Pedigree
"Pedigree" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
| Descriptor ID |
D010375
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| MeSH Number(s) |
E05.393.673
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| Concept/Terms |
Identity, Genetic- Identity, Genetic
- Genetic Identities
- Identities, Genetic
- Genetic Identity
Family Tree- Family Tree
- Family Trees
- Tree, Family
- Trees, Family
- Genealogical Tree
- Genealogical Trees
- Tree, Genealogical
- Trees, Genealogical
- Genealogic Tree
- Genealogic Trees
- Tree, Genealogic
- Trees, Genealogic
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Below are MeSH descriptors whose meaning is more general than "Pedigree".
Below are MeSH descriptors whose meaning is more specific than "Pedigree".
This graph shows the total number of publications written about "Pedigree" by people in this website by year, and whether "Pedigree" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 6 | 6 | | 1997 | 0 | 7 | 7 | | 1998 | 0 | 5 | 5 | | 1999 | 0 | 10 | 10 | | 2000 | 0 | 8 | 8 | | 2001 | 1 | 6 | 7 | | 2002 | 0 | 11 | 11 | | 2003 | 0 | 6 | 6 | | 2004 | 0 | 11 | 11 | | 2005 | 3 | 13 | 16 | | 2006 | 1 | 14 | 15 | | 2007 | 0 | 13 | 13 | | 2008 | 1 | 9 | 10 | | 2009 | 1 | 7 | 8 | | 2010 | 1 | 11 | 12 | | 2011 | 1 | 17 | 18 | | 2012 | 0 | 15 | 15 | | 2013 | 0 | 18 | 18 | | 2014 | 0 | 17 | 17 | | 2015 | 0 | 22 | 22 | | 2016 | 0 | 16 | 16 | | 2017 | 2 | 17 | 19 | | 2018 | 2 | 19 | 21 | | 2019 | 1 | 13 | 14 | | 2020 | 2 | 13 | 15 | | 2021 | 1 | 11 | 12 | | 2022 | 0 | 2 | 2 | | 2023 | 0 | 1 | 1 | | 2024 | 1 | 3 | 4 | | 2025 | 3 | 7 | 10 | | 2026 | 0 | 2 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Pedigree" by people in Profiles.
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Watts LM, Chang MSM, Lewis-Orr E, Walton IS, Leinhos L, Tooze RS, Pei Y, Calpena E, Vedovato-Dos-Santos JH, Steel D, Reid KM, Kurian MA, Mohammad SS, Cantagrel V, Siquier K, Boddaert N, Rio M, Blyth M, Kraus A, Al Mutairi F, Holder SE, Clowes VE, Cobben JM, Timberlake AT, Elias ER, Stewart H, Johnson D, Cohen JS, Barañano KW, Ceulemans S, Jones MC, Ortega Rico RI, Haug MG, Berland S, Bombei HM, Paulson A, Sidhu A, Gooch CF, da Rocha KM, Passos Bueno MR, Topa A, Muslimovic AZ, Maltese G, Tan TY, McCann E, Lord H, Chin HL, Lin J, Li-Meng Goh D, Keren B, Charles P, Delchev T, Avdjieva-Tzavella D, Alawbathani S, Almeida L, Kdissa A, Al-Ali R, Bertoli-Avella AM, Johnson D, Wilkie AOM, Arkell RM, Shears DJ, Twigg SRF. Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis. Genet Med. 2026 Jun; 28(6):102585.
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Slater BA, Seymour S, Burt E, Kierstein J, Larson AA, Taylor MRG. Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia. Clin Genet. 2026 Jun; 109(6):1049-1054.
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Mirzaa GM, Yan K, Relator R, Levesque M, Jayasinghe P, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan KG, Guillen Sacoto MJ, Dobyns WB, Park KL, Fernández-Mayoralas DM, Fernández-Jaén A, Jayakar P, Palomares-Bralo M, Santos-Simarro F, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, ?terbová K, Smal N, Weckhuysen S, Oegema R, Innes AM, Koboldt DC, Ben-Omran T, Yeh RC, Kruer MC, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci SA, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald KA, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B, Picketts DJ. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Nat Commun. 2025 Nov 10; 16(1):9875.
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Doss RM, Wirth SA, Pitsch JW, Dias CM, Gropman AL, Breuss MW. Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. HGG Adv. 2026 Jan 15; 7(1):100543.
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Williams CM, Scelza BA, Slack SD, Font-Porterias N, Al-Hindi DR, Mathias RA, Watson H, Barnes KC, Lange E, Johnson RK, Gignoux CR, Ramachandran S, Henn BM. A rapid accurate approach to inferring pedigrees in endogamous populations. Genetics. 2025 08 06; 230(4).
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Kronenberg Z, Nolan C, Porubsky D, Mokveld T, Rowell WJ, Lee S, Dolzhenko E, Chang PC, Holt JM, Saunders CT, Olson ND, Steely CJ, McGee S, Guarracino A, Koundinya N, Harvey WT, Watkins WS, Munson KM, Hoekzema K, Chua KP, Chen X, Fanslow C, Lambert C, Dashnow H, Garrison E, Smith JD, Lansdorp PM, Zook JM, Carroll A, Jorde LB, Neklason DW, Quinlan AR, Eichler EE, Eberle MA. The Platinum Pedigree: a long-read benchmark for genetic variants. Nat Methods. 2025 Aug; 22(8):1669-1676.
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Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Goldberg ME, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Human de novo mutation rates from a four-generation pedigree reference. Nature. 2025 07; 643(8071):427-436.
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Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton DM, Mann N, Wu CW, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken GAC, Lomjansook K, Braun A, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Awad HS, Eid LA, El Desoky S, Shalaby MA, Kari JA, Ooda S, Fathy HM, Soliman NA, Nabhan M, Abdelrahman S, Hilger AC, Mane SM, Ferguson MA, Tasic V, Shril S, Hildebrandt F. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. Genet Med. 2025 Jul; 27(7):101432.
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Santos-Cortez RLP, Elling CL, Gomez HZ, Einarsdottir E, Kere J, Mattila PS, Hafrén L, Ryan AF. Rare and low-frequency variants in families with otitis media. J Mol Med (Berl). 2025 May; 103(5):559-570.
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Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J, Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. Am J Hum Genet. 2025 04 03; 112(4):829-845.
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