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Claire Elsa Redin, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. Eur J Hum Genet. 2018 07; 26(7):996-1006. PMID: 29695756.
    Citations:    Fields:    
  2. Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018 03; 26(3):374-381. PMID: 29321672.
    Citations:    Fields:    Translation:HumansCells
  3. Quartier A, Chatrousse L, Redin C, Keime C, Haumesser N, Maglott-Roth A, Brino L, Le Gras S, Benchoua A, Mandel JL, Piton A. Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder. Biol Psychiatry. 2018 Aug 15; 84(4):239-252. PMID: 29428674.
    Citations: 1     Fields:    
  4. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017 07 01; 74(7):806-812. PMID: 28558098.
    Citations:    Fields:    Translation:Humans
  5. Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36. PMID: 28260531.
    Citations: 9     Fields:    Translation:Humans
  6. Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel JL, Faivre L, Piton A. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017 04; 25(4):423-431. PMID: 28176767.
    Citations: 4     Fields:    Translation:HumansCells
  7. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45. PMID: 27841880.
    Citations: 14     Fields:    Translation:Humans
  8. Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033. PMID: 27745839.
    Citations: 7     Fields:    Translation:Humans
  9. Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Am J Med Genet A. 2016 08; 170(8):2103-10. PMID: 27256868.
    Citations: 1     Fields:    Translation:HumansCells
  10. Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. J Neurol. 2016 Jul; 263(7):1314-22. PMID: 27142713.
    Citations: 1     Fields:    Translation:Humans
  11. Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. J Hum Genet. 2016 May; 61(5):447-50. PMID: 26763875.
    Citations: 9     Fields:    Translation:Humans
  12. Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov; 23(11):1482-7. PMID: 25920557.
    Citations: 16     Fields:    Translation:HumansCells
  13. Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, Blavier A, Laporte J, Muller J. VaRank: a simple and powerful tool for ranking genetic variants. PeerJ. 2015; 3:e796. PMID: 25780760.
    Citations: 18     
  14. Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M. Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. JAMA Neurol. 2014 Oct; 71(10):1305-10. PMID: 25089919.
    Citations: 6     Fields:    Translation:Humans
  15. Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet. 2014 Nov; 51(11):724-36. PMID: 25167861.
    Citations: 55     Fields:    Translation:Humans
  16. Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL. 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. Eur J Hum Genet. 2014 Jun; 22(6):776-83. PMID: 24169519.
    Citations: 11     Fields:    Translation:HumansCells
  17. Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet. 2013 Aug 08; 93(2):368-83. PMID: 23871722.
    Citations: 67     Fields:    Translation:HumansCells
  18. Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clin Genet. 2014 May; 85(5):476-81. PMID: 23692385.
    Citations: 5     Fields:    Translation:Humans
  19. M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clin Genet. 2014 Feb; 85(2):172-7. PMID: 23432027.
    Citations: 4     Fields:    Translation:HumansCells
  20. Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet. 2012 Aug; 49(8):502-12. PMID: 22773737.
    Citations: 43     Fields:    Translation:Humans
  21. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012 Aug 15; 21(16):3695-702. PMID: 22653751.
    Citations: 19     Fields:    Translation:HumansCells
  22. Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J. A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science. 2012 Jul 06; 337(6090):96-100. PMID: 22628558.
    Citations: 149     Fields:    Translation:HumansAnimalsCells
  23. Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H. Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Mol Syndromol. 2011 Sep; 1(6):273-281. PMID: 22190896.
    Citations: 23     
  24. Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Ray P, Kilani Z, Barratt CL, Viville S. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011 Mar 11; 88(3):344-50. PMID: 21397063.
    Citations: 28     Fields:    Translation:HumansCells
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.