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Journal articles on the topic 'Incomplete penetrance'

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Author: Grafiati

Published: 4 June 2021

Last updated: 20 February 2023

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1

Seymen, F., K. E. Lee, M. Koruyucu, K. Gencay, M. Bayram, E. B. Tuna, Z. H. Lee, and J. W. Kim. "ENAM Mutations with Incomplete Penetrance." Journal of Dental Research 93, no. 10 (August 20, 2014): 988–92. http://dx.doi.org/10.1177/0022034514548222.

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2

Otto, P. A., O. Frota-Pessoa, and S. P. Polcan. "Snyder's Ratios With Incomplete Penetrance." Journal of Heredity 85, no. 4 (July 1994): 331–35. http://dx.doi.org/10.1093/oxfordjournals.jhered.a111473.

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3

Shieh, Joseph T. C. "Genomic Sequencing Expansion and Incomplete Penetrance." Pediatrics 143, Supplement 1 (January 2019): S22—S26. http://dx.doi.org/10.1542/peds.2018-1099e.

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4

Caporali, Leonardo, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, and Valerio Carelli. "Incomplete penetrance in mitochondrial optic neuropathies." Mitochondrion 36 (September 2017): 130–37. http://dx.doi.org/10.1016/j.mito.2017.07.004.

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5

Plaisancié, Julie, Dominique Brémond-Gignac, Bénédicte Demeer, Véronique Gaston, Alain Verloes, Lucas Fares-Taie, Sylvie Gerber, Jean-Michel Rozet, Patrick Calvas, and Nicolas Chassaing. "Incomplete penetrance of biallelic ALDH1A3 mutations." European Journal of Medical Genetics 59, no. 4 (April 2016): 215–18. http://dx.doi.org/10.1016/j.ejmg.2016.02.004.

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6

Liu, Aijie, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, et al. "Mosaicism and incomplete penetrance of PCDH19 mutations." Journal of Medical Genetics 56, no. 2 (October 4, 2018): 81–88. http://dx.doi.org/10.1136/jmedgenet-2017-105235.

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BackgroundMutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.ObjectiveWe aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19-related epilepsy.MethodsTwo male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing. Forty female patients with PCDH19 variants were identified by Sanger sequencing and Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used to quantify the mutant allelic fractions (MAFs) in 20 families with PCDH19 variants.ResultsFive mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred PCDH19 variant identified by Sanger sequencing and MLPA, Sanger sequencing revealed two mosaic fathers (9%, 2/22), one with two affected daughters and the other with an affected child. Two asymptomatic mosaic fathers were confirmed as gonosomal mosaicism, with MAFs ranging from 4.16% to 37.38% and from 1.27% to 19.13%, respectively. In 11 families with apparent de novo variants, 1 female patient was identified as a mosaic with a blood MAF of 26.72%.ConclusionOur study provides new insights into phenotype-genotype correlations in PCDH19 related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.

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7

Raj, Arjun, Scott A. Rifkin, Erik Andersen, and Alexander van Oudenaarden. "Variability in gene expression underlies incomplete penetrance." Nature 463, no. 7283 (February 2010): 913–18. http://dx.doi.org/10.1038/nature08781.

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8

Todarello, Giovanna, Ningping Feng, Bhaskar S. Kolachana, Chao Li, Radhakrishna Vakkalanka, Alessandro Bertolino, Daniel R. Weinberger, and Richard E. Straub. "Incomplete penetrance of NRXN1 deletions in families with schizophrenia." Schizophrenia Research 155, no. 1-3 (May 2014): 1–7. http://dx.doi.org/10.1016/j.schres.2014.02.023.

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9

Legeai-Mallet, Laurence, Arnold Munnich, Pierre Maroteaux, and Martine Le Merrer. "Incomplete penetrance and expressivity skewing in hereditary multiple exostoses." Clinical Genetics 52, no. 1 (June 28, 2008): 12–16. http://dx.doi.org/10.1111/j.1399-0004.1997.tb02508.x.

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10

Fanin, Marina, Enrico Peterle, Chiara Fritegotto, Anna C. Nascimbeni, Elisabetta Tasca, Annalaura Torella, Vincenzo Nigro, and Corrado Angelini. "Incomplete penetrance in limb-girdle muscular dystrophy type 1F." Muscle & Nerve 52, no. 2 (June 7, 2015): 305–6. http://dx.doi.org/10.1002/mus.24539.

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11

Moussa, Mohammad K., Ali Alayane, Ryan Bou Raad, Ahmad Ghabcha, Zaynab Khalaf, Hussein Zreik, Youssef Zaarour, and Oussama Mansour. "Hereditary Multiple Osteochondroma with Incomplete Penetrance in a Lebanese Family: A Case Report." International Journal of Clinical Research 2, no. 1 (July 21, 2021): 51–56. http://dx.doi.org/10.38179/ijcr.v2i1.33.

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Background: Hereditary multiple osteochondroma (HMO) is a rare autosomal dominant disease with high penetrance reaching 95 to 100%. It manifests during childhood in most of the times. The spectrum of the disease is wide. It is classified into 2 types depending on the number of cases and the penetrance in the same generation. The most feared complication of this disease is the malignant transformation. Establishing a screening protocol requires the identification of the true prevalence and penetrance of the disease. Case Report: A 17-year-old girl presented with multiple painful lesions in the lower extremities. Physical examination of the patient and her siblings allowed the diagnosis of HMO with incomplete penetrance, and the construction of a pedigree of the family. Surgical treatment was sufficient to control the patient’s symptoms. Conclusion: Being the first case in Lebanon, this report adds more awareness about this rare disease. By increasing awareness, this report can have an impact on the transmission and the number of affected cases in the country. Furthermore, these data, when added to the available evidence worldwide, can be used in the determination of true penetrance of the disease, and the creation of accurate classification and screening protocol.

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12

Lan, Yuanzheng, Yuhong Chen, Yunsheng Qiao, Qingdan Xu, Ruyi Zhai, Xinghuai Sun, Jihong Wu, and Xueli Chen. "A 69 kb Deletion in chr19q13.42 including PRPF31 Gene in a Chinese Family Affected with Autosomal Dominant Retinitis Pigmentosa." Journal of Clinical Medicine 11, no. 22 (November 11, 2022): 6682. http://dx.doi.org/10.3390/jcm11226682.

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We aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) and characterize the underlying molecular mechanisms of incomplete penetrance in a Chinese family affected with adRP. All enrolled family members underwent ophthalmic examinations. Whole-genome sequencing (WGS), multiplex ligation-dependent probe amplification (MLPA), linkage analysis and haplotype construction were performed in all participants. RNA-seq was performed to analyze the regulating mechanism of incomplete penetrance among affected patients, mutation carriers and healthy controls. In the studied family, 14 individuals carried a novel heterozygous large deletion of 69 kilobase (kb) in 19q13.42 encompassing exon 1 of the PRPF31 gene and five upstream genes: TFPT, OSCAR, NDUFA3, TARM1, and VSTM1. Three family members were sequenced and diagnosed as non-penetrant carriers (NPCs). RNA-seq showed significant differential expression of genes in deletion between mutation carriers and healthy control. The RP11 pedigree in this study was the largest pedigree compared to other reported RP11 pedigrees with large deletions. Early onset in all affected members in this pedigree was considered to be a special phenotype and was firstly reported in a RP11 family for the first time. Differential expression of PRPF31 between affected and unaffected subjects indicates a haploinsufficiency to cause the disease in the family. The other genes with significant differential expression might play a cooperative effect on the penetrance of RP11.

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13

Green, David J., Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, and Panagiotis I. Sergouniotis. "Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders." Genes 11, no. 2 (February 9, 2020): 179. http://dx.doi.org/10.3390/genes11020179.

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Inherited eye disorders (IED) are a heterogeneous group of Mendelian conditions that are associated with visual impairment. Although these disorders often exhibit incomplete penetrance and variable expressivity, the scale and mechanisms of these phenomena remain largely unknown. Here, we utilize publicly-available genomic and transcriptomic datasets to gain insights into variable penetrance in IED. Variants in a curated set of 340 IED-implicated genes were extracted from the Human Gene Mutation Database (HGMD) 2019.1 and cross-checked with the Genome Aggregation Database (gnomAD) 2.1 control-only dataset. Genes for which >1 variants were encountered in both HGMD and gnomAD were considered to be associated with variable penetrance (n = 56). Variability in gene expression levels was then estimated for the subset of these genes that was found to be adequately expressed in two relevant resources: the Genotype-Tissue Expression (GTEx) and Eye Genotype Expression (EyeGEx) datasets. We found that genes suspected to be associated with variable penetrance tended to have significantly more variability in gene expression levels in the general population (p = 0.0000015); this finding was consistent across tissue types. The results of this study point to the possible influence of cis and/or trans-acting elements on the expressivity of variants causing Mendelian disorders. They also highlight the potential utility of quantifying gene expression as part of the investigation of families showing evidence of variable penetrance.

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14

Kemet, Shakkaura. "I Can’t Breathe during Interviews — The Incomplete Penetrance of Antiracism." New England Journal of Medicine 384, no. 19 (May 13, 2021): e72. http://dx.doi.org/10.1056/nejmpv2104827.

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15

Stokes, Bethany, Seth I. Berger, Beth A. Hall, Karin Weiss, Ariel F. Martinez, Donald W. Hadley, David R. Murdock, et al. "SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly." Congenital Anomalies 58, no. 1 (August 1, 2017): 29–32. http://dx.doi.org/10.1111/cga.12234.

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16

El Khattabi, Laïla, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Sonia Bouquillon, Anne-Lise Delezoide, et al. "Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1." European Journal of Human Genetics 23, no. 8 (November 5, 2014): 1010–18. http://dx.doi.org/10.1038/ejhg.2014.230.

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17

Binder, Benjamin J., Kerry A. Landman, Donald F. Newgreen, and Joshua V. Ross. "Incomplete penetrance: The role of stochasticity in developmental cell colonization." Journal of Theoretical Biology 380 (September 2015): 309–14. http://dx.doi.org/10.1016/j.jtbi.2015.05.028.

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18

Gruber, Conor, and Dusan Bogunovic. "Incomplete penetrance in primary immunodeficiency: a skeleton in the closet." Human Genetics 139, no. 6-7 (February 17, 2020): 745–57. http://dx.doi.org/10.1007/s00439-020-02131-9.

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19

WHITTEMORE, A. S., J. B. KELLER, and M. J. WARD. "Family data determine all parameters in Mendelian incomplete penetrance models." Annals of Human Genetics 55, no. 2 (May 1991): 175–77. http://dx.doi.org/10.1111/j.1469-1809.1991.tb00410.x.

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20

Piaceri, I., A. Chiari, C. Galli, S. Bagnoli, C. Ferrari, S. Trujillo Saavedra, M. A. Molinari, G. Vinceti, S. Sorbi, and B. Nacmias. "Incomplete penetrance in familial Alzheimer’s disease with PSEN1 Ala260Gly mutation." Neurological Sciences 41, no. 8 (April 23, 2020): 2263–66. http://dx.doi.org/10.1007/s10072-020-04421-6.

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21

Kim, Stella K., Jonathan L. Haines, Eliot L. Betson, and Thaddeus P. Dryja. "Nonallelic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa with Incomplete Penetrance." Genomics 22, no. 3 (August 1994): 659–60. http://dx.doi.org/10.1006/geno.1994.1446.

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22

Ahluwalia, Jasmine K., Manoj Hariharan, Rhishikesh Bargaje, Beena Pillai, and Vani Brahmachari. "Incomplete penetrance and variable expressivity: is there a microRNA connection?" BioEssays 31, no. 9 (September 2009): 981–92. http://dx.doi.org/10.1002/bies.200900066.

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23

Giordano, Carla, Luisa Iommarini, Luca Giordano, Alessandra Maresca, Annalinda Pisano, Maria Lucia Valentino, Leonardo Caporali, et al. "Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy." Brain 137, no. 2 (December 24, 2013): 335–53. http://dx.doi.org/10.1093/brain/awt343.

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24

Asai-Coakwell, M., C. R. French, M. Ye, K. Garcha, K. Bigot, A. G. Perera, K. Staehling-Hampton, et al. "Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes." Human Molecular Genetics 18, no. 6 (January 6, 2009): 1110–21. http://dx.doi.org/10.1093/hmg/ddp008.

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25

Adams, PC, and S. Chakrabarti. "Incomplete penetrance for hemochromatosis: A gene in search of a disease?" Gastroenterology 114 (April 1998): A1199. http://dx.doi.org/10.1016/s0016-5085(98)84866-x.

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26

López-Fernández, Hernán, and Daniel I. Bolnick. "What Causes Partial F1 Hybrid Viability? Incomplete Penetrance versus Genetic Variation." PLoS ONE 2, no. 12 (December 12, 2007): e1294. http://dx.doi.org/10.1371/journal.pone.0001294.

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27

Feldman, George J., Christopher L. Peters, Jill A. Erickson, Bryan A. Hozack, Ranna Jaraha, and Javad Parvizi. "Variable Expression and Incomplete Penetrance of Developmental Dysplasia of the Hip." Journal of Arthroplasty 27, no. 4 (April 2012): 527–32. http://dx.doi.org/10.1016/j.arth.2011.10.016.

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28

Bhatia, Divya, Priyanka Khandelwal, Aditi Sinha, Pankaj Hari, Hae Il Cheong, and Arvind Bagga. "Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome." Pediatric Nephrology 30, no. 12 (August 26, 2015): 2215–20. http://dx.doi.org/10.1007/s00467-015-3189-0.

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29

Kratochvilova, Jana, and Jack Favor. "Phenotypic characterization and genetic analysis of twenty dominant cataract mutations detected in offspring of irradiated male mice." Genetical Research 52, no. 2 (October 1988): 125–34. http://dx.doi.org/10.1017/s001667230002749x.

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SummaryTwenty autosomal dominant cataract mutations were detected among the offspring of male mice irradiated with γ- or X-rays. The single or fractionated doses ranged from 5.34 to 10.2 Gy. The phenotypic manifestation and penetrance of the mutations as well as fertility and viability of the mutants were studied by extensive breeding. Manifestation of 4 mutations was limited to the lens. Sixteen mutations were characterized by multiple ocular anomalies, of which 4 mutations also affected other organs of the body. Seventy per cent of the mutations caused severe opacity of the lens or lens and cornea. Homologous hereditary diseases in man would be juvenile cataracts with serious impairment of vision or blindness. Expressivity of the lens opacities was almost constant whereas the accompanied defects varied with respect to their severity in different individuals as well as in eyes of an individual. Phenotypic differences dependent on the genetic background could not be observed. Fourteen mutations were classified as mutations with complete penetrance without any effect on viability and fertility of heterozygotes. Four other mutations were shown to be fully penetrant but the viability of the heterozygotes was impaired. Two mutations had incomplete penetrance with no viability or fertility effects. Of the 14 mutations with complete penetrance and normal viability and fertility 6 were shown to be homozygous viable, 1 semi-lethal and 7 lethal.

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30

Kuehn, Hye Sun, Julie E. Niemela, Karthik Sreedhara, Jennifer L. Stoddard, Jennifer Grossman, Christian A. Wysocki, M. Teresa de la Morena, et al. "Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype." Blood 130, no. 13 (September 28, 2017): 1553–64. http://dx.doi.org/10.1182/blood-2017-05-782177.

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Key Points NFKB2 GOF mutations are associated with CID without endocrine or ectodermal manifestations. As most autosomal-dominant primary immunodeficiencies, NFKB2 GOF changes have incomplete penetrance and variable expressivity.

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31

Oleaga-Quintas, Carmen, Edgar Borges de Oliveira-Júnior, Jérémie Rosain, Franck Rapaport, Caroline Deswarte, Antoine Guérin, Sairaj Munavar Sajjath, et al. "Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance." Journal of Clinical Immunology 41, no. 3 (January 8, 2021): 639–57. http://dx.doi.org/10.1007/s10875-020-00930-3.

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32

Papadimitriou, A., V. Veletza, G. M. Hadjigeorgiou, A. Patrikiou, M. Hirano, and I. Anastasopoulos. "Mutated -synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance?" Neurology 52, no. 3 (February 1, 1999): 651. http://dx.doi.org/10.1212/wnl.52.3.651.

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33

Kurban, Mazen, Muhammad Wajid, Lynn Petukhova, Yutaka Shimomura, and Angela M. Christiano. "A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance." Journal of Human Genetics 56, no. 10 (August 4, 2011): 701–6. http://dx.doi.org/10.1038/jhg.2011.84.

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34

Giudicessi, John R., and Michael J. Ackerman. "Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes." Translational Research 161, no. 1 (January 2013): 1–14. http://dx.doi.org/10.1016/j.trsl.2012.08.005.

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35

Fried, K., A. Manor, M. Pajewski, R. Starinsky, and E. Vure. "Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis)." Clinical Genetics 19, no. 4 (April 23, 2008): 271–74. http://dx.doi.org/10.1111/j.1399-0004.1981.tb00708.x.

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36

Ibarra Moreno, Carlos A., Sally Hu, Natalia Kraeva, Frank Schuster, Stephan Johannsen, Henrik Rueffert, Werner Klingler, Luc Heytens, and Sheila Riazi. "An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations." Anesthesiology 131, no. 5 (November 1, 2019): 983–91. http://dx.doi.org/10.1097/aln.0000000000002813.

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Abstract Editor’s Perspective What We Already Know about This Topic What This Article Tells Us That Is New Background Malignant hyperthermia (MH) is a potentially lethal disorder triggered by certain anesthetics. Mutations in the ryanodine receptor 1 (RYR1) gene account for about half of MH cases. Discordance between the low incidence of MH and a high prevalence of mutations has been attributed to incomplete penetrance, which has not been quantified yet. The authors aimed to examine penetrance of MH-diagnostic RYR1 mutations and the likelihood of mutation carriers to develop MH, and to identify factors affecting severity of MH clinical expression. Methods In this multicenter case–control study, data from 125 MH pedigrees between 1994 and 2017 were collected from four European registries and one Canadian registry. Probands (survivors of MH reaction) and their relatives with at least one exposure to anesthetic triggers, carrying one diagnostic RYR1 mutation, were included. Penetrance (percentage of probands among all genotype-positive) and the probability of a mutation carrier to develop MH were obtained. MH onset time and Clinical Grading Scale score were used to assess MH reaction severity. Results The overall penetrance of nine RYR1 diagnostic mutations was 40.6% (93 of 229), without statistical differences among mutations. Likelihood to develop MH on exposure to triggers was 0.25 among all RYR1 mutation carriers, and 0.76 in probands (95% CI of the difference 0.41 to 0.59). Penetrance in males was significantly higher than in females (50% [62 of 124] vs. 29.7% [30 of 101]; P = 0.002). Males had increased odds of developing MH (odds ratio, 2.37; 95% CI, 1.36 to 4.12) despite similar levels of exposure to trigger anesthetics. Proband’s median age was 12 yr (interquartile range 6 to 32.5). Conclusions Nine MH-diagnostic RYR1 mutations have sex-dependent incomplete penetrance, whereas MH clinical expression is influenced by patient’s age and the type of anesthetic. Our quantitative evaluation of MH penetrance reinforces the notion that a previous uneventful anesthetic does not preclude the possibility of developing MH.

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37

Nishino, Jo, and Shuhei Mano. "The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity." Computational and Mathematical Methods in Medicine 2013 (2013): 1–13. http://dx.doi.org/10.1155/2013/179761.

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There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques. Studies generally assume complete or high penetrance. However, there are likely many failed and unpublished studies due in part to incomplete penetrance or phenocopy. In this study, the expected number of candidate single-nucleotide variants (SNVs) in exome data for autosomal dominant or recessive Mendelian disorders was investigated under the assumption of “no genetic heterogeneity.” All variants were assumed to be under the “null model,” and sample allele frequencies were modeled using a standard population genetics theory. To investigate the properties of pedigree data, full-sibs were considered in addition to unrelated individuals. In both cases, particularly regarding full-sibs, the number of SNVs remained very high without controls. The high efficacy of controls was also confirmed. When controls were used with a relatively large total sample size (e.g.,N=20, 50), filtering incorporating of incomplete penetrance and phenocopy efficiently reduced the number of candidate SNVs. This suggests that filtering is useful when an assumption of no “genetic heterogeneity” is appropriate and could provide general guidelines for sample size determination.

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38

Koenighofer, Martin, Thomas Parzefall, Alexandra Frohne, Elisabeth Frei, Christian Schoefer, Franco Laccone, Patricia Feil, Klemens Frei, and Trevor Lucas. "Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma." Clinical Otolaryngology 46, no. 5 (May 5, 2021): 1044–49. http://dx.doi.org/10.1111/coa.13782.

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39

Coll, Monica, Alexandra Pérez-Serra, Jesus Mates, Bernat del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, et al. "Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death." Biology 7, no. 1 (December 26, 2017): 3. http://dx.doi.org/10.3390/biology7010003.

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40

Sucharov, Juliana, Kuval Ray, Elliott P. Brooks, and James T. Nichols. "Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway." PLOS Genetics 15, no. 12 (December 2, 2019): e1008507. http://dx.doi.org/10.1371/journal.pgen.1008507.

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41

Alper, C. A., and Z. Awdeh. "Incomplete penetrance of MHC susceptibility genes: prospective analysis of polygenic MHC-determined traits." Tissue Antigens 56, no. 3 (September 2000): 199–206. http://dx.doi.org/10.1034/j.1399-0039.2000.560301.x.

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42

Fryns, J. P. "Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family." Journal of Medical Genetics 32, no. 4 (April 1, 1995): 326. http://dx.doi.org/10.1136/jmg.32.4.326.

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43

Brugieres, L., G. Pierron, A. Chompret, B. B. d. Paillerets, F. Di Rocco, P. Varlet, A. Pierre-Kahn, O. Caron, J. Grill, and O. Delattre. "Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations." Journal of Medical Genetics 47, no. 2 (October 14, 2009): 142–44. http://dx.doi.org/10.1136/jmg.2009.067751.

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44

Gonzalez, Daniel Ramos, Amaia Caro Aramendia, and Angus Davison. "Recombination within the Cepaea nemoralis supergene is confounded by incomplete penetrance and epistasis." Heredity 123, no. 2 (February 14, 2019): 153–61. http://dx.doi.org/10.1038/s41437-019-0190-6.

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45

Shin, David, Fred Gilbert, Marc Goldstein, and Peter N. Schlegel. "CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS." Journal of Urology 158, no. 5 (November 1997): 1794–99. http://dx.doi.org/10.1016/s0022-5347(01)64131-4.

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46

Beye, Martin, Christine Seelmann, Tanja Gempe, Martin Hasselmann, Xavier Vekemans, M. Kim Fondrk, and Robert E. Page. "Gradual Molecular Evolution of a Sex Determination Switch through Incomplete Penetrance of Femaleness." Current Biology 23, no. 24 (December 2013): 2559–64. http://dx.doi.org/10.1016/j.cub.2013.10.070.

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47

Venturini, Giulia, Anna M. Rose, Amna Z. Shah, Shomi S. Bhattacharya, and Carlo Rivolta. "CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance." PLoS Genetics 8, no. 11 (November 8, 2012): e1003040. http://dx.doi.org/10.1371/journal.pgen.1003040.

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48

Marsh, Ashley P. L., Delphine Heron, Timothy J. Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, et al. "Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance." Nature Genetics 49, no. 4 (February 27, 2017): 511–14. http://dx.doi.org/10.1038/ng.3794.

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Kornman, K. S. "Incomplete penetrance, white space-black space, disease perspective: infectious disease vs. molecular medicine." Journal of Periodontal Research 32, no. 1 (January 1997): 206–8. http://dx.doi.org/10.1111/j.1600-0765.1997.tb01407.x.

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Chapi, Marjan, Hamideh Sabbaghi, Fatemeh Suri, Elham Alehabib, Simin Rahimi-Aliabadi, Faezeh Jamali, Javad Jamshidi, et al. "Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy." Ophthalmic Genetics 40, no. 3 (May 4, 2019): 259–66. http://dx.doi.org/10.1080/13816810.2019.1622023.

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