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References (78)
-
Ozanna Burnicka-Turek, Jeffrey Steimle, Wenhui Huang, Lindsay Felker, A. Kamp, Junghun Kweon, Michael Peterson, R. Reeves, C. Maslen, P. Gruber, X. Yang, J. Shendure, I. Moskowitz (2016)
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Human molecular genetics, 25 14
-
Ernst Schaefer, Julia Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, Jürgen Braun, C. Redin, C. Mathis, Jean Muller, C. Schmidt-Mutter, Elisabeth Flori, V. Marion, C. Stoetzel, Hélène Dollfus (2014)
Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutationsClinical Genetics, 85
-
C. Julier, M. Nicolino (2010)
Wolcott-Rallison syndromeOrphanet Journal of Rare Diseases, 5
-
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm (2015)
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenetics in medicine : official journal of the American College of Medical Genetics, 17
-
(2016)
Cilia gene mutations -
A. Slavotinek, L. Biesecker (2000)
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.American journal of medical genetics, 95 3
-
(2015)
Targetedmulti - gene panel testing for the diagnosis of Bardet Biedl syndrome : Identification of nine novel mutations across BBS 1 , BBS 2 , BBS 4 , BBS 7 , BBS 9 , BBS 10 genes -
M. Digilio, F. Pugnaloni, A. Luca, G. Calcagni, A. Baban, M. Dentici, P. Versacci, B. Dallapiccola, M. Tartaglia, B. Marino (2019)
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehogClinical Genetics, 95
-
(2015)
SIFTmissense predictions for genomes.Nature Protocols, 11, https: //doi.org/10.1038/nprot.2015.123 -
(2016)
A novelH 395 Rmuta - tion in MKKS / BBS 6 causes retinitis pigmentosa and polydactyly without other findings of Bardet - Biedl orMcKusick - Kaufman syndrome -
C. Deffert, F. Niel, F. Mochel, Catherine Barrey, C. Romana, E. Souied, C. Stoetzel, M. Goossens, H. Dollfus, A. Verloes, E. Girodon, M. Gerard-Blanluet (2007)
Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome familyAmerican Journal of Medical Genetics Part A, 143A
-
Y. Bee, Mayank Chawla, Yi Zhao (2015)
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl SyndromeBioMed Research International, 2015
-
V. Marion, F. Stutzmann, M. Gérard, C. Melo, E. Schaefer, A. Claussmann, Sophie Hellé, V. Delague, E. Souied, Catherine Barrey, A. Verloes, C. Stoetzel, H. Dollfus (2012)
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactylyJournal of Medical Genetics, 49
-
(2003)
Human Gene Mutation Database (HGMD R -
(2021)
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey -
G. Esposito, F. Testa, M. Zacchia, A. Crispo, V. Iorio, G. Capolongo, L. Rinaldi, Marcella D'antonio, Tiziana Fioretti, P. Iadicicco, S. Rossi, A. Franzè, E. Marciano, G. Capasso, F. Simonelli, F. Salvatore (2017)
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variantsBMC Medical Genetics, 18
-
E. Forsythe, P. Beales (2012)
Bardet–Biedl syndromeEuropean Journal of Human Genetics, 21
-
T. Barrett (2007)
Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?Pediatric Diabetes, 8
-
T. Shen, Jianmei Gao, T. Shou, Li Li, Jin-ping Zhang, Qian Zhao, Xinmin Yan (2019)
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl SyndromeJournal of the Chinese Medical Association, 82
-
J. Hulleman, A. Nguyen, V. Ramprasad, S. Murugan, Ravi Gupta, A. Mahindrakar, Ravi Angara, C. Sankurathri, V. Mootha (2016)
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromeMolecular Vision, 22
-
Selwyn Taylor, R. Feldt (1977)
ATRIOVENTRICULAR CANAL DEFECTThe Ulster Medical Journal, 46
-
I. Adzhubei, D. Jordan, S. Sunyaev (2013)
Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2Current Protocols in Human Genetics, 76
-
(2019)
Next generation sequencing identifies five novel mutations in lebanese patients with Bardet – Biedl andUsher syndromes -
P. Beales, N. Katsanis, R. Lewis, S. Ansley, N. Elçioğlu, J. Raza, M. Woods, J. Green, P. Parfrey, W. Davidson, J. Lupski (2001)
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.American journal of human genetics, 68 3
-
(2015)
A global reference -
T. Budd, R. Lipton, R. DeMillo, F. Sayward (2019)
Mutation analysisJournal of Medical Genetics, 35
-
E. Schaefer, Clarisse Delvallée, L. Mary, C. Stoetzel, Véronique Geoffroy, C. Marks-Delesalle, M. Holder‐Espinasse, J. Ghoumid, H. Dollfus, J. Muller (2019)
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl SyndromeFrontiers in Genetics, 10
-
(2015)
Whole exome sequencing identifies a novel and a recurrent mutation in BBS 2 gene in a family with Bardet - Biedl syndrome -
S. Riazuddin, M. Hussain, A. Razzaq, Z. Iqbal, M. Shahzad, D. Polla, Y. Song, E. Beusekom, A. Khan, L. Tomas-Roca, M. Rashid, M. Zahoor, W. Wissink-Lindhout, M. Basra, M. Ansar, Z. Agha, K. Heeswijk, F. Rasheed, M. Vorst, J. Veltman, C. Gilissen, J. Akram, T. Kleefstra, M. Assir, D. Grozeva, K. Carss, F. Raymond, T. O’Connor, S. Riazuddin, S. Khan, Z. Ahmed, A. Brouwer, H. Bokhoven, S. Riazuddin (2016)
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityMolecular Psychiatry, 22
-
L. Mary, K. Chennen, C. Stoetzel, M. Antin, Anne-Sophie Leuvrey, Elsa Nourisson, E. Alanio-Detton, M. Antal, T. Attié-Bitach, P. Bouvagnet, R. Bouvier, A. Buénerd, A. Clémenson, L. Devisme, B. Gasser, B. Gilbert-Dussardier, F. Guimiot, P. Kien, B. Leroy, P. Loget, J. Martinovic, F. Pelluard, M. Perez, F. Petit, L. Pinson, C. Rooryck-Thambo, O. Poch, H. Dollfus, E. Schaefer, J. Muller (2019)
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genesClinical Genetics, 95
-
S. Head, P. Ordoukhanian, D. Salomon (2010)
Next-generation sequencingNature Reviews Drug Discovery, 9
-
Amir Hayat, Atif Khan, A. Rauf, Saadulah Khan, S. Hussain, A. Ullah, W. Ahmad, S. Shams, Bushra Khan (2019)
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.Clinical Dysmorphology
-
A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, M. DePristo (2010)
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.Genome research, 20 9
-
(2015)
Whole exome sequenc -
(2009)
The sequence alignment/map format -
F. Schmidt, T. Kapellen, S. Wiegand, A. Herbst, J. Wolf, E. Fröhlich-Reiterer, W. Rabl, T. Rohrer, R. Holl (2012)
Diabetes mellitus in children and adolescents with genetic syndromes.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association, 120 10
-
Sabine Janssen, Gokul Ramaswami, E. Davis, T. Hurd, R. Airik, J. Kasanuki, L. Kraak, Susan Allen, P. Beales, N. Katsanis, E. Otto, F. Hildebrandt (2010)
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsHuman Genetics, 129
-
I. Fokkema, P. Taschner, Gerard Schaafsma, J. Celli, J. Laros, J. Dunnen (2011)
LOVD v.2.0: the next generation in gene variant databasesHuman Mutation, 32
-
(2014)
IFT27 links the bbsome -
(2014)
Clinical and genetic characterization of Bardet - Biedl syndrome in Tunisia : Defining a strategy formolecular diagnosis -
M. Bahçeci, D. Dolek, P. Tutuncuoglu, A. Gorgel, G. Oruk, İ. Yenen (2012)
A case series of Bardet-Biedl Syndrome in a large Turkish family and review of the literatureEating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity, 17
-
(2001)
Genetic and mutational -
Jana Schwarz, D. Cooper, M. Schuelke, D. Seelow (2014)
MutationTaster2: mutation prediction for the deep-sequencing ageNature Methods, 11
-
G. Billingsley, J. Bin, K. Fieggen, J. Duncan, C. Gerth, K. Ogata, Shoshana Wodak, E. Traboulsi, G. Fishman, Andrew Paterson, D. Chitayat, T. Knueppel, J. Millán, G. Mitchell, C. Deveault, E. Héon (2010)
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient populationJournal of Medical Genetics, 47
-
(2014)
Clinical and genetic -
Aslı Solmaz, H. Onay, T. Atik, A. Aykut, Meltem Gunes, Ozge Yuregir, V. Baş, F. Hazan, O. Kirbiyik, F. Ozkinay (2015)
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.European journal of medical genetics, 58 12
-
P. Stenson, E. Ball, M. Mort, A. Phillips, Jacqueline Shiel, N. Thomas, S. Abeysinghe, M. Krawczak, D. Cooper (2003)
Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 21
-
Hui Yang, Kai Wang (2015)
Genomic variant annotation and prioritization with ANNOVAR and wANNOVARNature Protocols, 10
-
L. Safieh, Mohammed Aldahmesh, H. Shamseldin, M. Hashem, R. Shaheen, Hisham Alkuraya, S. Hazzaa, A. Al‐Rajhi, F. Alkuraya (2009)
Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mappingJournal of Medical Genetics, 47
-
P. Little (1996)
Genome analysisNature, 382
-
L. Jaffal, W. Joumaa, A. Assi, C. Helou, G. Cherfan, K. Zibara, I. Audo, C. Zeitz, S. Shamieh (2019)
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher SyndromesGenes, 10
-
P. Beales, N. Elçioğlu, A. Woolf, D. Parker, F. Flinter (1999)
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyJournal of Medical Genetics, 36
-
(2015)
SIFTmissense predictions for genomes -
Heng Li, R. Handsaker, Alec Wysoker, T. Fennell, Jue Ruan, Nils Homer, Gabor Marth, G. Abecasis, R. Durbin (2009)
The Sequence Alignment/Map format and SAMtoolsBioinformatics, 25
-
T. Bahşi, A. Unal, A. Bakır, E. Percin (2016)
THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.Genetic counseling, 27 3
-
Taras Oleksyk, Adam C, A. Auton, G. Abecasis, D. Altshuler, R. Durbin, D. Bentley, A. Chakravarti, A. Clark, P. Donnelly, E. Eichler, Paul Flicek, S. Gabriel, R. Gibbs, E. Green, M. Hurles, B. Knoppers, J. Korbel, E. Lander, Charles Lee, H. Lehrach, E. Mardis, Gabor Marth, G. McVean, D. Nickerson, Jeanette Schmidt, S. Sherry, Jun Wang, R. Wilson, K. Barnes, C. Beiswanger, E. Burchard, C. Bustamante, Hongyu Cai, H. Cao, N. Gerry, N. Gharani, Christopher Gignoux, S. Gravel, B. Henn, Danielle Jones, L. Jorde, J. Kaye, A. Keinan, A. Kent, A. Kerasidou, Yingrui Li, R. Mathias, A. Moreno-Estrada, P. Ossorio, M. Parker, Alissa Resch, C. Rotimi, C. Royal, Karla Sandoval, Yeyang Su, R. Sudbrak, Zhongming Tian, S. Tishkoff, L. Toji, C. Tyler-Smith, M. Via, Yuhong Wang, Huanming Yang, Ling Yang, Jia Zhu, L. Brooks, A. Felsenfeld, J. Mcewen, Yekaterina Vaydylevich, A. Duncanson, Michael Dunn, J. Schloss, Erik Garrison, Hyun Kang, J. Marchini, Shane McCarthy (2015)
A global reference for human genetic variationNature, 526
-
M. Warburg, R. Riise (2000)
Bardet-Biedl and Cohen syndromes: differential diagnostic criteriaJournal of Medical Genetics, 37
-
C. Deveault, G. Billingsley, J. Duncan, J. Bin, R. Theal, Ajoy Vincent, K. Fieggen, C. Gerth, N. Noordeh, E. Traboulsi, G. Fishman, D. Chitayat, T. Knueppel, J. Millán, F. Munier, D. Kennedy, S. Jacobson, A. Innes, G. Mitchell, K. Boycott, E. Héon (2011)
BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionHuman Mutation, 32
-
E. Schaefer, M. Durand, C. Stoetzel, B. Doray, B. Viville, Sophie Hellé, J. Danse, C. Hamel, P. Bitoun, A. Goldenberg, S. Finck, L. Faivre, S. Sigaudy, M. Holder, M. Vincent, V. Marion, D. Bonneau, A. Verloes, I. Nisand, J. Mandel, H. Dollfus (2011)
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.European journal of medical genetics, 54 2
-
A. Denniston, P. Beales, P. Tomlins, P. Good, M. Langford, L. Foggensteiner, Denise Williams, M. Tsaloumas (2014)
EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROMERetina, 34
-
(2018)
Manag - ing Bardet - Biedl syndrome — now and in the future -
(2019)
Bardet-Biedl syndrome: Antenatal -
N. Ramírez, Luis Marrero, S. Carlo, A. Cornier (2004)
Orthopaedic Manifestations of Bardet-Biedl SyndromeJournal of Pediatric Orthopaedics, 24
-
S. Manouvrier-Hanu, A. Moerman, J. Lefevre (1999)
Bardet-Biedl syndrome with preaxial polydactyly.American journal of medical genetics, 84 1
-
E. Héon, C. Westall, R. Carmi, K. Elbedour, C. Panton, L. Mackeen, E. Stone, V. Sheffield (2005)
Ocular phenotypes of three genetic variants of Bardet–Biedl syndromeAmerican Journal of Medical Genetics Part A, 132A
-
O. M’hamdi, C. Redin, C. Stoetzel, I. Ouertani, M. Châabouni, F. Maazoul, R. M'rad, J. Mandel, H. Dollfus, J. Muller, H. Chaabouni (2014)
Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosisClinical Genetics, 85
-
A. Ullah, Maryam Khalid, Muhammad Umair, S. Khan, M. Bilal, Saadullah Khan, W. Ahmad (2018)
Novel sequence variants in the MKKS gene cause Bardet‐Biedl syndrome with intra‐ and inter‐familial variable phenotypesCongenital Anomalies, 58
-
Robert Vaser, Swarnaseetha Adusumalli, Sim Leng, M. Šikić, P. Ng (2015)
SIFT missense predictions for genomesNature Protocols, 11
-
T. Eguether, J. Agustin, Brian Keady, J. Jonassen, Yinwen Liang, Richard Francis, K. Tobita, Colin Johnson, Z. Abdelhamed, C. Lo, G. Pazour (2014)
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.Developmental cell, 31 3
-
Evgeny Suspitsin, Evgeny Imyanitov (2016)
Bardet-Biedl SyndromeMolecular Syndromology, 7
-
(2010)
Clinical and molecular characterisation of Bardet - Biedl syndrome in consanguineous populations : The power of homozygositymapping -
(2005)
Ocular phenotypes of three genetic -
A. Pal (2021)
Exome SequencingSpringer Protocols Handbooks
-
R. Haws, T. McIntee, C. Green (2019)
Cutaneous findings in Bardet‐Biedl syndromeInternational Journal of Dermatology, 58
-
(2017)
Genetic characterization of Ital -
(2011)
BBS genotype-phenotype assessment -
H. Thorvaldsdóttir, James Robinson, J. Mesirov (2012)
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and explorationBriefings in Bioinformatics, 14
-
E. Forsythe, J. Kenny, C. Bacchelli, P. Beales (2018)
Managing Bardet–Biedl Syndrome—Now and in the FutureFrontiers in Pediatrics, 6
- Publisher
- Wiley
- Copyright
- © 2021 John Wiley & Sons Ltd/University College London
- ISSN
- 0003-4800
- eISSN
- 1469-1809
- DOI
- 10.1111/ahg.12401
- Publisher site
- See Article on Publisher Site
Abstract
Journal
Annals of Human Genetics – Wiley
Published: Jan 1, 2021
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