Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Cited by (314)

Items 101–200 of 314

1. Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
   Julia Wang, Zhandong Liu, Hugo Jozef Bellen, Shinya Yamamoto · 2019 · Journal of Visualized Experiments
2. Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers
   Özgür Genç, Joon‐Yong An, Richard Doty Fetter, Yelena D Kulik, Giulia Zunino, Stephan Sanders, Graeme W. Davis · 2020 · eLife
3. Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses
   Lidia Gaffke, Karolina Pierzynowska, Estera Rintz, Zuzanna Cyske, Izabela Giecewicz, Grzegorz Węgrzyn · 2021 · International Journal of Molecular Sciences
4. The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
   Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Ali Alghamdi, Paul N. Schofield, Robert Hoehndorf · 2025 · Scientific Reports
5. Making psychiatric semiology great again: A semiologic, not nosologic challenge
   Jean‐Arthur Micoulaud‐Franchi, Clélia Quilès, Jean-Marie V. Batail, Christophe Lançon, Marc Masson, Guillaume Dumas, Michel Cermolacce · 2018 · L Encéphale
6. The Impact of Environmental Factors on Monogenic Mendelian Diseases
   Anke M. Tukker, Charmaine D. M. Royal, Aaron B. Bowman, Kimberly A. McAllister · 2021 · Toxicological Sciences
7. MED13 and Glycolysis Are Conserved Modifiers of α-Synuclein-Associated Neurodegeneration
   Mengda Ren, Ying Yang, Kelsey Hwee Yee Heng, Lu Yi Ng, Claris Yuin-Yi Chong, Yan Ting Ng, Srinivas Gorur-Shandilya, Rachel Min Qi Lee, Kah Leong Lim, Jing Zhang et al. · 2022 · Cell Reports
8. Non-Coding Loss-of-Function Variation in Human Genomes
   Zachary Zappala, Stephen B. Montgomery · 2016 · Human Heredity
9. Update on Whole-Body MRI Surveillance for Pediatric Cancer Predisposition Syndromes
   Mary‐Louise C. Greer, Lisa J. States, David M. Malkin, Stephan D. Voss, Andrea Schwarz Doria · 2024 · Clinical Cancer Research
10. Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway
    Juliana Sucharov, K. Ray, Elliott P. Brooks, J. Nichols · 2019 · PLoS Genetics
11. How to Define Pathogenicity, Health, and Disease?
    Mauno Vihinen · 2016 · Human Mutation
12. Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders
    Ariel Feiglin, Bryce K. Allen, Isaac S. Kohane, Sek Won Kong · 2017 · Cell Systems
13. Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives
    Tarailo-Graovac, Maja, Wasserman, Wyeth W., Van Karnebeek, Clara D. M. · 2017 · Expert Review of Molecular Diagnostics
14. Precision oncology: lessons learned and challenges for the future
    Hsih‐Te Yang, Ronak H. Shah, David H. Tegay, Kenan Onel · 2019 · Cancer Management and Research
15. A Bayesian method to estimate variant-induced disease penetrance
    Brett M. Kroncke, Derek K. Smith, Yi Zuo, Andrew Michael Glazer, Dan M. Roden, Jeffrey D. Blume · 2020 · PLoS Genetics
16. Loss-of-function mutation survey revealed that genes with background-dependent fitness are rare and functionally related in yeast
    Élodie Caudal, Anne Friedrich, Arthur Jallet, Marion Garin, Jing Hou, Joseph Schacherer · 2022 · Proceedings of the National Academy of Sciences
17. Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model
    Laura Tomás‐Roca, Zhen Qiu, Erik A. Fransén, Ragini Gokhale, Edita Bulovaite, David Jonathan Price, Noboru H. Komiyama, Seth G. N. Grant · 2022 · Nature Communications
18. Widespread epistasis among beneficial genetic variants revealed by high-throughput genome editing
    Roy Moh Lik Ang, Shi-An A. Chen, Alexander Kern, Yihua Xie, Hunter B. Fraser · 2023 · Cell Genomics
19. Policy Making in Newborn Screening Needs a Structured and Transparent Approach
    Marleen Elizabeth Jansen, Karla J. Lister, Henk J. van Kranen, Martina Cornelia Cornel · 2017 · Frontiers in Public Health
20. How Surrogate and Chemical Genetics in Model Organisms Can Suggest Therapies for Human Genetic Diseases
    Katherine A Strynatka, Michelle C Gurrola-Gal, Jason N. Berman, Christopher R. McMaster · 2018 · Genetics
21. Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
    Julie Richer, Anne‐Marie Laberge · 2018 · Genetics in Medicine
22. Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
    Arash Najafi, Sylvan M. Caspar, Janine Meienberg, Marianne Rohrbach, Beat U. Steinmann, Gábor Mátyás · 2019 · Clinical Genetics
23. A closer look at expanded carrier screening from a PGD perspective
    Carolina Vaz-de-Macedo, Joyce Catherine Harper · 2017 · Human Reproduction
24. Beyond quantitative and qualitative traits: three telling cases in the life sciences
    Davide Serpico · 2020 · Biology & Philosophy
25. How do non-geneticist physicians deal with genetic tests? A qualitative analysis
    Laurent Pasquier, Guy Minguet, Sylvie Moisdon-Chataigner, Pascal Jarno, Philippe Denizeau, Ginette Volf, Sylvie Odent, Grégoire Moutel · 2021 · European Journal of Human Genetics
26. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis
    David R. Blair, Thomas J. Hoffmann, Joseph T.C. Shieh · 2022 · Nature Communications
27. Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis
    Elizabeth Blue, Tin L. Louie, Jessica X. Chong, Scott Joseph Hebbring, Kathleen C. Barnes, Nicholas M. Rafaels, Michael R. Knowles, Ronald L. Gibson, Michael J. Bamshad, Mary Jane Emond · 2018 · Annals of the American Thoracic Society
28. Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity
    Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Nafi Dilaver, Masoud Tajamolian, Samaneh Enayati, Pirooz Ebrahimi, Mahsa Mohammad Amoli, I. Sadaf Farooqi, Reza Maroofian · 2018 · European Journal of Medical Genetics
29. A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans
    Astrid Hagelkrüys, Gerald Wirnsberger, Johannes Stadlmann, Miriam Wöhner, Marion Horrer, Bojan Vilagos, Gustav Jonsson, Melanie Kögler, Luigi Tortola, Maria Novatchkova et al. · 2020 · The Journal of Experimental Medicine
30. Canine NAPEPLD-associated models of human myelin disorders
    Katie M. Minor, Anna Letko, Doreen Becker, Michaela Drögemüller, Paul J. J. Mandigers, Sophie Bellekom, Peter A. J. Leegwater, Quirine E. M. Stassen, K. Putschbach, Andrea Fischer et al. · 2018 · Scientific Reports
31. Genetic suppression features ABHD18 as a Barth syndrome therapeutic target
    Sanna N. Masud, Anchal Srivastava, P. Mero, Victoria Saba Echezarreta, Eve Anderson, Lennard van Buren, Jiarun Wei, David Taylor, Adrian Granda Farias, N. Mikolajewicz et al. · 2025 · Nature
32. The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations
    Maria Felicia Basilicata, Claudia Isabelle Keller Valsecchi · 2021 · PLoS Genetics
33. Epistemological Pitfalls in the Proxy Theory of Race: The Case of Genomics-Based Medicine
    J. Malinowska, D. Serpico · 2023 · British Journal for the Philosophy of Science
34. Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues
    Graziela de Sá Machado Araújo, R. da Silva Francisco, Cristina dos Santos Ferreira, Pedro Thyago Mozer Rodrigues, Douglas Terra Machado, Thais Louvain de Souza, Jozimara Teixeira de Souza, Cleiton Figueiredo Osorio da Silva, A. F. Alves da Silva, C. C. F. Andrade et al. · 2018 · Frontiers in Genetics
35. Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
    David J. Green, Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, Panagiotis I. Sergouniotis · 2020 · Genes
36. Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome
    Rosario Ferrer‐Avargues, M.I. Castillejo, Estela Dámaso, Virginia Díez‐Obrero, Noemí Garrigós, Tatiana Molina, Alan Codoñer‐Alejos, Ángel Segura, Ana Beatriz Sánchez‐Heras, Adela Castillejo et al. · 2021 · 癌症：英文版
37. Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors
    Hui Liu, Mohammad Dehestani, Cornelis Blauwendraat, Mary B. Makarious, Hampton L. Leonard, Jonggeol Jeffrey Kim, Claudia Schulte, Alastair John Noyce, Benjamin M. Jacobs, Isabelle Francesca Foote et al. · 2022 · Annals of Neurology
38. Pathogenic variants in the healthy elderly: unique ethical and practical challenges
    Paul A Lacaze, Joanne L. Ryan, Robyn L. Woods, Ingrid Winship, John J. McNeil · 2017 · Journal of Medical Ethics
39. Modifier genes: Moving from pathogenesis to therapy
    Edward R.B. McCabe · 2017 · Molecular Genetics and Metabolism
40. Developmental processes regulate craniofacial variation in disease and evolution
    Fjodor Merkuri, Jennifer L. Fish · 2018 · genesis
41. Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel
    Dusan Bogunovic · 2025 · Journal of Human Immunity
42. Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
    Thaís Louvain de Souza, Regina Célia de Souza Campos Fernandes, Juliana Azevedo da Silva, Vladimir Gomes Alves Júnior, Adelia Gomes Coelho, Afonso C. Souza Faria, Nábia Maria M. S. Simão, João Tadeu Damian Souto Filho, Caroline Deswarte, Stéphanie Boisson‐Dupuis et al. · 2017 · Frontiers in Microbiology
43. HDAC4 mutations cause diabetes and induce β‐cell FoxO1 nuclear exclusion
    Maolian Gong, Yong Yu, Lei Liang, Doğuş Vurallı, Sebastian Froehler, Peter Kühnen, Philipp Du Bois, Jingjing Zhang, Aidi Cao, Yuan-Tao Liu et al. · 2019 · Molecular Genetics & Genomic Medicine
44. Searching for secondary findings: considering actionability and preserving the right not to know
    Bertrand Isidor, Sophie Julia, Pascale Saugier-Véber, Paul‐Loup Weil‐Dubuc, Stéphane Bezieau, Éric Bieth, Jean‐Paul Bonnefont, Arnold Münnich, Franck Bourdeaut, Catherine Bourgain et al. · 2019 · European Journal of Human Genetics
45. Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance
    Robert P. Adelson, Alan Edward Renton, Wentian Li, Nir Barzilai, Gil Atzmon, Alison Goate, Peter Davies, Yun Freudenberg‐Hua · 2019 · Scientific Reports
46. From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease
    Andy Golden · 2017 · Molecular Reproduction and Development
47. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD
    Joël Zlotogora, George P. Patrinos, Vardiella Meiner · 2017 · Genetics in Medicine
48. Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine
    Rina Kansal · 2025 · Children
49. Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes
    Kemal Keseroǧlu, Oriana Q. H. Zinani, Sevdenur Keskin, Hannah Seawall, Eslim E. Alpay, Ertuğrul M. Özbudak · 2023 · Nature Communications
50. Genetic suppression: Extending our knowledge from lab experiments to natural populations
    Takeshi Matsui, Jonathan T. Lee, Ian M. Ehrenreich · 2017 · BioEssays
51. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum
    Qiaoli Li, Vivek M. Philip, Timothy M. Stearns, Jason A. Bubier, Benjamin L. King, Benjamin E. Low, Michael V. Wiles, Amir Hossein Saeidian, Beth A. Sundberg, Jouni Uitto et al. · 2019 · Journal of Investigative Dermatology
52. Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort
    Jennifer Reiner, Lynne S. Rosenblum, Winnie W. Xin, Zhaoqing Zhou, Hui Zhu, Natalia Tszine Leach · 2022 · Genetics in Medicine
53. Matrix metalloproteinase-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice
    Vitali Y. Lounev, Jay Clemens Groppe, Niambi S. Brewer, Kelly Lee Wentworth, Victoria Smith, Meiqi Xu, Lutz Schomburg, Pankaj Bhargava, Mona Al Mukaddam, Edward Chiaming Hsiao et al. · 2024 · Journal of Bone and Mineral Research
54. Comprehensive functional genomics using Caenorhabditis elegans as a model organism
    Shohei Mitani · 2017 · Proceedings of the Japan Academy Series B
55. Evidence for penetrance in patients without a family history of disease: a systematic review
    Heather Turner, Leigh M. Jackson · 2020 · European Journal of Human Genetics
56. The complex role of genetic background in shaping the effects of spontaneous and induced mutations
    Ilan Goldstein, Ian M. Ehrenreich · 2020 · Yeast
57. Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes
    Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn · 2022 · Genes
58. Using Stem Cell Models to Explore the Genetics Underlying Psychiatric Disorders: Linking Risk Variants, Genes, and Biology in Brain Disease
    Kristen Brennand · 2022 · American Journal of Psychiatry
59. Variable paralog expression underlies phenotype variation
    Raisa Bailon‐Zambrano, Juliana Sucharov, Abigail Mumme‐Monheit, Matthew Murry, Amanda Stenzel, Anthony T. Pulvino, Jennyfer M. Mitchell, Kathryn L. Colborn, James T. Nichols · 2022 · eLife
60. Scientific opportunities in resilience research for cardiovascular health and wellness. Report from a National Heart, Lung, and Blood Institute workshop
    Herman A. Taylor, Toren Finkel, Yunling Gao, Scott W. Ballinger, Rebecca Campo, Rong Chen, Shu Hui Chen, Karina W. Davidson, M. Luisa Iruela‐Arispe, Cashell E. Jaquish et al. · 2022 · The FASEB Journal
61. APOB‐associated cholesterol deficiency in Holstein cattle is not a simple recessive disease
    Irene M. Häfliger, Sonja Hofstetter, Thomas Mock, Manuela Hanna Stettler, Mireille Meylan, Kemal Mehinagic, Nadine Stokar‐Regenscheit, Cord Drögemüller · 2019 · Animal Genetics
62. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs
    Kati Dillard, Matthias Ochs, Julia E. Niskanen, Meharji Arumilli, Jonas Donner, Kaisa Kyöstilä, Marjo K. Hytönen, Marjukka O. Anttila, Hannes Lohi · 2020 · PLoS Genetics
63. Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease
    Christoph Feinauer, Martin Weigt · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
64. Public Health Genomics: the essential part for good governance in public health
    Angela M. Brand, Nikolaos G. Evangelatos, Kapaettu Satyamoorthy · 2016 · International Journal of Public Health
65. A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity
    Peng Zhang, Aurélie Cobat, Yoon Seung Lee, Yiming Wu, Çiğdem Sevim Bayrak, Clémentine Boccon‐Gibod, Daniela Matuozzo, Lazaro Lorenzo, Aayushee Jain, Soraya Boucherit et al. · 2021 · The American Journal of Human Genetics
66. Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation
    Mohamed A. El-Brolosy, A. Oak, Ho-Ang An, Yassine Damergi, André Fischer, R. Saunders, Jing-Chuan Luo, Amer Balabaki, J. Guez, Troy W. Whitfield et al. · 2026 · Science
67. Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
    Christopher J. Derrick, Emmanuelle Szenker‐Ravi, Adrián Santos‐Ledo, Ahlam Alqahtani, Amirah Yusof, Lorraine Eley, Alistair H L Coleman, Sumanty Tohari, Alvin Yu Jin Ng, Byrappa Venkatesh et al. · 2023 · Human Molecular Genetics
68. Structural and functional impact of SNPs in P-selectin gene: A comprehensive in silico analysis
    Raminderjit Kaur, Jatinder Singh, Manpreet Kaur · 2017 · Open Life Sciences
69. Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
    Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
70. The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18
    Jannine DeMars Cody · 2020 · Trends in Genetics
71. Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns
    Nina B. Gold, Steven M. Harrison, Jared H. Rowe, Jessica I. Gold, Elissa Furutani, Alessandra Biffi, Christine Duncan, Akiko Shimamura, Leslie Lehmann, Robert C. Green · 2021 · Human Genetics and Genomics Advances
72. DASH, the data and specimen hub of the National Institute of Child Health and Human Development
    Rohan Hazra, Susan Tenney, Alexandra Shlionskaya, Rajni Samavedam, Kristin Kathleen Baxter, John V. Ilekis, Jennifer Weck, Marian Willinger, Gilman D. Grave, Katerina Tsilou et al. · 2018 · Scientific Data
73. Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity
    Meihang Li, Natalija Popović, Ying Wang, Chunbo Chen, Constantin Polychronakos · 2023 · Reviews in Endocrine and Metabolic Disorders
74. Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
    Polakit Teekakirikul, Wenjuan Zhu, Xinxiu Xu, Cullen B. Young, Tuantuan Tan, Amanda M. Smith, Chengdong Wang, Kevin A. Peterson, George C. Gabriel, Sebastian Ho et al. · 2022 · Cell Reports Medicine
75. Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
    Hagit Daum, Vardiella Meiner, Rachel Michaelson‐Cohen, Rivka Sukenik Halevy, Michal Levy Zalcberg, Anat Bar-Ziv, A. Tzvi Weiden, Sholem Y. Scher, Mordechai Shohat, Joël Zlotogora · 2020 · European Journal of Human Genetics
76. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
    Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian Thomas Thiel, Nadine H Hauer, Ralph Roeth, Birgit Weiß, Yasuhiro Naiki, Tsutomu Ogata, David Hassel et al. · 2018 · European Journal of Human Genetics
77. Genome sequencing in a case of Niemann–Pick type C
    Max L. Dougherty, John E. Lazar, Jason C. Klein, Karina Diaz, Theodore A. Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel J. P. Lawrence, Megan M. Maurano, Maria T. Nelson et al. · 2016 · Molecular Case Studies
78. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
    Jonah E. Einson, Dafni A. Glinos, Eric Boerwinkle, Peter J. Castaldi, Dawood Darbar, Mariza de Andrade, Patrick T. Ellinor, Myriam Fornage, Stacey Gabriel, Søren Germer et al. · 2023 · Genetics
79. The Developmental Basis for Evolvability
    Benedikt Hallgrímsson, Jose David Aponte, Marta Vidal‐García, Heather Ashley Richbourg, Rebecca M. Green, Nathan M. Young, James M. Cheverud, Anne L. Calof, Arthur D. Lander, Ralph Marcucio · 2023 · The MIT Press eBooks
80. Decoding ‘Unnecessary Complexity’: A Law of Complexity and a Concept of Hidden Variation Behind “Missing Heritability” in Precision Medicine
    Rama Shankar Singh · 2021 · Journal of Molecular Evolution
81. Unequal global implementation of genomic newborn screening
    Ahmad N. Abou Tayoun · 2023 · Nature Reviews Genetics
82. The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases
    Noam Auslander, Daniel M. Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A. Schäffer, Charlotte J. Sumner, Eytan Ruppin · 2020 · Molecular Systems Biology
83. Clinical challenges in interpreting multiple pathogenic mutations in single patients
    Christa Slaught, Elizabeth Berry, Lindsay Bacik, Alison H. Skalet, George Anadiotis, Thérèse M.F. Tuohy, Sancy Ann Leachman · 2021 · Hereditary Cancer in Clinical Practice
84. Insights into the genetic architecture of congenital heart disease from animal modeling
    Wenjuan Zhu, Cecilia W. Y. Lo, Cecilia W. Lo, 匹茨堡大学发育生物学系, 宾夕法尼亚 匹茨堡15201, 美国 · 2023 · 动物学研究
85. Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
    Nicole Yanjanin Farhat, Derek M. Alexander, K. McKee, James Iben, Jorge L. Rodriguez‐Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter · 2024 · International Journal of Molecular Sciences
86. Accurately annotate compound effects of genetic variants using a context-sensitive framework
    Sijin Cheng, Fangyuan Shi, Huan Liu, Yang Ding, Shuai Jiang, Nan Liang, Ge Gao · 2017 · Nucleic Acids Research
87. An unbiased index to quantify participant’s phenotypic contribution to an open-access cohort
    Yingleong Chan, Michael Tung, Alexander S. Garruss, Sarah Wait Zaranek, Ying Chan, Jeantine E. Lunshof, Alexander Wait Zaranek, Mad Price Ball, Michael F. Chou, Elaine T. Lim et al. · 2017 · Scientific Reports
88. Genetic basis of a spontaneous mutation’s expressivity
    Rachel Schell, Joseph J Hale, Martin N. Mullis, Takeshi Matsui, Ryan Foree, Ian M. Ehrenreich · 2022 · Genetics
89. Resurrection from lethal knockouts: Bypass of gene essentiality
    Li‐Lin Du · 2020 · Biochemical and Biophysical Research Communications
90. Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias
    Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Raković, Ingrid Brænne, Anne Weißbach, Jennie Hampf, Eva‐Juliane Vollstedt, Leopold Größer, Susen Schaake et al. · 2017 · Genes
91. Beyond Mendel: a call to revisit the genotype–phenotype map through new experimental paradigms
    Diethard Tautz, Luisa F. Pallares, Leif Andersson, Neda Barghi, Nick Barton, Rachael A. Bay, Yingguang Frank Chan, Angela M. Hancock, Tobias S. Kaiser, Daniel Koenig et al. · 2026 · Genetics
92. Chargaff’s second parity rule lies at the origin of additive genetic interactions in quantitative traits to make omnigenic selection possible
    Bakhyt T. Matkarimov, Murat K. Saparbaev · 2023 · PeerJ
93. Potential and pitfalls in the genetic diagnosis of kidney diseases
    Anne Kesselheim, Emma Ashton, Detlef Böckenhauer · 2017 · Clinical Kidney Journal
94. Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice
    Thomas J. Sproule, Vivek M. Philip, Nabig A. Chaudhry, Derry C. Roopenian, John P. Sundberg · 2023 · PLoS ONE
95. A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity
    Yonatan Butbul Aviel, Ayala Ofir, Ofer Ben‐Izhak, Euvgeni Vlodavsky, Netanel Karbian, Riva Brik, Dror Mevorach, Daniella Magen · 2021 · Lara D. Veeken
96. Global genetic interaction network of a human cell maps conserved principles and informs functional interpretation of gene co-essentiality profiles
    Maximilian Billmann, Michael Costanzo, Xiang Zhang, Arshia Zernab Hassan, Mahfuzur Rahman, Kevin R. Brown, Katherine S. Chan, Amy H.Y. Tong, Carles Pons, Henry N. Ward et al. · 2026 · Cell
97. Digital Transformation in Health Care and Its Marketing Dimension
    Iwona Czerska · 2023 · Marketing of Scientific and Research Organizations
98. Clinical genomics and precision medicine
    S. D. Pena, Eduardo Tarazona-Santos · 2022 · Genetics and Molecular Biology
99. Superheroes of disease resistance
    Daniel G. MacArthur · 2016 · Nature Biotechnology
100. Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm
     Sijie He, Weiwei Chen, Han-Kui Liu, Sheng-Ting Li, Dong-Zhu Lei, Xiao Dang, Yulan Chen, Xiu-Qing Zhang, Jian-Guo Zhang · 2019 · Human Genetics