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

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

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

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

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

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

Using Human Genetics to Drive Drug Discovery: A Perspective

Fox, C. S. (2019) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2018.12.045 · Cited by 16

Review of human genetic and clinical studies directly relevant to GnRH signalling

Seminara, S. B., & Topaloglu, A. K. (2021) · Journal of Neuroendocrinology · doi:10.1111/jne.13080 · Cited by 15

Inborn Errors of Immunity in Hidradenitis Suppurativa Pathogenesis and Disease Burden

Colvin, A., & Petukhova, L. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01518-3 · Cited by 17

Genomic, molecular, and cellular divergence of the human brain

Nehme, R., Pietiläinen, O. P. H., & Barrett, L. E. (2024) · Trends in Neurosciences · doi:10.1016/j.tins.2024.05.009 · Cited by 13

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Chong, J. X., Berger, S., Baxter, S. M., Smith, E. D., Xiao, C., Calame, D. G., Hawley, M. H., Rivera-Munoz, E. A., DiTroia, S. P., Abouhala, S., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101199 · Cited by 19

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Palmer, C. G. S., McConkie‐Rosell, A., Holm, I. A., LeBlanc, K., Sinsheimer, J. S., Briere, L. C., Dorrani, N., Herzog, M. R., Lincoln, S. A., Schoch, K., et al. (2018) · Journal of Genetic Counseling · doi:10.1007/s10897-018-0228-6 · Cited by 16

Magnitude of Mendelian versus complex inheritance of rare disorders

Chakravarti, A. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62463 · Cited by 16

The diagnostic trajectory of infants and children with clinical features of genetic disease

Schroeder, B. E., Gonzaludo, N., Everson, K., Than, K., Sullivan, J., Taft, R. J., & Belmont, J. W. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00260-2 · Cited by 18

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway

Andreoletti, G., Shakhnovich, V., Christenson, K. M., Coelho, T. A. F., Haggarty, R., Afzal, N. A., Batra, A., Petersen, B., Mort, M. E., Beattie, R. M., et al. (2017) · Scientific Reports · doi:10.1038/srep46454 · Cited by 16

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study

Park, J., Zayhowski, K., Newson, A. J., & Ormond, K. E. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1076 · Cited by 16

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

Akerman, İ., Maestro, M. A., Franco, E. D., Grau, V., Flanagan, S. E., García-Hurtado, J., Mittler, G., Ravassard, P., Piemonti, L., Ellard, S., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108981 · Cited by 15

Genomic Approaches to Hypertension

Dodoo, S., & Benjamin, I. J. (2017) · Cardiology Clinics · doi:10.1016/j.ccl.2016.12.001 · Cited by 16

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements

Lupski, J. R. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.018 · Cited by 15

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases

Işık, E., Önay, H., Atık, T., Canda, E. E., Çoğulu, Ö., Çöker, M., & Özkınay, F. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103725 · Cited by 14

How the human genome transformed study of rare diseases

Alkuraya, F. S. (2021) · Nature · doi:10.1038/d41586-021-00294-7 · Cited by 15

Orthogonal NGS for High Throughput Clinical Diagnostics

Chennagiri, N., White, E. J., Frieden, A., Lopez, E., Lieber, D. S., Nikiforov, A., Ross, T., Batorsky, R., Hansen, S. L., Lip, V., et al. (2016) · Scientific Reports · doi:10.1038/srep24650 · Cited by 14

Gene‐based segregation method for identifying rare variants in family‐based sequencing studies

Qiao, D., Lange, C., Laird, N. M., Won, S., Hersh, C. P., Morrow, J. D., Hobbs, B. D., Lutz, S. M., Ruczinski, I., Beaty, T. H., et al. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22037 · Cited by 15

Loss-of-function tolerance of enhancers in the human genome

Xu, D., Gökçümen, Ö., & Khurana, E. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008663 · Cited by 14

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Weghe, J. C. V. D., Giordano, J. L., Mathijssen, I. B., Mojarrad, M., Lugtenberg, D., Miller, C. V., Dempsey, J. C., Mohajeri, M. S. A., van Leeuwen, E., Pajkrt, E., et al. (2020) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2020.100016 · Cited by 14

WEScover: selection between clinical whole exome sequencing and gene panel testing

Lee, I., Lin, Y., Alvarez, W. J., Hernandéz-Ferrer, C., Mandl, K. D., & Kong, S. W. (2021) · BMC Bioinformatics · doi:10.1186/s12859-021-04178-5 · Cited by 14

Mendelian gene identification through mouse embryo viability screening

Cacheiro, P., Westerberg, C. H., Mager, J., Dickinson, M. E., Nutter, L. M. J., Muñoz‐Fuentes, V., Hsu, C., den Veyver, I. B. V., Flenniken, A. M., McKerlie, C., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01118-7 · Cited by 12

Nature and nurture: understanding phenotypic variation in inborn errors of immunity

Similuk, M. N., & Kuijpers, T. W. (2023) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2023.1183142 · Cited by 17

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

Chen, H., Zhou, X.-Y., Wang, J., Wang, X., Liu, L., Wu, S., Li, T., Chen, S., Yang, J., Sham, P., et al. (2016) · Scientific Reports · doi:10.1038/srep26362 · Cited by 12

The present and future of whole-exome sequencing in studying and treating human reproductive disorders

Guo, W., Zhu, X., Yan, L., & Qiao, J. (2018) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2018.08.004 · Cited by 14

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Juven, A., Nambot, S., Piton, A., Jean‐Marçais, N., Masurel, A., Callier, P., Marle, N., Mosca‐Boidron, A., Kuentz, P., Philippe, C., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0582-3 · Cited by 14

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

Beecroft, S. J., Lamont, P. J., Edwards, S., Goullée, H., Davis, M. R., Laing, N. G., & Ravenscroft, G. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00495-2 · Cited by 14

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

Young, N., Asif, M., Jackson, M., Fernández-Mayoralas, D. M., de la Peña, M. J., Calleja‐Pérez, B., Álvarez, S., Hunter-Featherstone, E., Noegel, A. A., Höhne, W. E., et al. (2021) · Genes · doi:10.3390/genes12091294 · Cited by 12

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T. M., Nickerson, D. A., Kubisch, C., Bamshad, M. J., & Lessel, D. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38406 · Cited by 14

Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity

Wang, J., Mao, D., Fazal, F., Kim, S., Yamamoto, S., Bellen, H. J., & Liu, Z. (2019) · Current Protocols in Bioinformatics · doi:10.1002/cpbi.85 · Cited by 14

The promise and reality of therapeutic discovery from large cohorts

Melamud, E., Taylor, D. L., Sethi, A., Cule, M., Baryshnikova, A., Saleheen, D., van Bruggen, N., & FitzGerald, G. A. (2020) · Journal of Clinical Investigation · doi:10.1172/jci129196 · Cited by 14

Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Shakiba, M., & Keramatipour, M. (2018) · PubMed Central · Cited by 14

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

Palombo, F., Graziano, C., Al-Wardy, N., Nouri, N., Marconi, C., Magini, P., Severi, G., Morgia, C. L., Cantalupo, G., Cordelli, D. M., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02187-7 · Cited by 14

Increasing diagnostic yield by RNA-Sequencing in rare disease—bypass hurdles of interpreting intronic or splice-altering variants

Li, D., Tian, L., & Hakonarson, H. H. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.01.14 · Cited by 13

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Issa, M. Y., Chechlacz, Z., Stanley, V., George, R. D., McEvoy‐Venneri, J., Belandres, D., Elbendary, H. M., Gaber, K. R., Nabil, A., Abdel‐Hamid, M. S., et al. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-0714-1 · Cited by 13

Genetic influences of the effect of circulating inflammatory cytokines on osteoarthritis in humans

Huang, G., Li, W., Kan, H., Lü, X., Liao, W., & Zhao, X. (2022) · Osteoarthritis and Cartilage · doi:10.1016/j.joca.2022.12.007 · Cited by 13

Genetic Diagnosis of Rare Diseases: Past and Present

Fuentes, F. J. R., González‐Meneses, A., Ars, E., & Hernández‐Jaras, J. (2020) · Advances in Therapy · doi:10.1007/s12325-019-01176-1 · Cited by 13

Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

Allington, G., Duy, P. Q., Ryou, J., Singh, A. K., Kiziltug, E., Robert, S. M., Kundishora, A. J., King, S. B., Haider, S. M., Kahle, K. T., et al. (2022) · Journal of Neurosurgery Pediatrics · doi:10.3171/2021.8.peds21368 · Cited by 13

Practice and Educational Gaps in Genodermatoses

Schaffer, J. V. (2016) · Dermatologic Clinics · doi:10.1016/j.det.2016.02.007 · Cited by 13

Benchmarking distributed data warehouse solutions for storing genomic variant information

Wiewiórka, M. S., Wysakowicz, D. P., Okoniewski, M. J., & Gambin, T. (2017) · Database · doi:10.1093/database/bax049 · Cited by 13

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants

Anderson, C. L., Routes, T. C., Eckhardt, L. L., Delisle, B. P., January, C. T., & Kamp, T. J. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0842-1 · Cited by 13

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Jenkins, M. M., Almli, L. M., Pangilinan, F., Chong, J. X., Blue, E., Shapira, S. K., White, J. J., McGoldrick, D. J., Smith, J. D., Mullikin, J. C., et al. (2019) · Birth Defects Research · doi:10.1002/bdr2.1554 · Cited by 13

Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation

Simonovsky, E., Sharon, M., Ziv, M., Mauer, O., Hekselman, I., Jubran, J., Vinogradov, E., Argov, C. M., Basha, O., Kerber, L., et al. (2023) · Molecular Systems Biology · doi:10.15252/msb.202211407 · Cited by 11

The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth trauma

Erickson, R. P. (2016) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2015.12.002 · Cited by 13

Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation

Pengelly, R. J., Vergara-Lope, A., Alyousfi, D., Jabalameli, M. R., & Collins, A. R. (2017) · Briefings in Bioinformatics · doi:10.1093/bib/bbx110 · Cited by 12

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

Zhong, X. Y., Yin, Z., Jia, G., Zhou, D., Wei, Q., Faucon, A. B., Evans, P. D., Gamazon, E. R., Li, B., Tao, R., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0786-5 · Cited by 13

An Imperative Need for Further Genetic Studies of Alopecia Areata

Petukhova, L. (2020) · Journal of Investigative Dermatology Symposium Proceedings · doi:10.1016/j.jisp.2020.04.003 · Cited by 12

TMSNP: a web server to predict pathogenesis of missense mutations in the transmembrane region of membrane proteins

García‐Recio, A., Gómez-Tamayo, J. C., Reina, I., Campillo, M., Cordomí, A., & Olivella, M. (2021) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqab008 · Cited by 12

Constraining models of dominance for nonsynonymous mutations in the human genome

Kyriazis, C. C., & Lohmueller, K. E. (2024) · PLoS Genetics · doi:10.1371/journal.pgen.1011198 · Cited by 12

A generative-discriminative framework that integrates imaging, genetic, and diagnosis into coupled low dimensional space

Ghosal, S., Chen, Q., Pergola, G., Goldman, A. L., Ulrich, W. S., Berman, K. F., Blasi, G., Fazio, L., Rampino, A., Bertolino, A., et al. (2021) · NeuroImage · doi:10.1016/j.neuroimage.2021.118200 · Cited by 11

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China

Li, J., Liu, Y., Diao, Y., Zhou, L., Xin, Y., Jiang, L., Li, R., Wang, J., Duan, W., & Liu, J. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1800 · Cited by 11

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Lieberwirth, J. K., Büttner, B., Klöckner, C., Platzer, K., Popp, B., & Jamra, R. A. (2022) · Human Mutation · doi:10.1002/humu.24451 · Cited by 11

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Nabavizadeh, N., Bressin, A., Shboul, M., Traspas, R. M., Chia, P. H., Bonnard, C., Szenker‐Ravi, E., Sarıbaş, B., Beillard, E. J., Altunoğlu, U., et al. (2023) · EMBO Molecular Medicine · doi:10.15252/emmm.202216478 · Cited by 11

Ultra-rare Disease and Genomics-Driven Precision Medicine

Lee, S., & Choi, M. (2016) · Genomics & Informatics · doi:10.5808/gi.2016.14.2.42 · Cited by 12

Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review

Alyousfi, D., Baralle, D., & Collins, A. R. (2018) · Briefings in Functional Genomics · doi:10.1093/bfgp/ely033 · Cited by 10

High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report

Hersh, C. P., Adcock, I. M., Celedon, J. C., Cho, M. H., Christiani, D. C., Himes, B. E., Kaminski, N., Mathias, R. A., Meyers, D. A., Quackenbush, J. F., et al. (2018) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201810-716ws · Cited by 11

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era

Berardo, A., & Quinzii, C. M. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.02 · Cited by 11

Genomic sequencing of rare diseases

Gonzaga-Jauregui, C. G., & Zepeda‐Mendoza, C. J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820140-4.00001-6 · Cited by 11

Explorations to improve the completeness of exome sequencing

Du, C., Pusey, B. N., Adams, C. J., Lau, C. C., Bone, W. P., Gahl, W. A., Markello, T. C., & Adams, D. R. (2016) · BMC Medical Genomics · doi:10.1186/s12920-016-0216-3 · Cited by 11

Simulation of undiagnosed patients with novel genetic conditions

Alsentzer, E., Finlayson, S. G., Li, M. M., Undiagnosed Diseases Network, Kobren, S. N., & Kohane, I. S. (2023) · Nature Communications · doi:10.1038/s41467-023-41980-6 · Cited by 10

acmgscaler : an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

Badonyi, M., & Marsh, J. A. (2025) · Bioinformatics · doi:10.1093/bioinformatics/btaf503 · Cited by 10

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Mukherjee, S., Cassini, T. A., Hu, N., Yang, T., Li, B., Shen, W., Moth, C. W., Rinker, D. C., Sheehan, J. H., Cogan, J. D., et al. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100131 · Cited by 10

Assessing the causal relationship between COVID-19 and post-COVID-19 syndrome: A Mendelian randomisation study

Tao, Y., Zhao, R., Han, J., & Li, Y. (2023) · Journal of Global Health · doi:10.7189/jogh.13.06054 · Cited by 10

Functional genomics and small molecules in mitochondrial neurodevelopmental disorders

Calame, D. G., & Emrick, L. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00316 · Cited by 11

Applying family analyses to electronic health records to facilitate genetic research

Huang, X., Elston, R. C., Rosa, G. J. M., Mayer, J. G., Ye, Z., Kitchner, T., Brilliant, M. H., Page, D., & Hebbring, S. J. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx569 · Cited by 9

Genetic architecture of neurodegenerative dementias

Clarimón, J., Moreno–Grau, S., Cervera‐Carles, L., Dols‐Icardo, O., Sánchez‐Juan, P., & Ruiz, A. (2020) · Neuropharmacology · doi:10.1016/j.neuropharm.2020.108014 · Cited by 11

Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network

Amiri, H., Kohane, I. S., & Undiagnosed Diseases Network (2021) · JAMA Network Open · doi:10.1001/jamanetworkopen.2020.36220 · Cited by 8

GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM

Rahit, K. M. T. H., Avramović, V., Chong, J. X., & Tarailo‐Graovac, M. (2024) · BMC Bioinformatics · doi:10.1186/s12859-024-05693-x · Cited by 13

The distribution of highly deleterious variants across human ancestry groups

Stolyarova, A. V., Coop, G., & Przeworski, M. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2503857122 · Cited by 11

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Macias, A., Gambin, T., Szafrański, P., Jhangiani, S. N., Kolasa, A., Obersztyn, E., Lupski, J. R., Stankiewicz, P., & Kamińska, A. (2016) · Neurologia i Neurochirurgia Polska · doi:10.1016/j.pjnns.2016.06.008 · Cited by 9

The frontiers of sequencing in undiagnosed neurodevelopmental diseases

Lee, H., & Nelson, S. F. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.003 · Cited by 9

Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel

Kannan-Sundhari, A., Yan, D. L. S., Saeidi, K., Sahebalzamani, A., Blanton, S. H., & Liu, X. Z. (2020) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2020.0153 · Cited by 9

MIB2variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy

Piccolo, P., Attanasio, S., Secco, I., Sangermano, R., Strisciuglio, C., Limongelli, G., Miele, E., Mutarelli, M., Banfi, S., Nigro, V., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw365 · Cited by 9

Cancer genetics meets biomolecular mechanism—bridging an age‐old gulf

González‐Sánchez, J. C., Raimondi, F., & Russell, R. B. (2018) · FEBS Letters · doi:10.1002/1873-3468.12988 · Cited by 8

2018 George Lyman Duff Memorial Lecture

McPherson, R. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.311392 · Cited by 11

Exploring the journey to genomic testing and genetic services: A qualitative study of parental perspectives of children with rare conditions

Clark, A., Wallingford, C. K., Krause, M., Renton, H., Yanes, T., Jacobs, C., Brett, G. R., & McInerney-Leo, A. M. (2024) · Journal of Genetic Counseling · doi:10.1002/jgc4.1996 · Cited by 10

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Kobren, S. N., Moldovan, M. A., Reimers, R., Traviglia, D., Li, X., Barnum, D., Veit, A. D., Corona, R. I., Neto, G. D. V. C., Willett, J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61712-2 · Cited by 10

Data from electronic healthcare records expand our understanding of X‐linked genetic diseases

Tinker, R. J., Bastarache, L. A., Ezell, K. M., Neumann, S. M., Furuta, Y., Morgan, K. A., & Phillips, J. A. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63527 · Cited by 8

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Ali, A. B. H., Amouri, A., Sayeb, M., Makni, S. K., Hammami, W., Naouali, C., Dallali, H., Romdhane, L., Bashamboo, A., McElreavey, K., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.694 · Cited by 8

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

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