| 1 | Genome-wide maps of highly- similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies | Coautor: Gonzaga-Jauregui, C, Fernandez-Luna, L, Aguilar-Perez, C, Grochowski, CM, et al. | 2025 | Human Genetics And Genomics Advances | WoS-id: 001407484100001
Scopus-id: 2-s2.0-85215374857
| 0 | 0 |
| 2 | Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource | Coautor: Gonzaga-Jauregui C., Popejoy A.B., Ritter D.I., Azzariti D., et al. | 2025 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 001424346000001
Scopus-id: 2-s2.0-85216671152
| 0 | 0 |
| 3 | Drug?device combinations in rare diseases: Challenges and opportunities | Coautor: Gonzaga-Jauregui C., Tataru E.A., Dooms M., Pasmooij A.M.G., et al. | 2025 | DRUG DISCOVERY TODAY | WoS-id: 001458775800001
Scopus-id: 2-s2.0-105001331699
| 0 | 0 |
| 4 | Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease | Coautor: Gonzaga-Jauregui, C, Flores-Ocampo, V, Lim, AWY, Ogonowski, NS, et al. | 2025 | GENES | WoS-id: 001476123300001
| 0 | 0 |
| 5 | A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice | 2ᵒ autor: Gonzaga-Jauregui C., Miller B.R., Brigatti K.W., de Jong J., et al. | 2025 | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | WoS-id: 001477554000001
Scopus-id: 2-s2.0-105003616421
| 0 | 0 |
| 6 | Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome | Coautor: Gonzaga-Jauregui, C, Potter, AS, Miyake, CY, Aguilar-Sanchez, Y, et al. | 2024 | CIRCULATION-GENOMIC AND PRECISION MEDICINE | WoS-id: 001293977900002
Scopus-id: 2-s2.0-85201785358
| 0 | 0 |
| 7 | High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation | Coautor: Gonzaga-Jauregui C., Gustafson J.A., Gibson S.B., Damaraju N., et al. | 2024 | GENOME RESEARCH | WoS-id: 001370590100001
Scopus-id: 2-s2.0-85209742112
| 14 | 16 |
| 8 | Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon | Coautor: Gonzaga-Jauregui C., Delgado-Vega A.M., Cederroth H., Taylan F., et al. | 2024 | NATURE GENETICS | WoS-id: 001412256300001
Scopus-id: 2-s2.0-85208710649
| 1 | 1 |
| 9 | Newborn screening in Mexico and Latin America: present and future | 1ᵉʳ autor: Gonzaga-Jauregui C., Moreno-Salgado R., Tovar-Casas J., Navarrete-Martínez J.I. | 2024 | Rare Disease And Orphan Drugs Journal | Scopus-id: 2-s2.0-105004988153
| 0 | 1 |
| 10 | ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean | 1ᵉʳ autor: Gonzaga-Jauregui C., Salazar C., Macdonald J., Reichardt J.K.V., et al. | 2024 | Rare Disease And Orphan Drugs Journal | Scopus-id: 2-s2.0-105005011264
| 0 | 0 |
| 11 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International | Coautor: Gonzaga-Jauregui, Claudia, Taruscio, Domenica, Salvatore, Marco, Lumaka, Aime, et al. | 2023 | Frontiers In Public Health | WoS-id: 000951257000001
Scopus-id: 2-s2.0-85150339636
| 10 | 10 |
| 12 | Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening | Coautor: Gonzaga-Jauregui, Claudia, Avnat, Eden, Shapira, Guy, Shoval, Shelly, et al. | 2023 | GENES | WoS-id: 000977616800001
Scopus-id: 2-s2.0-85158934565
| 1 | 1 |
| 13 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features | Coautor: Gonzaga-Jauregui, Claudia, Liu, Zhigang, Xin, Baozhong, Smith, Iris N., et al. | 2023 | HUMAN MOLECULAR GENETICS | WoS-id: 001051992400001
Scopus-id: 2-s2.0-85174919653
| 3 | 3 |
| 14 | Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators | Coautor: Gonzaga-Jauregui, Claudia, Sciascia, Savino, Roccatello, Dario, Salvatore, Marco, et al. | 2023 | Frontiers In Public Health | WoS-id: 001084383800001
Scopus-id: 2-s2.0-85173765610
| 6 | 8 |
| 15 | Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia | Coautor: Gonzaga-Jauregui, Claudia, Salzer-Sheelo, Liat, Fellner, Avi, Orenstein, Naama, et al. | 2022 | EUROPEAN JOURNAL OF NEUROLOGY | WoS-id: 000739918400001
Scopus-id: 2-s2.0-85122406865
| 4 | 5 |
| 16 | Mucus sialylation determines intestinal host-commensal homeostasis | Coautor: Gonzaga-Jauregui, Claudia, Yao, Yikun, Kim, Girak, Shafer, Samantha, et al. | 2022 | Cell | WoS-id: 000780727500002
Scopus-id: 2-s2.0-85127035413
| 129 | 141 |
| 17 | Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels | Coautor: Gonzaga-Jauregui, Claudia, Riggs, Erin Rooney, Bingaman, I, Taylor, Barry, Carrie-Ann, et al. | 2022 | GENETICS IN MEDICINE | WoS-id: 000855692500011
Scopus-id: 2-s2.0-85130941604
| 15 | 18 |
| 18 | Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases | Coautor: Gonzaga-Jauregui, Claudia, Dong, Zirui, David, Dezso, Morton, Cynthia C., et al. | 2022 | Frontiers in Genetics | WoS-id: 000859305200001
Scopus-id: 2-s2.0-85138791748
| 0 | 0 |
| 19 | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy | Coautor: Gonzaga-Jauregui, Claudia, Grange, Laura J., Reynolds, John J., Ullah, Farid, et al. | 2022 | NATURE COMMUNICATIONS | WoS-id: 000879110700028
Scopus-id: 2-s2.0-85141158594
| 21 | 22 |
| 20 | Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America | Coautor: Gonzaga-Jauregui, Claudia, Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, et al. | 2022 | Frontiers in Genetics | WoS-id: 000898228100001
Scopus-id: 2-s2.0-85144576004
| 17 | 23 |
| 21 | Addressing the challenges of polygenic scores in human genetic research | Coautor: Gonzaga-Jauregui, Claudia, Novembre, John, Stein, Catherine, Asgari, Samira, et al. | 2022 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 000905285200002
Scopus-id: 2-s2.0-85143305002
| 25 | 26 |
| 22 | A de novo paradigm for male infertility | Coautor: Gonzaga-Jauregui C., Oud M.S., Smits R.M., Smith H.E., et al. | 2022 | NATURE COMMUNICATIONS | Scopus-id: 2-s2.0-85122860866
| 0 | 53 |
| 23 | Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension (Genome Medicine, (2019), 11, 1, (69), 10.1186/s13073-019-0685-z) | Coautor: Gonzaga-Jauregui C., Zhu N., Pauciulo M.W., Welch C.L., et al. | 2022 | GENOME MEDICINE | Scopus-id: 2-s2.0-85124323992
| 0 | 0 |
| 24 | Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity | Coautor: Gonzaga-Jauregui C., Kurolap A., Kreuder F., Duvdevani M.P., et al. | 2022 | AMERICAN JOURNAL OF HUMAN GENETICS | Scopus-id: 2-s2.0-85125267151
| 0 | 9 |
| 25 | Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B | Coautor: Gonzaga-Jauregui C., Williams K.B., Horst M., Young M., et al. | 2022 | BMC CARDIOVASCULAR DISORDERS | Scopus-id: 2-s2.0-85126530004
| 0 | 3 |
| 26 | NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold | Coautor: Gonzaga-Jauregui C., Iffland P.H., Ii, Everett M.E., et al. | 2022 | Brain | Scopus-id: 2-s2.0-85135124839
| 0 | 22 |
| 27 | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy | 1ᵉʳ autor: Gonzaga-Jauregui C., Harel T., Gambin T., Kousi M., et al. | 2015 | CELL REPORTS | WoS-id: 000360130900011
Scopus-id: 2-s2.0-84941023992
| 199 | 210 |
| 28 | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease | Coautor: Gonzaga-Jauregui C., Karaca E., Harel T., Pehlivan D., et al. | 2015 | Neuron | WoS-id: 000365765400011
Scopus-id: 2-s2.0-84946140195
| 244 | 256 |
| 29 | Assessing structural variation in a personal genome-towards a human reference diploid genome | Coautor: Gonzaga-Jauregui C., English A.C., Salerno W.J., Hampton O.A., et al. | 2015 | Bmc Genomics | WoS-id: 000367568000001
Scopus-id: 2-s2.0-84934759833
| 108 | 116 |
| 30 | NR2F1 mutations cause optic atrophy with intellectual disability | Coautor: Gonzaga-Jauregui C., Bosch D.G.M., Boonstra F.N., Xu M., et al. | 2014 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 000331419500014
Scopus-id: 2-s2.0-84893770103
| 105 | 108 |
| 31 | Human CLP1 mutations alter tRNA biogenesis, Affecting both peripheral and central nervous system function | Coautor: Gonzaga-Jauregui C., Karaca E., Weitzer S., Pehlivan D., et al. | 2014 | Cell | WoS-id: 000335392100013
Scopus-id: 2-s2.0-84899576549
| 164 | 174 |
| 32 | Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D | Coautor: Gonzaga-Jauregui C., Okamoto Y., Goksungur M.T., Pehlivan D., et al. | 2014 | GENETICS IN MEDICINE | WoS-id: 000335610900005
Scopus-id: 2-s2.0-84899928149
| 30 | 31 |
| 33 | Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations | Coautor: Gonzaga-Jauregui C., Rainger J., Pehlivan D., Johansson S., et al. | 2014 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 000337331200012
Scopus-id: 2-s2.0-84902170925
| 70 | 74 |
| 34 | Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis | 2ᵒ autor: Gonzaga-Jauregui C., Prada C.E., Tannenbaum R., Penney S., et al. | 2014 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000341362100006
Scopus-id: 2-s2.0-84902155842
| 24 | 25 |
| 35 | Erratum: Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D (Genetics in Medicine (2013) DOI:10.1038/gim.2013.155) | Coautor: Gonzaga-Jauregui C., Okamoto Y., Goksungur M.T., Pehlivan D., et al. | 2014 | GENETICS IN MEDICINE | Scopus-id: 2-s2.0-84898487333
| 0 | 0 |
| 36 | Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis | Coautor: Gonzaga-Jauregui C., Dittwald P., Gambin T., Carvalho C.M., et al. | 2013 | HUMAN MUTATION | WoS-id: 000314476900029
Scopus-id: 2-s2.0-84871622924
| 47 | 49 |
| 37 | Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly | 1ᵉʳ autor: Gonzaga-Jauregui C., Lotze T., Jamal L., Penney S., et al. | 2013 | JAMA NEUROLOGY | WoS-id: 000330118200005
Scopus-id: 2-s2.0-84890424575
| 58 | 59 |
| 38 | Human genome sequencing in health and disease | 1ᵉʳ autor: Gonzaga-Jauregui C., Lupski J.R., Gibbs R.A. | 2012 | ANNU REV MED | WoS-id: 000301838400003
Scopus-id: 2-s2.0-80053557894
| 331 | 387 |
| 39 | Identical repeated backbone of the human genome | Coautor: Gonzaga-Jauregui C., Zepeda-Mendoza C.J., Lemus T., Yanez, O, et al. | 2010 | Bmc Genomics | WoS-id: 000276362400001
Scopus-id: 2-s2.0-77649322028
| 6 | 9 |
| 40 | High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution | Coautor: Gonzaga-Jauregui C., Hasin Y., Olender T., Khen M., et al. | 2008 | PLOS GENETICS | WoS-id: 000261481000004
Scopus-id: 2-s2.0-57149089244
| 90 | 98 |
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