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Christine E. Miller · SciRah

Researcher profile · Semantic Scholar

Christine E. Miller

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Christine E. Miller — researcher profile on SciRah

h-index: 12
Works: 27
Citations: 579

Most-cited papers

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing
Christine E. Miller, P. Krautscheid, Erin E. Baldwin, T. Tvrdik +3 more
2014American Journal of Medical Genetics. Part A131 citations
Semantic Scholar
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
Cecily Vaughn, Jorge Robles, J. Swensen, Christine E. Miller +4 more
2010Human Mutation90 citations Open access
Semantic Scholar
Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology.
M. Hegde, S. Bale, P. Bayrak-Toydemir, Jane S. Gibson +10 more
2015Journal of Molecular Diagnostics62 citations Open access
Semantic Scholar
Triplet repeat primed PCR simplifies testing for Huntington disease.
Mohamed A. Jama, A. Millson, Christine E. Miller, E. Lyon
2013Journal of Molecular Diagnostics56 citations Open access
Semantic Scholar
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret G Au, L. Basel-Salmon, P. Bayrak-Toydemir +17 more
2019Brain : a journal of neurology46 citations Open access
Semantic Scholar
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
L. Brunelli, S. M. Jenkins, J. Gudgeon, S. Bleyl +16 more
2019Molecular Genetics & Genomic Medicine37 citations Open access
Semantic Scholar
Prenatal diagnosis of 21‐hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions
R. Mao, L. Nelson, R. Kates, Christine E. Miller +3 more
2002Prenatal Diagnosis27 citations
Semantic Scholar
Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.
G. Pont-Kingdon, Mohamed A. Jama, Christine E. Miller, A. Millson +1 more
2004Journal of Molecular Diagnostics18 citations Open access
Semantic Scholar
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Hayley M. Reynolds, T. Wen, Andrew J. Farrell, R. Mao +15 more
2022Cold Spring Harbor molecular case studies14 citations Open access
Semantic Scholar
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine
L. Brunelli, R. Mao, S. M. Jenkins, S. Bleyl +9 more
2017American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations
A. M. Svensson, Lan-Szu Chou, Christine E. Miller, Jorge Robles +4 more
2010Genetic Testing and Molecular Biomarkers13 citations
Semantic Scholar
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics
Rachel N. Palmquist, S. M. Jenkins, Dawn Bentley, Christine E. Miller +14 more
2022Pediatric Research12 citations Open access
Semantic Scholar
Assessing clinical education tools for expanded carrier screening
C. Dugger, Hannah S. Anderson, Christine E. Miller, Bob Wong +2 more
2020Journal of Genetic Counseling11 citations Open access
Semantic Scholar
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database
R. Margraf, Rachel Z. Alexander, Makenzie L. Fulmer, Christine E. Miller +2 more
2022Human Mutation10 citations Open access
Semantic Scholar
Current challenges in cystic fibrosis screening.
E. Lyon, Christine E. Miller
2009Archives of Pathology & Laboratory Medicine10 citations
Semantic Scholar
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
Thomas J. Nicholas, Najla Al-Sweel, Andrew J. Farrell, R. Mao +23 more
2022Molecular Genetics & Genomic Medicine8 citations Open access
Semantic Scholar
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1
D. Melber, Tara S. Andreasen, R. Mao, T. Tvrdik +4 more
2018Clinical Case Reports7 citations Open access
Semantic Scholar
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants
J. Reiley, Pablo Botas, Christine E. Miller, Jian Zhao +6 more
2023Children5 citations Open access
Semantic Scholar
Implementation of a Cost-Effective Unlabeled Probe High-Resolution Melt Assay for Genotyping of Factor V Leiden
A. M. Svensson, Lan-Szu Chou, Cindy Meadows, Christine E. Miller +5 more
2011Genetic Testing and Molecular Biomarkers4 citations
Semantic Scholar
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine
Jordan S. Langford, Lana Vukadin, J. Carey, L. Botto +5 more
2023Neurology: Genetics3 citations Open access
Semantic Scholar
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
P. Ridge, Christine E. Miller, P. Bayrak-Toydemir, D. Best +4 more
2013Journal of Clinical Bioinformatics2 citations Open access
Semantic Scholar
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
Sabrina Malone-Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden +49 more
2025npj Genomic Medicine1 citations Open access
Semantic Scholar
P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Tingyu Wen, Hayley Reynolds, Andrew J. Farrell, B. Moore +15 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines
Thomas Nicholas, Andrew J. Farrell, Shawn Rynearson, C. Holt +18 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Development of a Clinical Trial Enrichment (CTE) Tool for Autosomal Dominant Polycystic Kidney Disease
Varun Aggarwal, S. Zaph, R. Leiser, Lauren Quinlan +8 more
2023Journal of the American Society of Nephrology0 citations
Semantic Scholar
The ongoing clinical testing of common MTHFR polymorphisms demonstrates the necessity of improved genetics-based continuing medical education among healthcare providers
Jessica Hidalgo, Christine E. Miller, Karin M. Dent, H. Underhill +1 more
20210 citations
Semantic Scholar
Reporting Incidental Findings in Genomic Scale Clinical SequencingdA Clinical Laboratory Perspective A Report of the Association for Molecular Pathology MadhuriHegde,* yz SherriBale,* x PinarBayrak-Toydemir,* {k JaneGibson,* , **LindaJoBoneJeng,* yy LorenJoseph,* zz JordanLaser,* xx
Christine E. Miller, Maryland Baltimore
20150 citations
Semantic Scholar

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R. Mao×11
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R. Mao — researcher profile on SciRah
P. Bayrak-Toydemir×11
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E. Lyon×7
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Rachel N. Palmquist

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Rachel N. Palmquist — researcher profile on SciRah

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