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Kimberly Leblanc · SciRah

Researcher profile · Semantic Scholar

Kimberly Leblanc

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Kimberly Leblanc — researcher profile on SciRah

h-index: 12
Works: 34
Citations: 505

Most-cited papers

Demographic and mental health assessments in the adolescent brain and cognitive development study: Updates and age-related trajectories
D. Barch, Matthew D. Albaugh, A. Baskin-Sommers, Brittany E. Bryant +21 more
2021Developmental Cognitive Neuroscience134 citations Open access
Semantic Scholar
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary E. Hackbarth, Alissa J. Becerril +264 more
2019American Journal of Human Genetics84 citations Open access
Semantic Scholar
A Comprehensive Overview of the Physical Health of the Adolescent Brain Cognitive Development Study Cohort at Baseline
C. Palmer, C. Sheth, A. Marshall, S. Adise +24 more
2021Frontiers in Pediatrics38 citations Open access
Semantic Scholar
Cases from the Undiagnosed Diseases Network: The Continued Value of Counseling Skills in a New Genomic Era
Ellen F. Macnamara, K. Schoch, Emily G. Kelley, E. Fieg +5 more
2019Journal of Genetic Counseling36 citations Open access
Semantic Scholar
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
S. Kobren, Dustin Baldridge, Matt Velinder, J. Krier +18 more
2021Genetics in Medicine27 citations Open access
Semantic Scholar
Characteristics of undiagnosed diseases network applicants: implications for referring providers
N. Walley, L. Pena, S. Hooper, H. Cope +13 more
2018BMC Health Services Research27 citations Open access
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
Christina G. S. Palmer, A. McConkie-Rosell, I. Holm, Kimberly Leblanc +8 more
2018Journal of Genetic Counseling16 citations Open access
Semantic Scholar
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
J. Newman, Aaron C. Shaver, Jonathan H. Sheehan, S. Mallal +208 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students
Megan E. Grove, Shana White, D. Fisk, Shannon Rego +200 more
2019Journal of Genetic Counseling12 citations Open access
Semantic Scholar
geneHummus: an R package to define gene families and their expression in legumes and beyond
J. Die, Moamen M. Elmassry, Kimberly Leblanc, O. Awe +2 more
2019BMC Genomics12 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
Patients as Partners in Rare Disease Diagnosis and Research
A. McCray, Kimberly Leblanc
2021The Yale Journal of Biology and Medicine9 citations
Semantic Scholar
Finding commonalities in rare diseases through the undiagnosed diseases network
Josephine Yates, A. Gutiérrez-Sacristán, V. Jouhet, Kimberly Leblanc +8 more
2021J. Am. Medical Informatics Assoc.8 citations Open access
Semantic Scholar
Transforming the Future of Adolescent Health: Opportunities from the ABCD Study
E. Hoffman, Kimberly Leblanc, S. Weiss, G. Dowling
2021Journal of Adolescent Health8 citations Open access
Semantic Scholar
Family Genetic Result Communication in Rare and Undiagnosed Disease Communities: Understanding the Practice
C. Studwell, Emily G. Kelley, Janet S. Sinsheimer, Christina G. S. Palmer +1 more
2020Journal of Genetic Counseling8 citations Open access
Semantic Scholar
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Jenna Pucel, L. Briere, Chloe M. Reuter, Perman Gochyyev +1 more
2024Genetics in Medicine6 citations
Semantic Scholar
Teaching large language models to reason like expert diagnosticians
Thomas A. Buckley, R. Conci, Peter G. Brodeur, Jason Gusdorf +22 more
20255 citations
Semantic Scholar
Participation in a national diagnostic research study: assessing the patient experience
Lindsay E Rosenfeld, Kimberly Leblanc, Anna Nagy, Braeden K. Ego +259 more
2023Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
Kimberly Leblanc, E. Glanton, A. Nagy, Jorick Bater +4 more
2021Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
S. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia +339 more
2025Nature Communications3 citations Open access
Semantic Scholar
Associations between perinatal risk and physical health in pre-adolescence in the Adolescent Brain Cognitive Development (ABCD) Study®: the unexpected relationship with sleep disruption
S. Adise, C. Palmer, C. Sheth, A. Marshall +25 more
2024Pediatric Research3 citations Open access
Semantic Scholar
A Comprehensive Overview of the Physical Health of the Adolescent Brain Cognitive Development Study (ABCD) Cohort at Baseline
C. Palmer, C. Sheth, A. Marshall, S. Adise +22 more
2021bioRxiv3 citations Open access
Semantic Scholar
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Lane Fitzsimmons, M. T. Acosta, David R. Adams, Ben Afzali +248 more
2025BioData Mining1 citations Open access
Semantic Scholar
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
J. Kyle, K. Stratton, Erika M. Zink, Young-Mo Kim +202 more
2021Scientific Data1 citations Open access
Semantic Scholar
Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network
Somin Hwang, Rachel Brown, D. Baldridge, Erin E. Baldwin +25 more
2026Genetics in Medicine0 citations Open access
Semantic Scholar
O38: Patient-centered, multidisciplinary, centralized, longitudinal clinical and genomic follow-up: Development and evaluation in the Undiagnosed Diseases Network (UDN)
E. Glanton, J. Brito, Kimberly Leblanc, Michele Herndon +6 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study
Lindsay Rosenfeld, Kimberly Leblanc, Anna Nagy, Jorick Bater +1 more
2025RARE0 citations
Semantic Scholar
P550: Assessing the value of rare disease research: A qualitative study of investigators’ perspectives
M. Henry, Kimberly Leblanc, F. Cole, Meghan C. Halley +1 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
Jinfeng Lu, Camilo Toro, David R. Adams, Maria T. Acosta +263 more
2024BMC Genomics0 citations Open access
Semantic Scholar
Understanding the Practice of Genetic Result Communication to Extended Family Members by Participants in the Undiagnosed Diseases Network (UDN)
C. Studwell, Kimberly Leblanc, Emily G. Kelley
20190 citations
Semantic Scholar
GeneHummus: A pipeline to define gene families and their expression in legumes and beyond
J. Die, Moamen M. Elmassry, Kimberly Leblanc, O. Awe +2 more
2018bioRxiv0 citations Open access
Semantic Scholar
Commonalities across computational workflows for uncovering Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases explanatory variants in undiagnosed cases
S. Kobren, Dustin Baldridge, Matt Velinder, J. Krier +19 more
0 citations
Semantic Scholar

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