Marc Lalande - Related publications

University of Connecticut Health Center, Farmington, CT, United States 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Tomioka K, Miyamoto T, Akutsu SN, Yanagihara H, Fujita K, Royba E, Tauchi H, Yamamoto T, Koh I, Hirata E, Kudo Y, Kobayashi M, Okada S, Matsuura S. NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations. Scientific Reports. 11: 19661. PMID 34608183 DOI: 10.1038/s41598-021-98673-7   
2021 Tšuiko O, Vanneste M, Melotte C, Ding J, Debrock S, Masset H, Peters M, Salumets A, De Leener A, Pirard C, Kluyskens C, Hostens K, van de Vijver A, Peeraer K, Denayer E, et al. Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation. Npj Genomic Medicine. 6: 81. PMID 34620870 DOI: 10.1038/s41525-021-00246-0   
2021 Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, et al. An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son. Molecular Syndromology. 12: 312-320. PMID 34602959 DOI: 10.1159/000516323   
2021 Lengyel A, Pinti É, Nebral K, Pikó H, Ujfalusi A, Haas OA, Fekete G, Haltrich I. Chromosome 2q14.3 microdeletion encompassing gene in a patient carrying a complex chromosomal rearrangement. Journal of Genetics. 100. PMID 34553698   
2021 Li H, Hua L, Rouse MN, Li T, Pang S, Bai S, Shen T, Luo J, Li H, Zhang W, Wang X, Dubcovsky J, Chen S. Mapping and Characterization of a Wheat Stem Rust Resistance Gene in Durum Wheat "Kronos". Frontiers in Plant Science. 12: 751398. PMID 34721479 DOI: 10.3389/fpls.2021.751398   
2021 Tezuka T, Kitamura N, Imagawa S, Hasegawa A, Shiragaki K, He H, Yanase M, Ogata Y, Morikawa T, Yokoi S. Genetic Mapping of the Locus Causing Hybrid Lethality in Interspecific Hybrids. Plants (Basel, Switzerland). 10. PMID 34685871 DOI: 10.3390/plants10102062   
2021 Silva DMZA, Araya-Jaime C, Yamashita M, Vidal MR, Oliveira C, Porto-Foresti F, Artoni RF, Foresti F. Meiotic self-pairing of the Psalidodon (Characiformes, Characidae) iso-B chromosome: A successful perpetuation mechanism. Genetics and Molecular Biology. 44: e20210084. PMID 34617950 DOI: 10.1590/1678-4685-GMB-2021-0084   
2021 Umair M, Ahmad F, Ahmad S, Alam Q, Rehan M, Alqosaibi AI, Alnamshan MM, Rafeeq MM, Haque S, Sain ZM, Ismail M, Alfadhel M. A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly. Frontiers in Genetics. 12: 746949. PMID 34721536 DOI: 10.3389/fgene.2021.746949   
2021 Ruiz-Torres L, Mora P, Ruiz-Mena A, Vela J, Mancebo FJ, Montiel EE, Palomeque T, Lorite P. Cytogenetic Analysis, Heterochromatin Characterization and Location of the rDNA Genes of (Coleoptera, Meloidae); A Species with an Unexpected High Number of rDNA Clusters. Insects. 12. PMID 33925926 DOI: 10.3390/insects12050385   
2021 He P, Wei P, Ma Y, Hu S, Yao J, Jiang X, Xu Y, Zhu P, Wei M, Jiang W, Peng J. Candidate sex-associated gene identification in Trachinotus ovatus (Carangidae) using an integrated SLAF-seq and bulked segregant analysis approach. Gene. 146026. PMID 34687789 DOI: 10.1016/j.gene.2021.146026   
2021 Tosh J, Tybulewicz V, Fisher EMC. Mouse models of aneuploidy to understand chromosome disorders. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 34719726 DOI: 10.1007/s00335-021-09930-z   
2021 Fan B, Xie D, Li Y, Wang X, Qi X, Li S, Meng Z, Chen X, Peng J, Yang Y, Li Y, Wang L. A single intronic single nucleotide polymorphism in splicing site of steroidogenic enzyme is associated with phenotypic sex in oyster pompano, . Proceedings. Biological Sciences. 288: 20212245. PMID 34784765 DOI: 10.1098/rspb.2021.2245   
2021 Pacholewska A, Grimm C, Herling CD, Lienhard M, Königs A, Timmermann B, Altmüller J, Mücke O, Reinhardt HC, Plass C, Herwig R, Hallek M, Schweiger MR. Altered DNA Methylation Profiles in Mutated CLL Patients. International Journal of Molecular Sciences. 22. PMID 34502260 DOI: 10.3390/ijms22179337   
2021 Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, et al. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. Journal of Personalized Medicine. 11. PMID 34834549 DOI: 10.3390/jpm11111197   
2021 Sinclair-Waters M, Piavchenko N, Ruokolainen A, Aykanat T, Erkinaro J, Primmer CR. Refining the genomic location of single nucleotide polymorphism variation affecting Atlantic salmon maturation timing at a key large-effect locus. Molecular Ecology. PMID 34716945 DOI: 10.1111/mec.16256   
2021 Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Yang CF, Tsai MC, Chu TH, Chuang CK, Lin SP. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. Journal of Personalized Medicine. 11. PMID 34834418 DOI: 10.3390/jpm11111066   
2021 Zhang Z, Bai H, Blumenfeld J, Ramnauth A, Barash I, Prince M, Tan A, Michaeel A, Liu G, Chicos I, Rennert L, Giannakopoulos S, Larbi K, Hughes S, Salvatore S, et al. Detection of and Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing. Journal of the American Society of Nephrology : Jasn. PMID 34716216 DOI: 10.1681/ASN.2021050690   
2021 Zhang X, Liu L, Liu Y, Pan X. Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype. Frontiers in Pediatrics. 9: 732645. PMID 34746057 DOI: 10.3389/fped.2021.732645   
2021 Hall JPJ, Wright RCT, Harrison E, Muddiman KJ, Wood AJ, Paterson S, Brockhurst MA. Plasmid fitness costs are caused by specific genetic conflicts enabling resolution by compensatory mutation. Plos Biology. 19: e3001225. PMID 34644303 DOI: 10.1371/journal.pbio.3001225   
2021 Xu B, Dai J, Bi J, Fu Y. [Application of next generation sequencing in 3 Waardenburg syndrome]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 910-913;919. PMID 34628814 DOI: 10.13201/j.issn.2096-7993.2021.10.010   
2021 Ma J, Huang R, Ma XL, Li X, Zhang TS, Ruan B. [Identification and genetic analysis of new mutations in gene of BOS syndrome]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery. 56: 966-971. PMID 34666446 DOI: 10.3760/cma.j.cn115330-20210126-00040   
2021 Ni G, Tan J, Wang M, Ping N, Liu M, He Y. Polymorphisms of the AS3MT gene are associated with arsenic methylation capacity and damage to the P21 gene in arsenic trioxide plant workers. Toxicology and Industrial Health. 7482337211013321. PMID 34730462 DOI: 10.1177/07482337211013321   
2021 Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, Rehman A, Nawaz H, Halswick J, Rehman SU, Ahmad S, Muzammal M, Muhammad N, Jan A, Khan S, et al. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein truncating mutations of ASPM. Biotechnology and Applied Biochemistry. PMID 34826358 DOI: 10.1002/bab.2286   
2021 Jha TB. Karyotype diversity in cultivated and wild Indian rice through EMA-based chromosome analysis. Journal of Genetics. 100. PMID 34787116   
2021 Vendelbo NM, Mahmood K, Sarup P, Kristensen PS, Orabi J, Jahoor A. Genomic Scan of Male Fertility Restoration Genes in a 'Gülzow' Type Hybrid Breeding System of Rye ( L.). International Journal of Molecular Sciences. 22. PMID 34502186 DOI: 10.3390/ijms22179277   
2021 Bu F, Cheng Q, Zhang Y, Zhang X, Yan K, Liu F, Li Z, Lu X, Ren Y, Liu S. Discovery of Missing Proteins from an Aneuploidy Cell Line Using a Proteogenomic Approach. Journal of Proteome Research. PMID 34748338 DOI: 10.1021/acs.jproteome.1c00772   
2021 Li Q, Zhu X, Wang C, Meng J, Chen D, Kong X. Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome Exome Sequencing and Low-Coverage Whole-Genome Sequencing. Frontiers in Genetics. 12: 707411. PMID 34616427 DOI: 10.3389/fgene.2021.707411   
2021 Zhou D, Rudnicki M, Chua GT, Lawrance SK, Zhou B, Drew JL, Barbar-Smiley F, Armstrong TK, Hilt ME, Birmingham DJ, Passler W, Auletta JJ, Bowden SA, Hoffman RP, Wu YL, et al. Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases. Frontiers in Immunology. 12: 739430. PMID 34764957 DOI: 10.3389/fimmu.2021.739430   
2021 Mkaouar R, Riahi Z, Charfeddine C, Chelly I, Boudabbous H, Dallali H, Bonnet C, Hechmi M, Bekri S, Zitouna N, Zekri L, Tounsi A, Kefi R, Marrakchi J, Messaoud O, et al. Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment. Plos One. 16: e0258202. PMID 34614013 DOI: 10.1371/journal.pone.0258202   
2021 Mostafa T, Abdel-Hamid I, Taymour M, Ali O. Genetic variants in varicocele-related male infertility: a systematic review and future directions. Human Fertility (Cambridge, England). 1-17. PMID 34587863 DOI: 10.1080/14647273.2021.1983214   
2021 Miller C, Gertsen BG, Schroeder AL, Fong CT, Iqbal MA, Zhang B. Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review. Molecular Cytogenetics. 14: 48. PMID 34620209 DOI: 10.1186/s13039-021-00566-x   
2021 Teng MS, Wu S, Hsu LA, Chou HH, Ko YL. Pleiotropic Effects of Functional Variants on Cardiometabolic, Renal, and Hematological Traits in the Taiwanese Population. International Journal of Molecular Sciences. 22. PMID 34638981 DOI: 10.3390/ijms221910641   
2021 Liu W, Mahdessian H, Helgadottir H, Zhou X, Thutkawkorapin J, Jiao X, , Wolk A, Lindblom A. Colorectal cancer risk susceptibility loci in a Swedish population. Molecular Carcinogenesis. PMID 34758156 DOI: 10.1002/mc.23366   
2021 Liu S, Gao Z, Wang X, Luan F, Dai Z, Yang Z, Zhang Q. Nucleotide variation in the phytoene synthase (ClPsy1) gene contributes to golden flesh in watermelon (Citrullus lanatus L.). Tag. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik. PMID 34633472 DOI: 10.1007/s00122-021-03958-0   
2021 Deng R, McCalman MT, Bossuyt TP, Barakat TS. Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature. Frontiers in Genetics. 12: 716874. PMID 34539745 DOI: 10.3389/fgene.2021.716874   
2021 Brereton RE, Nickerson SL, Woodward KJ, Edwards T, Sivamoorthy S, Ramos Vasques Walters F, Chabros V, Marchin V, Grumball T, Kennedy D, Uzaraga J, Peverall J, Arscott G, Beilby J, Choong CS, et al. Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement. American Journal of Medical Genetics. Part A. 185: 3136-3145. PMID 34223693 DOI: 10.1002/ajmg.a.62391   
2021 Qaiser F, Sadoway T, Yin Y, Zulfiqar Ali Q, Nguyen CM, Shum N, Backstrom I, Marques PT, Tabarestani S, Munhoz RP, Krings T, Pearson CE, Yuen RKC, Andrade DM. Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome. Brain Communications. 3: fcab207. PMID 34622207 DOI: 10.1093/braincomms/fcab207   
2021 Kuchta-Gładysz M, Wójcik E, Grzesiakowska A, Rymuza K, Szeleszczuk O. Chromosomal Instability at Fragile Sites in Blue Foxes, Silver Foxes, and Their Interspecific Hybrids. Animals : An Open Access Journal From Mdpi. 11. PMID 34207981 DOI: 10.3390/ani11061743   
2021 Comai L, Amundson KR, Ordoñez B, Zhao X, Braz GT, Jiang J, Henry IM. LD-CNV: rapid and simple discovery of chromosomal translocations using linkage disequilibrium between copy number variable loci. Genetics. 219. PMID 34740239 DOI: 10.1093/genetics/iyab137   
2021 Rehman SU, Khan RM, Khan RA, Hussain I, Muhammad N, Arif M. Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR. Jpma. the Journal of the Pakistan Medical Association. 71: 2250-2254. PMID 34580524 DOI: 10.47391/JPMA.206   
2021 Bi Y, Feng W, Kang Y, Wang K, Yang Y, Qu L, Chen H, Lan X, Pan C. Detection of mRNA Expression and Copy Number Variations Within the Goat Gene Associated With Litter Size. Frontiers in Veterinary Science. 8: 758705. PMID 34733908 DOI: 10.3389/fvets.2021.758705   
2021 Marhabaie M, Hickey SE, Miller KE, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harbor Molecular Case Studies. PMID 34667072 DOI: 10.1101/mcs.a006122   
2021 Leitao Braga B, Lisboa Gomes N, Nishi MY, Freire BL, Batista RL, D Faria Junior JA, Funari MFA, Figueredo Benedetti AF, de Moraes Narcizo A, Cavalca Cardoso L, Lerario AM, Guerra-Junior G, Frade Costa EM, Domenice S, Jorge AAL, et al. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 1-7. PMID 34518484 DOI: 10.1159/000518091   
2021 Hu Z, Shi X, Chen X, Zheng J, Zhang A, Wang H, Fu Q. Fine-mapping and identification of a candidate gene controlling seed coat color in melon (Cucumis melo L. var. chinensis Pangalo). Tag. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik. PMID 34825925 DOI: 10.1007/s00122-021-03999-5   
2021 Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic Variation as an Incidental Finding in the Pediatric Next Generation Sequencing Era. Cold Spring Harbor Molecular Case Studies. PMID 34716204 DOI: 10.1101/mcs.a006135   
2021 Tian S, Ge J, Ai G, Jiang J, Liu Q, Chen X, Liu M, Yang J, Zhang X, Yuan L. A 2.09 Mb fragment translocation on chromosome 6 causes abnormalities during meiosis and leads to less seed watermelon. Horticulture Research. 8: 256. PMID 34848689 DOI: 10.1038/s41438-021-00687-9   
2021 Song J, Zhang Q, Lu B, Gou Z, Wang T, Tang H, Xiang J, Jiang W, Deng X. Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion. Frontiers in Genetics. 12: 696624. PMID 34630509 DOI: 10.3389/fgene.2021.696624   
2021 Rashid M, Alasiri A, Al Balwi MA, Alkhaldi A, Alsuhaibani A, Alsultan A, Alharbi T, Alomair L, Almuzzaini B. Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing. Genes. 12. PMID 34573308 DOI: 10.3390/genes12091326   
2021 Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, Golchehre Z, Keramatipour M. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. Molecular Biology Reports. 48: 5339-5345. PMID 34191236 DOI: 10.1007/s11033-021-06508-5   
2021 Jiang Y, Duan L, Guan F, Yao F, Long L, Wang Y, Zhao X, Li H, Li W, Xu Q, Jiang QT, Wang J, Wei YM, Ma J, Kang H, et al. Exome Sequencing from Bulked Segregant Analysis Identifies a Gene for All Stage Resistance to Stripe Rust on Chromosome 1AL in Chinese Wheat Landrace Xiaohemai. Plant Disease. PMID 34818919 DOI: 10.1094/PDIS-08-21-1618-RE