: 10.1097/GIM.0b013e318226fbf2_bb0285 contributor: fullname: Vockley – ident: 10.1097/GIM.0b013e318226fbf2_bb0170 contributor: fullname: Ng – ident: 10.1097/GIM.0b013e318226fbf2_bb0145 contributor: fullname: Eklund – ident: 10.1097/GIM.0b013e318226fbf2_bb0195 contributor: fullname: Kirkness – ident: 10.1097/GIM.0b013e318226fbf2_bb0075 contributor: fullname: Aebi – ident: 10.1097/GIM.0b013e318226fbf2_bb0140 contributor: fullname: Faid – ident: 10.1097/GIM.0b013e318226fbf2_bb0135 contributor: fullname: Korner – ident: 10.1097/GIM.0b013e318226fbf2_bb0160 contributor: fullname: Vleugels – ident: 10.1097/GIM.0b013e318226fbf2_bb0030 doi: 10.1007/s10545-009-1262-1 – ident: 10.1097/GIM.0b013e318226fbf2_bb0055 contributor: fullname: Adamowicz – ident: 10.1097/GIM.0b013e318226fbf2_bb0100 contributor: fullname: Lacey – ident: 10.1097/GIM.0b013e318226fbf2_bb0150 contributor: fullname: Kranz – ident: 10.1097/GIM.0b013e318226fbf2_bb0220 contributor: fullname: Haeuptle – ident: 10.1097/GIM.0b013e318226fbf2_bb0120 contributor: fullname: Imbach – ident: 10.1097/GIM.0b013e318226fbf2_bb0060 contributor: fullname: Charlwood – ident: 10.1097/GIM.0b013e318226fbf2_bb0275 contributor: fullname: Jaeken – ident: 10.1097/GIM.0b013e318226fbf2_bb0105 contributor: fullname: Stibler – ident: 10.1097/GIM.0b013e318226fbf2_bb0155 contributor: fullname: Sun – ident: 10.1097/GIM.0b013e318226fbf2_bb0210 contributor: fullname: Voelkerding – ident: 10.1097/GIM.0b013e318226fbf2_bb0065 contributor: fullname: Marklova – ident: 10.1097/GIM.0b013e318226fbf2_bb0125 contributor: fullname: Kim – ident: 10.1097/GIM.0b013e318226fbf2_bb0110 contributor: fullname: Freeze – ident: 10.1097/GIM.0b013e318226fbf2_bb0045 contributor: fullname: Matthijs – ident: 10.1097/GIM.0b013e318226fbf2_bb0280 contributor: fullname: Tayeh – ident: 10.1097/GIM.0b013e318226fbf2_bb0175 contributor: fullname: Ng – ident: 10.1097/GIM.0b013e318226fbf2_bb0265 contributor: fullname: Rios – ident: 10.1097/GIM.0b013e318226fbf2_bb0025 contributor: fullname: Jaeken – ident: 10.1097/GIM.0b013e318226fbf2_bb0250 contributor: fullname: Wu – ident: 10.1097/GIM.0b013e318226fbf2_bb0095 contributor: fullname: Vodopiutz – ident: 10.1097/GIM.0b013e318226fbf2_bb0190 contributor: fullname: Tewhey – ident: 10.1097/GIM.0b013e318226fbf2_bb0050 contributor: fullname: Freeze – ident: 10.1097/GIM.0b013e318226fbf2_bb0235 contributor: fullname: Eklund – ident: 10.1097/GIM.0b013e318226fbf2_bb0270 contributor: fullname: Schachter – ident: 10.1097/GIM.0b013e318226fbf2_bb0260 contributor: fullname: Ng – ident: 10.1097/GIM.0b013e318226fbf2_bb0130 contributor: fullname: Korner – ident: 10.1097/GIM.0b013e318226fbf2_bb0165 contributor: fullname: Gilissen – ident: 10.1097/GIM.0b013e318226fbf2_bb0015 contributor: fullname: Varki – ident: 10.1097/GIM.0b013e318226fbf2_bb0115 contributor: fullname: Vleugels – ident: 10.1097/GIM.0b013e318226fbf2_bb0205 contributor: fullname: Metzker – ident: 10.1097/GIM.0b013e318226fbf2_bb0085 contributor: fullname: Jaeken – ident: 10.1097/GIM.0b013e318226fbf2_bb0010 contributor: fullname: Apweiler – ident: 10.1097/GIM.0b013e318226fbf2_bb0245 contributor: fullname: Westphal – ident: 10.1097/GIM.0b013e318226fbf2_bb0215 contributor: fullname: Richards |
SSID | ssj0017320 |
Score | 2.3520467 |
Snippet | Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked... Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is... PURPOSECongenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked... |
SourceID | proquest crossref pubmed springer |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 921 |
SubjectTerms | 631/208/2489/144 631/208/514/2254 692/700/139/1512 Base Sequence Biomedical and Life Sciences Biomedicine Congenital diseases Congenital Disorders of Glycosylation - diagnosis Congenital Disorders of Glycosylation - genetics DNA Mutational Analysis - methods Genes Genetic Predisposition to Disease - genetics Human Genetics Humans Laboratory Medicine Mutation Polymerase Chain Reaction - methods Reproducibility of Results Sensitivity and Specificity Sequence Analysis, DNA - methods Time Factors |
Title | Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation |
URI | https://link.springer.com/article/10.1097/GIM.0b013e318226fbf2 https://www.ncbi.nlm.nih.gov/pubmed/21811164 https://www.proquest.com/docview/2887711844 https://search.proquest.com/docview/902330596 https://search.proquest.com/docview/954666619 |
Volume | 13 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Lb9QwEB7RViAuCMorUCofuJpu7ImdnBCgloLUCqFW2lvkV9pKVbKQ7WH_Br-YceLsCirt1XHiUWbs-ebhGYD3whbCNNLzXInAscott6QXeEBjjVNGoR0SZM_V6SV-nxfz5HDrU1rldCYOB7XvXPSRHwnaDZrQMOLHxS8eu0bF6GpqobEDeyLHGKbd-3x8_uPnOo6gpRjrEVQll6Tbp8tzlT76-u1s4wUkENLYRvyrnO4hznvR0kEJnTyFJwk9sk8ju5_Bg9Duw8Oxn-RqHx6dpUj5c_hzMaR4B88W3e0qep76wNy1uWkZwcThMgOPGswzEqAbdx2dhMy0nrV0WrOroRh1nMRSrjWRwwjfMj-m5tH6bBkLdNBw1zAyqumV2H-E-VTOs4_jV7cr1_WrMd_uBVyeHF98OeWp_wJ3BCOWvChKEfIGw8wj2tJ7Mj-8t7NGNeitEWRZ66qUoSlKY5RXTjqjiMlaRVBXSvkSdtuuDa-BiRkGo71F1AYDVvQxdFI7420ZcqUz4NOPrxdjmY16Co8To-r_GZXBwcSdOm26vt6ISAZs_Zi2S4yBmDZ0d31dEUaRseXQlikFkk1HhmUGr0a-r0mKeCgnAzODD5MgbJbfRu-b7fS-hceDr3q443gAu8vfd-EdgZ2lPYQdPdeHSa7_ArCcAQc |
link.rule.ids | 315,786,790,12083,21416,27955,27956,31752,31753,33777,33778,43343,43838,74100,74657 |
linkProvider | ProQuest |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Lb9QwEB5BEZQLgkIhUMAHrqYbe2InJ4QQZQvdnrbS3iK_0laqkqXZHvZv8IsZ57ErqLRXx4lHmbHnm4dnAD4JmwlTSc9TJQLHIrXckl7gAY01ThmFtkuQPVfTC_y5yBaDw60d0irHM7E7qH3joo_8WNBu0ISGEb8sf_PYNSpGV4cWGg_hEUqJUc71YmNwpVqKvhpBkXNJmn28Olfo4x-ns60PkCBIZSvxr2q6hzfvxUo7FXTyHJ4N2JF97Zn9Ah6E-gAe990k1wfwZDbEyV_Cn3mX4B08WzY36-h3agNzV-a6ZgQSu6sMPOovz0h8rt1VdBEyU3tW01nNLrtS1HESGzKtiRxG6Jb5PjGP1merWJ6DhpuKkUlNr8TuI8wPxTzbOH55s3ZNu-6z7V7Bxcn3-bcpH7ovcEcgYsWzLBchrTBMPKLNvSfjw3s7qVSF3hpBdrUuchmqLDdGeeWkM4pYrFWEdLmUh7BXN3V4A0xMMBjtLaI2GLCgj6GT2hlv85AqnQAff3y57ItslGNwnBhV_s-oBI5G7pTDlmvLrYAkwDaPabPECIipQ3PXlgUhFBkbDu2YkiFZdGRWJvC65_uGpIiGUjIvE_g8CsJ2-V30vt1N70fYn85nZ-XZ6fmvd_C081p3tx2PYG91exfeE-xZ2Q-dbP8FiK4Bpw |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Lb9QwEB5BERUXBOWVtoAPXM1ubMdOTqgClhZoxaGV9hb52VaqkoVsD_s3-MUdJ86uoNJenYcnmbHnm4dnAD4wUzAduKO5ZJ6KKjfUoF6gXmijrdRSmD5B9kweX4jv82Ke8p-6lFY57on9Ru1aG33kE4arQSEaFmISUlrEry-zT4vfNHaQipHW1E7jITxCLTmNbRzUfG185YqzoTJBVVKOWn48RlepybeT040_EOFIMIH9q6buYc97cdNeHc2ewdOEI8nRwPjn8MA3e_B46Cy52oPd0xQzfwF_z_tkb-_Ior1ZRR9U54m90tcNQcDYH2ugUZc5gqJ0ba-iu5DoxpEGP55c9mWp400kZV0jOQSRLnFDkh7OT5axVAcOt4GgeY2PxE4kxKXCnl0cv7xZ2bZbDZl3L-Fi9vX88zFNnRioRUCxpEVRMp8H4adOCFM6h4aIc2YaZBDOaIY2tqpK7kNRai2dtNxqiexWMsK7kvNXsNO0jX8DhE2F18oZIZQWXlT4MmG5stqZ0udSZUDHH18vhoIb9RgoR0bV_zMqg8ORO3Vafl29EZYMyPoyLpwYDdGNb2-7ukK0wmPzoS23FAKtOzQxM3g98H1NUkRGOZqaGXwcBWEz_TZ697fT-x52UazrnydnPw7gSe_A7g8-HsLO8s-tf4sIaGne9aJ9B3XTBdM |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Targeted+polymerase+chain+reaction-based+enrichment+and+next+generation+sequencing+for+diagnostic+testing+of+congenital+disorders+of+glycosylation&rft.jtitle=Genetics+in+medicine&rft.au=Jones%2C+Melanie+A.&rft.au=Bhide%2C+Shruti&rft.au=Chin%2C+Ephrem&rft.au=Ng%2C+Bobby+G.&rft.date=2011-11-01&rft.issn=1098-3600&rft.volume=13&rft.issue=11&rft.spage=921&rft.epage=932&rft_id=info:doi/10.1097%2FGIM.0b013e318226fbf2&rft.externalDBID=n%2Fa&rft.externalDocID=10_1097_GIM_0b013e318226fbf2 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1098-3600&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1098-3600&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1098-3600&client=summon |