Cited by 643Genomics and Rare DiseasesGenetic Associations and EpidemiologyConnective tissue disorders research

The DOI matches its Crossref record; 104 of the 107 references it cites were found in a registry or an index.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Open access

Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.·2015·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2015.06.009PMC PMC4573249

Open this paper in CoChat — free account Open PDF

Abstract

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function, gene regulation, development, and biological mechanisms that can be used for developing new therapeutics. As of February 2015, 2,937 genes underlying 4,163 Mendelian phenotypes have been discovered, but the genes underlying ∼50% (i.e., 3,152) of all known Mendelian phenotypes are still unknown, and many more Mendelian conditions have yet to be recognized. This is a formidable gap in biomedical knowledge. Accordingly, in December 2011, the NIH established the Centers for Mendelian Genomics (CMGs) to provide the collaborative framework and infrastructure necessary for undertaking large-scale whole-exome sequencing and discovery of the genetic variants responsible for Mendelian phenotypes. In partnership with 529 investigators from 261 institutions in 36 countries, the CMGs assessed 18,863 samples from 8,838 families representing 579 known and 470 novel Mendelian phenotypes as of January 2015. This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype. These results provide insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelian phenotypes. Discovering the gene underlying every Mendelian phenotype will require tackling challenges such as worldwide ascertainment and phenotypic characterization of families affected by Mendelian conditions, improvement in sequencing and analytical techniques, and pervasive sharing of phenotypic and genomic data among researchers, clinicians, and families.

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2015.06.009

Cites

104 of 104 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

The text we found for this paper looks like another document, so its claims and self-check weren’t run. The registry and citation checks still apply.

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The text we found for this paper looks like another document, so the self-check wasn’t run.

Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Self-citation
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium (2002) · Nature · doi:10.1038/nature01262 · Cited by 7,187
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183
Self-citation
A New Initiative on Precision Medicine
Collins, F. S., & Varmus, H. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1500523 · Cited by 5,202
Update on Key Emerging Challenges in Cystic Fibrosis
Jennings, M. T., Riekert, K. A., & Boyle, M. (2014) · Medical Principles and Practice · doi:10.1159/000357646 · Cited by 3,671
Genomic responses in mouse models poorly mimic human inflammatory diseases
Seok, J., Warren, H. S., Cuenca, A. G., Mindrinos, M. N., Baker, H. V., Xu, W., Richards, D. R., McDonald-Smith, G. P., Gao, H., Hennessy, L., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222878110 · Cited by 3,005
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Self-citation
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1205 · Cited by 2,691
Self-citation
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Self-citation

Show all 107 references

Sorted by citations

Items 501–600 of 643

Epidemiological Investigation on the Clinical Status of the Developmental Dyslexia and ADHD Comorbidity among School-Age Children in Pakistan
Haider, S., Mondal, T., Loffredo, C. A., Korba, B. A., Nawaz, I., Azam, M., Sur, T. K., & Ghosh, S. (2025) · Open Journal of Epidemiology · doi:10.4236/ojepi.2025.153033 · Cited by 1
Rationaler Einsatz genetischer Tests in der Inneren Medizin
Elbracht, M., Meyer, R., Eggermann, T., & Kurth, I. (2018) · Der Internist · doi:10.1007/s00108-018-0457-7 · Cited by 1
Hoofbeats, horses, and genetic red flags
Weiler, T., Chakravarty, T., & Landa-Galindez, A. (2019) · Medical Teacher · doi:10.1080/0142159x.2018.1533244 · Cited by 1
Exomdiagnostik in der Neurologie
Zech, M., Wagner, M., Schormair, B., Oexle, K., & Winkelmann, J. (2019) · Der Nervenarzt · doi:10.1007/s00115-018-0667-1 · Cited by 1
Network medicine-travelling with the insulin receptor: Encounter of the second type
Boutchueng-Djidjou, M., & Faure, R. L. (2019) · EClinicalMedicine · doi:10.1016/j.eclinm.2019.07.007 · Cited by 1
Nutritionist Guide to Direct-to-Consumer Genetic Tests and Precision Nutrition
Dashti, H. S., & Tucker, C. (2019) · Nutrition Today · doi:10.1097/nt.0000000000000360 · Cited by 1
Understanding Neurodegeneration and Neuroprotection Through Genetic Screens in Drosophila
Mandya, A. S., Cheramangalam, R. N., & Jaiswal, M. (2019) · Springer eBooks · doi:10.1007/978-981-13-2218-1_3 · Cited by 1
Utility of the “omics” in kidney disease: Methods of analysis, sampling considerations, and technical approaches in renal biomarkers
Moreno, V. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-815923-1.00002-x · Cited by 1
Genetic Association Studies of Age-Related Traits: New Perspectives
Kulminski, A. M. (2020) · Advances in Geriatric Medicine and Research · doi:10.20900/agmr20210003 · Cited by 1
Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy
Jiang, H., Guo, C., Xie, J., Pan, J., Huang, Y., Li, M., & Guo, Y. (2021) · BMC Neurology · doi:10.1186/s12883-021-02093-z · Cited by 1
Genetics of age-related macular degeneration
Li, W. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-822061-0.00001-3 · Cited by 1
Phenotypic variability and modifier variants in children with hereditary heart diseases
Щербакова, Н. В., Zhironkina, A. B., Voinova, V. Y., Абдул-Гафуровна, И. Р., & Shkolnikova, M. A. (2021) · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · doi:10.21508/1027-4065-2021-66-3-12-19 · Cited by 1
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene
Akerman, İ., Maestro, M. A., De Franco, E., Grau, V., Flanagan, S. E., García-Hurtado, J., Mittler, G., Ravassard, P., Piemonti, L., Ellard, S., et al. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.2.12 · Cited by 1
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Spillmann, R. C., Tan, Q. K. ‐., Reuter, C. M., Schoch, K., Kohler, J. N., Bonner, D. E., Zastrow, D. B., Alkelai, A., Baugh, E. H., Cope, H., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.12.001 · Cited by 2
Self-citation
Human Genetics of GnRH Neuron Function
Topaloglu, A. K., & Kotan, L. D. (2018) · Wiley eBooks · doi:10.1002/9781119233275.ch17 · Cited by 1
Functional Interpretation of Genetic Variants Using Deep Learning Predicts Impact on EpigenomePreprint
Hoffman, G. E., Schadt, E. E., & Roussos, P. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/389056 · Cited by 1
Detection of rare disease-related genetic variants using the birthday modelPreprint
Berstein, Y., McCarthy, S., Kramer, M., & McCombie, W. R. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/464842 · Cited by 1
EXPLAINING RARE MENDELIAN PHENOTYPES: EXOME SEQUENCING AND FUNCTIONAL ANALYSIS OF SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Jurgens, J. A. (2017) · Cited by 1
Genome sequencing as a first-line diagnostic test for hospitalized newbornsPreprint
Bowling, K. M., Thompson, M. L., Finnila, C. R., Hiatt, S. M., Latner, D. R., Amaral, M. D., Lawlor, J. M. J., East, K. M., Cochran, M. E., Greve, V., et al. (2021) · medRxiv · doi:10.1101/2021.08.31.21262633 · Cited by 1
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant SplicingPreprint
Kurosawa, R., Iida, K., Ajiro, M., Awaya, T., Yamada, M., Kosaki, K., & Hagiwara, M. (2023) · medRxiv · doi:10.1101/2023.03.20.23287464 · Cited by 1
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead
Pratt, V. M., Akhavanfard, S., Houldsworth, J., Laffin, J. J. S., Moyer, A. M., Reddi, H. V., Scott, S. A., Lebo, M. S., Lebo, M. S., Akhavanfard, S., et al. (2024) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2024.06.013 · Cited by 1
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Chong, J. X., Yu, J., Lorentzen, P., Park, K. M., Jamal, S. M., Tabor, H. K., Rauch, A. M., Saenz, M. S., Boltshauser, E., Patterson, K., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.161 · Cited by 106
Self-citation
METHOD Open Access
Maretty, L., Sibbesen, J. A., & Krogh, A. (2014)
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathyPreprint
Chong, J. X., Caputo, V., Phelps, I. G., Stella, L., Worgan, L. C., Dempsey, J. C., Nguyen, A., Leuzzi, V., Webster, R., Pizzuti, A., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/036111
Self-citation
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Running title: Mendelian gene discovery by social networking
Chong, J. X., Yu, J., Lorentzen, P., Park, K. M., Jamal, S. M., Tabor, H. K., Rauch, A. M., Boltshauser, E., Patterson, K., Nickerson, D. A., et al. (2015)
Self-citation
Estudo genético Mendeliano e imunológico de pacientes pediátricos com alteração na produção de anticorpos.
Errante, P. R. (2016) · UNILUS Ensino e Pesquisa
Gene Discovery in Mendelian and Complex Diseases
Farhan, S. M. K. (2016) · Scholarship@Western (Western University)
A RaDiCAL gene hunt
Pupavac, M., Zawati, M. H., & Rosenblatt, D. S. (2017) · Journal of Taibah University Medical Sciences · doi:10.1016/j.jtumed.2016.11.007
Gene Discovery in Lethal Foetal Disorders
Filges, I. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0026660
Novel brain white matter disorders and their genetic causes
Kevelam, S. H. (2016) · Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam)
Genetische Diagnostik seltener Erkrankungen
Köhler, S., & Robinson, P. N. (2017) · Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz · doi:10.1007/s00103-017-2538-5
Analysis of the relationship between functional divergence and the propensity of duplicated genes to be involved in human Mendelian diseases
Radan, K. (2017) · Saint Mary's University Institutional Repository (Saint Mary's University)
So Long, and Thanks for All the Genes!
Nelson, D. L. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.11.012
Grundlagen der Genetik
Itin, P. H. (2018) · Springer eBooks · doi:10.1007/978-3-662-49544-5_3
Aplicabilidade clínica da técnica de sequenciamento de nova geração com enfoque em displasias esqueléticas
Yamamoto, G. L. (2017) · doi:10.11606/t.5.2017.tde-18122017-091713
The importance of studying oral and craniofacial manifestations of Mendelian phenotypes
Atkinson, J. (2018) · Oral Diseases · doi:10.1111/odi.12750
Identification of Pre-eclampsia susceptibility genes
Gokhale-Agashe, D. (2018) · UWA Profiles and Research Repository (UWA) · doi:10.4225/23/5abc48e7391bc
Génétique médicale: Conséquences du diagnostic génétique «next generation»
Bachmann‐Gagescu, R. (2018) · Forum Médical Suisse ‒ Swiss Medical Forum · doi:10.4414/fms.2018.03122
Diagnostic Testing in Epilepsy Genetics Clinical Practice
Tumiene, B., Utkus, A., Kučinskas, V., Maver, A., & Peterlin, B. (2018) · InTech eBooks · doi:10.5772/intechopen.69930
Human Genomics in Immunology
Nussbaum, R. L., & Puck, J. M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-7020-6896-6.00033-8
A Multiplexed Assay for Exon Recognition Reveals That an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Disruptions to SplicingPreprint
Cheung, R., Insigne, K. D., Yao, D., Burghard, C. P., Jones, E. M., Goodman, D. B., & Kosuri, S. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3188378
Which came first: validity or clinical testing? The example of long QT genes
Boshe, L., Foreman, A. K. M., Goldstein, J., Strande, N. T., Berg, J. S., & O’Daniel, J. M. (2018) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2018.18
Coevolution of Mathematics, Statistics, and Genetics
Yoo, Y. J. (2018) · Springer eBooks · doi:10.1007/978-3-319-70658-0_28-1
Development of novel analysis and data integration systems to understand human gene regulation
Rahman, R.-U. (2018) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-6924
Estudo genético-clínico das displasias esqueléticas, com enfoque nas osteocondrodisplasias com acometimento do esqueleto axial, associado ao envolvimento epifisário e/ou metafisário
Baratela, W. A. D. R. (2018) · doi:10.11606/t.5.2018.tde-02072018-120400
Clinical Genetic Testing and Counseling in Psychiatry
Bouwkamp, C. G., Afawi, Z., & Kushner, S. A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813335-4.00011-8
Systems Biology Perspectives for Studying Neurodevelopmental Events
Mathieux, E., & Mendoza-Parra, M. A. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.85072
Rationaler Einsatz genetischer Tests in der Inneren Medizin: Möglichkeiten und Limitationen der Next-generation-sequencing-Diagnostik
Elbracht, M., Meyer, R., Eggermann, T., & Kurth, I. (2018) · RWTH Publications (RWTH Aachen)
Investigação por sequenciamento do exoma completo da etiologia genética da deficiência intelectual familial
da Costa, S. S. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2019.tde-18022019-173017
Semantic Prioritization of Novel Causative Genomic Variants in Mendelian and Oligogenic Diseases
Boudellioua, I. (2019) · King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) · doi:10.25781/kaust-y5g20
Técnicas de análise genômica permitem estabelecer o diagnóstico etiológico de crianças com baixa estatura de causa desconhecida
Homma, T. K. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2019.tde-22082019-115646
Genetic Architecture, Pathophysiology, and Clinical Management of Brugada Syndrome
Giudicessi, J., & Ackerman, M. (2019) · Cardiac Repolarization · doi:10.1007/978-3-030-22672-5_17
Future Preventive Gene Therapy of Polygenic Diseases from a Population Genetics PerspectivePreprint
Oliynyk, R. T. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/770396
Estudo clínico e molecular de pacientes com síndrome de Noonan e síndromes relacionadas à síndrome de Noonan pelo sequenciamento de nova geração
de Moraes, M. B. (2019) · doi:10.11606/t.5.2019.tde-25102019-163119
Genetics of Infection in Sub-Saharan Africa
Newport, M. J. (2019) · Cambridge University Press eBooks · doi:10.1017/9781139680295.005
Frontiers in Precision Medicine IV: Artificial Intelligence, Assembling Large Cohorts, and the Population Data RevolutionPreprint
Bress, A. P., Albrechtsen, R., Baker, M. J., Contreras, J. L., Fica, Z., Gamblin, A. S., Ratcliff, C. L., Rich, B. E., Szaniawski, M. A., Thorman, A., et al. (2019) · SSRN Electronic Journal · doi:10.2139/ssrn.3491307
Sequenciamento de nova geração e sua aplicação no estudo genético da síndrome de Waardenburg
Bertani‐Torres, W. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2020.tde-13022020-114854
Four Novel Gene Polymorphisms Cause Nuclear Age Related Cataract in Chinese PeoplePreprint
Wang, L., Zhao, W., Yu, Y., & Liu, P. (2021) · Research Square · doi:10.21203/rs.3.rs-219650/v1
Bases genéticas dos defeitos de segmentação vertebral: estudo genético-clínico focado em pacientes com disostose espondilocostal
Girardi, R. M. D. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2021.tde-20052021-111343
I diversi profili del diritto di proprietà nel XXI secolo : brevi spunti di riflessione
Sillani, C. T. (2013) · Rassegna di diritto civile
Multilocus inheritance and variable disease expressivity in rare disease
Posey, J. (2021) · Genomics of Rare Diseases · doi:10.1016/b978-0-12-820140-4.00005-3
Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing
McNulty, S. M., Cole, Y., Powell, B. C., & Rentas, S. (2021) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2021.07.001
Estudo genômico de indivíduos com deficiência congênita de membros
Rocha, L. A. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2021.tde-28092021-084647
Causes of Rural-Urban Migration and Its Effect on Quality of Life
Rehman, R. (2021) · ILMA Journal of Social Sciences & Economics · doi:10.46745/ilma.ijsse.2021.01.01.03
4. Themenbereich genetische Diagnostik: Das humane Genom in der medizinischen Diagnostik
Mundlos, S. (2021) · Nomos Verlagsgesellschaft mbH & Co. KG eBooks · doi:10.5771/9783748927242-114
Variant-level Matching ToolsPreprint
Rodrigues, E. D. S., Griffith, S., Martin, R. P., Antonescu, C. M., Posey, J. E., Coban‐Akdemir, Z., Jhangiani, S. N., Doheny, K. F., Lupski, J. R., Valle, D. L., et al. (2021) · doi:10.22541/au.163649734.42542748/v1
Self-citation
Faculty Opinions recommendation of The mutational constraint spectrum quantified from variation in 141,456 humans.
Mulder, N. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.738024093.793575805
Coevolution of Mathematics, Statistics, and Genetics
Yoo, Y. J. (2021) · Springer eBooks · doi:10.1007/978-3-319-57072-3_28
Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
McNeill, A. (2019) · MDPI eBooks · doi:10.3390/books978-3-03921-611-6
New approaches and software for sequence function prediction and gene design integrating specific knowledge on protein structure and translation
Simm, D. (2022) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-9118
Monogenetic rare diseases in biomedical databases and text miningPreprint
Nesterova, A. P., Климов, Е. А., Sozin, S., Sobolev, V. V., Linsley, P. S., & Golovatenko-Abramov, P. K. (2022) · medRxiv · doi:10.1101/2022.04.07.22273575
Overview of healthcare biotechnology
Tanveer, A., Yadav, K., Dwivedi, S., Gupta, S., Yadav, P. K., & Yadav, D. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-89837-9.00003-6
Genetics
Itin, P. H. (2020) · Springer eBooks · doi:10.1007/978-3-662-58713-3_3-1
Faculty Opinions recommendation of Insights into genetics, human biology and disease gleaned from family based genomic studies.
Lek, M., & Lake, N. J. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734881195.793557392
Grundlagen der Genetik
Itin, P. H. (2017) · Springer eBooks · doi:10.1007/978-3-662-49546-9_3-2
Faculty Opinions recommendation of ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
Lek, M., & Lake, N. J. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.735854963.793562484
Faculty Opinions recommendation of Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.
Day-Williams, A. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734153280.793552681
Faculty Opinions recommendation of Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Mefford, H. C. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736551597.793571938
Faculty Opinions recommendation of Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Shoubridge, C. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736056379.793562397
Faculty Opinions recommendation of Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Depienne, C. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736551597.793564906
Protein Moonlighting
Henderson, B. E., Fares, M. A., & Martin, A. C. R. (2016) · doi:10.1002/9781118952108.ch9
Faculty Opinions recommendation of Analysis of protein-coding genetic variation in 60,706 humans.
Klymkowsky, M. W. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.726646180.793565293
COL4A4 variant recently identified: lessons learned in variant interpretation—a case report
Cocorpus, J., Hager, M. M., Benchimol, C., Bijol, V., Salem, F. E., Punj, S., Castellanos, L., Singer, P. S., Sethna, C. B., & Basalely, A. M. (2022) · BMC Nephrology · doi:10.1186/s12882-022-02866-9
Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencingPreprint
Nabavizadeh, N., Bressin, A., Chia, P. H., Traspas, R. M., Escande‐Beillard, N., Bonnard, C., Hojati, Z., Drutman, S. B., Freier, S., El-Khateeb, M., et al. (2022) · medRxiv · doi:10.1101/2022.07.15.22276800
Mendel paved the path toward understanding genetic diseases
Das, S. S. (2022) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-022-00339-0
Simulation of undiagnosed patients with novel genetic conditionsPreprint
Alsentzer, E., Finlayson, S. G., Li, M. M., Undiagnosed Diseases Network, Kobren, S. N., & Kohane, I. S. (2022) · medRxiv · doi:10.1101/2022.08.22.22279073
Piebaldism and Chromatophore Development in Reptiles is Linked to the TFEC GenePreprint
García‐Elfring, A., Sabin, C. E., Iouchmanov, A. L., Roffey, H. L., Samudra, S. P., Alcala, A. J., Osman, R. S., Lauderdale, J. D., Hendry, A. P., Menke, D. B., et al. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4198509
Genetics
Itin, P. H. (2022) · Springer eBooks · doi:10.1007/978-3-662-63709-8_3
Genomics screening of neonates
Kobayashi, E. S., & Hobbs, C. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00004-6
Gendiagnostik bei neurodegenerativen Erkrankungen
Greiten, B., Brüggemann, N., Spielmann, M., & Klein, C. (2022) · InFo Neurologie + Psychiatrie · doi:10.1007/s15005-022-2446-6
Automated Learning Approach for Genetic Diseases
Alajramy, L., Taweel, A., Jarrar, R., Lamine, E., & Megdiche, I. (2022) · IEEE/ACS International Conference on Computer Systems and Applications (AICCSA) · doi:10.1109/aiccsa56895.2022.10017483
Rare Disease Genomics and Clinical Diagnostics
Gouw, A. M., Pal, L. R., Varón, D., Fumagalli, D. C., & Chacko, A. (2019) · Royal Society of Chemistry eBooks · doi:10.1039/9781782628217-00212
Genomics in reproductive medicine: Current and future applications
Poli, M., & Capalbo, A. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91380-5.00026-5
Graph Neural Networks to Identify Genetic Modifiers of Rare Complex Inheritable Diseases
Niktab, E. (2023) · Open Access Victoria University of Wellington | Te Herenga Waka (Figshare) · doi:10.26686/wgtn.22714963
Genética y genómica en la atención de salud
Silvia Castillo, T. (2016) · Revista Hospital Clínico Universidad de Chile · doi:10.5354/2735-7996.2016.70860
Protein-coding potential of non-coding regions in the human genome
Kore, H. (2023) · Queensland University of Technology · doi:10.5204/thesis.eprints.242358
Genome Sequencing in Field Crops: Unlocking Agricultural Potential
Gupta, R., Verma, A. K., Yadav, H., Gupta, A. K., Srivastava, A., Singh, J. P., Kumar, P., & Maurya, A. K. (2023) · International Journal of Environment and Climate Change · doi:10.9734/ijecc/2023/v13i113544
Rendimiento del exoma para el diagnóstico temprano de las enfermedades raras genéticas en pacientes pediátricos. Revisión Narrativa
Fernández, M. C. P. (2023) · Pediatría · doi:10.14295/rp.v56i2.230
Investigating Mutations of 288 Genes in a Family with Charcot-Marie-Tooth Disease by the Whole-Exome Sequencing Method in Khuzestan Province
Miraali, M., & Khoshnood, Z. (2024) · Gene Cell and Tissue · doi:10.5812/gct-143343
Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis
Guan, J., Wu, X., Zhang, J., Li, J., Wang, H., & Wang, Q. (2024) · Journal of Neurogenetics · doi:10.1080/01677063.2024.2335171 · Cited by 1

Authors: Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover-Fong, J., Mathews, D., Witmer, P. D., Ling, H., Hetrick, K., Watkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A., & Bamshad, M. J.
Affiliations: University of Washington (US)
Baylor College of Medicine (US)
Johns Hopkins University (US)
Yale University (US)
Howard Hughes Medical Institute (US)
Seattle Children's Hospital (US)
Corresponding author: Bamshad, Michael J.
ORCID: Chong, Jessica X.
Buckingham, Kati J.
Jhangiani, Shalini N.
Sobreira, Nara
Smith, Joshua D.
Wiszniewski, Wojciech
Gambin, Tomasz
Doheny, Kimberly
Scott, Alan F.
Chakravarti, Aravinda
Hoover-Fong, Julie
Mathews, Debra
Witmer, P. Dane
Hetrick, Kurt
Patterson, Karynne E.
Blue, Elizabeth
Muzny, Donna
Kircher, Martin
Sutton, V. Reid
Tabor, Holly K.
Leal, Suzanne M.
Mane, Shrikant
Gibbs, Richard A.
Boerwinkle, Eric
Hamosh, Ada
Shendure, Jay
Lupski, James R.
Lifton, Richard P.
Valle, David
Nickerson, Deborah A.
Bamshad, Michael J.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2015-08
Volume: 97
Issue: 2
Pages: 199-215
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2015.06.009
PMC: PMC4573249
OpenAlex: W1701211704
Cited by: 643
References: 107
Citations by year: 2026: 16 · 2025: 18 · 2024: 33 · 2023: 38 · 2022: 59 · 2021: 70 · 2020: 72 · 2019: 90 · 2018: 84 · 2017: 83 · 2016: 67 · 2015: 11
FWCI: 10.39
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 189 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Howard Hughes Medical Institute
National Human Genome Research Institute (HG006493, U54HG006504, U54HG006542, UM1HG006504, HG006504, U54HG006493, UM1HG006542, HG006542, UM1HG006493)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords: genetic basis of disease, exome sequencing, gene discovery, carrier screening, mass screening, phenotypic variability, data sharing, gene function
MeSH terms: Genetics, Medical, Humans, Phenotype, Proteins, Genetic Diseases, Inborn

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks