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D. A. Carere · SciRah

Researcher profile · Semantic Scholar

D. A. Carere

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D. A. Carere — researcher profile on SciRah

h-index: 19
Works: 53
Citations: 1,309

Most-cited papers

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
E. Aref-Eshghi, E. Bend, S. Colaiacovo, Michelle Caudle +23 more
2019American Journal of Human Genetics176 citations Open access
Semantic Scholar
Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results
J. Roberts, M. Gornick, D. A. Carere, Wendy R. Uhlmann +2 more
2017Public Health Genomics144 citations Open access
Semantic Scholar
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
E. Aref-Eshghi, E. Bend, R. Hood, L. Schenkel +23 more
2018Nature Communications116 citations Open access
Semantic Scholar
Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing
D. A. Carere, P. Kraft, K. Kaphingst, J. Roberts +1 more
2015Genetics in Medicine93 citations Open access
Semantic Scholar
Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing.
C. H. van der Wouden, D. A. Carere, Anke H. Maitland-van der Zee, M. Ruffin +2 more
2016Annals of Internal Medicine89 citations Open access
Semantic Scholar
How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study
Jenny E. Ostergren, M. Gornick, D. A. Carere, Sarah S. Kalia +5 more
2015Public Health Genomics85 citations Open access
Semantic Scholar
Adopting Genetics: Motivations and Outcomes of Personal Genomic Testing in Adult Adoptees
Natalie M. Baptista, Kurt D. Christensen, D. A. Carere, Simon Broadley +2 more
2016Genetics in Medicine57 citations Open access
Semantic Scholar
Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study
Diane R. Koeller, W. Uhlmann, D. A. Carere, R. Green +1 more
2017Journal of Genetic Counseling50 citations Open access
Semantic Scholar
Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers
D. A. Carere, M. Couper, Scott D Crawford, Sarah S. Kalia +5 more
2014Genome Medicine48 citations Open access
Semantic Scholar
Prescription medication changes following direct-to-consumer personal genomic testing: Findings from the Impact of Personal Genomics (PGen) Study
D. A. Carere, T. VanderWeele, J. Vassy, C. H. van der Wouden +3 more
2016Genetics in Medicine40 citations Open access
Semantic Scholar
Consumer Perspectives on Access to Direct‐to‐Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience
Sarah E. Gollust, S. Gray, D. A. Carere, B. Koenig +7 more
2017Milbank Quarterly37 citations Open access
Semantic Scholar
Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.
S. Gray, Sarah E. Gollust, D. A. Carere, Clara A. Chen +7 more
2017Journal of Clinical Oncology37 citations Open access
Semantic Scholar
Explaining, not just predicting, drives interest in personal genomics
S. Meisel, D. A. Carere, J. Wardle, Sarah S. Kalia +4 more
2015Genome Medicine33 citations Open access
Semantic Scholar
Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
E. Aref-Eshghi, D. Bourque, J. Kerkhof, D. A. Carere +4 more
2019Human Mutation31 citations Open access
Semantic Scholar
Diet and exercise changes following direct-to-consumer personal genomic testing
Daiva E. Nielsen, D. A. Carere, Catharine Wang, J. Roberts +22 more
2017BMC Medical Genomics28 citations Open access
Semantic Scholar
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani, S. Albaba, D. A. Carere, M. J. Guillen Sacoto +50 more
2021American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study
D. A. Carere, T. VanderWeele, Tanya A. Moreno, J. Mountain +3 more
2015BMC Medical Genomics26 citations Open access
Semantic Scholar
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
M. Paul, A. R. Duncan, C. Genetti, Hong-Ling Pan +42 more
2022American Journal of Human Genetics23 citations Open access
Semantic Scholar
Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study
L. Landry, Daiva E. Nielsen, D. A. Carere, J. Roberts +1 more
2017Journal of Community Genetics22 citations Open access
Semantic Scholar
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L. Shepherdson, K. Hutchison, Dilan Wellalage Don, George McGillivray +52 more
2024American Journal of Human Genetics19 citations Open access
Semantic Scholar
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
A. Holtz, Rachel Vancoil, Elizabeth A VanSickle, D. A. Carere +44 more
2022Genetics in Medicine16 citations Open access
Semantic Scholar
Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking.
Emily Olfson, Sarah M. Hartz, D. A. Carere, R. Green +2 more
2016Nicotine & Tobacco Research16 citations Open access
Semantic Scholar
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Remzi Karayol, Maria C. Borroto, S. Haghshenas, Anoja Namasivayam +62 more
2024American Journal of Human Genetics14 citations Open access
Semantic Scholar
Epigenomic Mechanisms of Human Developmental Disorders
E. Aref-Eshghi, L. Schenkel, D. A. Carere, D. Rodenhiser +1 more
201811 citations
Semantic Scholar
Membrane Type-1 Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases-2 RNA Levels Mimic Each Other during Xenopus laevis Metamorphosis
Logan A. Walsh, D. A. Carere, C. Cooper, S. Damjanovski
2007PLoS ONE11 citations Open access
Semantic Scholar
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark +84 more
2024European Journal of Human Genetics8 citations Open access
Semantic Scholar
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans
Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, S. Pajusalu +21 more
2023Journal of Clinical Investigation8 citations Open access
Semantic Scholar
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
S. Efthymiou, C. Leo, C. Deng, Sheng-Jia Lin +96 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
S. Mullegama, Kaitlyn A. Kiernan, E. Torti, Ethan Pavlovsky +36 more
2024American Journal of Human Genetics7 citations
Semantic Scholar
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
P. Bhai, M. Levy, Kathleen Rooney, D. A. Carere +10 more
2021Frontiers in Genetics7 citations Open access
Semantic Scholar
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
R. Kaiyrzhanov, Kyle Thompson, S. Efthymiou, Askhat Mukushev +39 more
2024Brain Communications5 citations Open access
Semantic Scholar
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
Michele Nicastro, A. Vermeer, P. Postema, R. Tadros +67 more
2025American Journal of Human Genetics3 citations Open access
Semantic Scholar
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
Amber S. E. van Oirsouw, M. A. Hadders, M. Koetsier, E. Peters +27 more
2025Human Molecular Genetics3 citations Open access
Semantic Scholar
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
M. Paul, A. R. Duncan, C. Genetti, Hong-Ling Pan +41 more
2023American Journal of Human Genetics3 citations Open access
Semantic Scholar
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N. Anderson, S. Drukewitz, Sukhleen Kour, A. V. Chimata +54 more
2025American Journal of Human Genetics2 citations
Semantic Scholar
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia
V. Simha, M. LoPiccolo, Anna Platt, Rebecca J Brown +12 more
2025Journal of Clinical Investigation2 citations Open access
Semantic Scholar
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies
E. Aref-Eshghi, Katherine J Anderson, Lauren Boulay, Kathleen Brown +8 more
2024HGG advances2 citations Open access
Semantic Scholar
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures
A. Muir, Adi Reich, Fanggeng Zou, D. A. Carere +3 more
2024HGG advances2 citations Open access
Semantic Scholar
Expanding the phenotype of ASXL3‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021;185A(11):3446–3458. Doi: 10.1002/ajmg.a.62465 ″
Schaida Schirwani, S. Albaba, D. A. Carere, Maria J. Guillen Sacoto +44 more
2022American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S. E. van Oirsouw, P. Nedbalova, M. Hančárová, Jan Prchal +75 more
2025Genetics in Medicine1 citations Open access
Semantic Scholar
Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders
M. Stevenson, A. Bayliss, V. J. Stokes, K. English +38 more
2024medRxiv1 citations Open access
Semantic Scholar
Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome
Amber S. E. van Oirsouw, Tzung-Chien Hsieh, M. Koetsier, Abdulrazak Alali +27 more
2026Clinical Genetics0 citations Open access
Semantic Scholar
P565: GeneMatcher-facilitated collaborative research ends diagnostic odysseys: From candidate gene cohorts to diagnostic reports*
E. Torti, Olivia L. Redlich, B. McGivern, Michelle M. Morrow +19 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl +8 more
2025HGG advances0 citations Open access
Semantic Scholar
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
E. Torti, S. Mullegama, I. De Bie, Angelique Mercier +8 more
2025HGG advances0 citations
Semantic Scholar
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark +84 more
2024European Journal of Human Genetics0 citations Open access
Semantic Scholar
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
S. Mullegama, Kaitlyn A. Kiernan, E. Torti, Ethan Pavlovsky +36 more
2024American Journal of Human Genetics0 citations Open access
Semantic Scholar
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
Michele Nicastro, A. Vermeer, P. Postema, R. Tadros +66 more
2024medRxiv0 citations Open access
Semantic Scholar
Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study
L. Landry, Daiva E. Nielsen, D. A. Carere, J. Roberts +1 more
2017Journal of Community Genetics0 citations Open access
Semantic Scholar
Thank You to Reviewers
Liane J Abrams, Shenaz Ahmed, M. Ahrens, Elizabeth Alexander +47 more
2016Journal of Genetic Counseling0 citations
Semantic Scholar

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