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N. Stong · SciRah

Researcher profile · Semantic Scholar

N. Stong

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N. Stong — researcher profile on SciRah

h-index: 34
Works: 80
Citations: 3,383

Most-cited papers

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
S. Petrovski, V. Aggarwal, J. Giordano, M. Stosic +18 more
2019The Lancet543 citations
Semantic Scholar
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-ouran, Yan-Hui Hu, Seon-Young Kim +180 more
2017American Journal of Human Genetics194 citations Open access
Semantic Scholar
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
R. Ramoni, J. Mulvihill, David R. Adams, Patrick Allard +175 more
2017American Journal of Human Genetics177 citations Open access
Semantic Scholar
A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection
Z. Deng, Zhuo Wang, N. Stong, Robert N. Plasschaert +8 more
2012EMBO Journal174 citations Open access
Semantic Scholar
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
V. Shashi, M. Magiera, D. Klein, M. Zaki +56 more
2018EMBO Journal118 citations Open access
Semantic Scholar
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Hsiao-Tuan Chao, M. Davids, Elizabeth A. Burke, J. Pappas +176 more
2017American Journal of Human Genetics111 citations Open access
Semantic Scholar
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
T. Sands, F. Miceli, G. Lesca, A. Beck +31 more
2019Annals of Neurology96 citations Open access
Semantic Scholar
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +39 more
2018American Journal of Human Genetics95 citations Open access
Semantic Scholar
Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigenetic stability
David M. Nelson, Farah Jaber-Hijazi, John J. Cole, N. Robertson +19 more
2016Genome Biology95 citations Open access
Semantic Scholar
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
M. Oláhová, W. Yoon, K. Thompson, S. Jangam +209 more
2018American Journal of Human Genetics91 citations Open access
Semantic Scholar
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
K. Machol, J. Rousseau, Sophie Ehresmann, T. Garcia +201 more
2019American Journal of Human Genetics86 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
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
V. Del Dotto, Farid Ullah, I. Di Meo, P. Magini +43 more
2019Journal of Clinical Investigation82 citations Open access
Semantic Scholar
A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
V. Shashi, K. Schoch, R. Spillmann, H. Cope +8 more
2018Genetics in Medicine74 citations Open access
Semantic Scholar
Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline
N. Stong, Z. Deng, Ravi Gupta, Sufen Hu +10 more
2014Genome Research70 citations Open access
Semantic Scholar
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu, K. Schoch, Xi Luo, Loren D. M. Pena +21 more
2018Human Molecular Genetics63 citations Open access
Semantic Scholar
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Candace T. Myers, N. Stong, Emily Mountier, K. Helbig +25 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres
Stephen P. Tutton, Greggory A. Azzam, N. Stong, O. Vladimirova +9 more
2015EMBO Journal60 citations Open access
Semantic Scholar
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
S. Berkovic, D. Goldstein, E. Heinzen, Brandon Laughlin +58 more
2019Epilepsia59 citations Open access
Semantic Scholar
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P. Hemati, Anya Revah-Politi, H. Bassan, S. Petrovski +48 more
2018American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
B. Cogné, Sophie Ehresmann, Éliane Beauregard-Lacroix, J. Rousseau +111 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
NBEA: developmental disease gene with early generalized epilepsy phenotypes
Maureen S. Mulhern, C. Stumpel, N. Stong, Han G. Brunner +47 more
2018Annals of Neurology53 citations Open access
Semantic Scholar
The location of the t(4;14) translocation breakpoint within the NSD2 gene identifies a subset of patients with high-risk NDMM
N. Stong, María Ortiz-Estévez, F. Towfic, M. Samur +6 more
2022Blood45 citations Open access
Semantic Scholar
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
K. Schoch, Linyan Meng, S. Szelinger, D. Bearden +36 more
2017American Journal of Human Genetics45 citations Open access
Semantic Scholar
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
L. Pena, Yong-Hui Jiang, K. Schoch, R. Spillmann +23 more
2017Genetics in Medicine43 citations Open access
Semantic Scholar
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
K. Schoch, Q. Tan, N. Stong, Kristen Deak +5 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +30 more
2017American Journal of Human Genetics40 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, G. Kupchik, B. Isidor, H. Kroes +41 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma
N. Ansari-Pour, M. Samur, Erin Flynt, S. Gooding +9 more
2022Blood37 citations Open access
Semantic Scholar
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Q. Tan, H. Cope, R. Spillmann, N. Stong +14 more
2018Cold Spring Harbor molecular case studies37 citations Open access
Semantic Scholar
Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science
K. Schoch, C. Esteves, A. Bican, R. Spillmann +27 more
2020Genetics in Medicine36 citations Open access
Semantic Scholar
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, H. Sticht, P. Zacher, B. Popp +54 more
2020Genetics in Medicine35 citations Open access
Semantic Scholar
Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance
T. J. Hayeck, N. Stong, Charles J. Wolock, Brett R. Copeland +3 more
2018bioRxiv35 citations Open access
Semantic Scholar
CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity
M. Ernst, E. Baugh, Amanda L Thomas, Louise Bier +53 more
2021Epilepsia30 citations Open access
Semantic Scholar
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
Charles J. Wolock, N. Stong, Chuan-Juan Ma, T. Nagasaki +5 more
2019Genetics in Medicine30 citations Open access
Semantic Scholar
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
E. Padhi, T. J. Hayeck, Zhang Cheng, S. Chatterjee +31 more
2021Human Genomics28 citations Open access
Semantic Scholar
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
S. Hiatt, M. Neu, R. Ramaker, Andrew A. Hardigan +29 more
2018bioRxiv26 citations Open access
Semantic Scholar
Heterozygous Variants in MYBPC1 are Associated with an Expanded Neuromuscular Phenotype beyond Arthrogryposis
V. Shashi, Janelle Geist, Youngha Lee, Y. Yoo +12 more
2019Human Mutation25 citations Open access
Semantic Scholar
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
T. Cassini, L. Duncan, Lynette C. Rives, J. Newman +177 more
2019Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
Modification of the PROM1 Disease Phenotype by a Mutation in ABCA4
Winston Lee, Maarjaliis Paavo, J. Zernant, N. Stong +6 more
2019Ophthalmic Genetics21 citations Open access
Semantic Scholar
Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.
Xi Luo, K. Schoch, S. Jangam, V. H. Bhavana +11 more
2021Human Molecular Genetics20 citations Open access
Semantic Scholar
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
B. Bowles, A. Ferrer, C. Nishimura, F. Vairo +27 more
2021American Journal of Medical Genetics. Part A19 citations Open access
Semantic Scholar
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline M. Dias, R. Pfundt, T. Kleefstra, Janneke Shuurs-Hoeijmakers +25 more
2021American Journal of Medical Genetics. Part A18 citations Open access
Semantic Scholar
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +39 more
2018American Journal of Human Genetics17 citations Open access
Semantic Scholar
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
J. Sullivan, N. Stong, E. Baugh, M. McDonald +2 more
2020American Journal of Medical Genetics. Part A15 citations
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
Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1
Chuan-Juan Ma, Winston Lee, N. Stong, J. Zernant +4 more
2019Cold Spring Harbor molecular case studies14 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L. Ritter, J. Gold, Hiroshi Hayashi, Amanda M. Ackermann +38 more
2022Genetics in 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

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