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H. Stessman · SciRah

Researcher profile · Semantic Scholar

H. Stessman

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H. Stessman — researcher profile on SciRah

h-index: 27
Works: 63
Citations: 7,886

Most-cited papers

The contribution of de novo coding mutations to autism spectrum disorder
I. Iossifov, B. O'Roak, Stephan J Sanders, M. Ronemus +43 more
2014Nature2,511 citations Open access
Semantic Scholar
Disruptive CHD8 mutations define a subtype of autism early in development
R. Bernier, C. Golzio, Bo Xiong, H. Stessman +30 more
2014Cell769 citations Open access
Semantic Scholar
Excess of rare, inherited truncating mutations in autism
Niklas Krumm, Tychele N. Turner, C. Baker, L. Vives +9 more
2015Nature Genetics586 citations Open access
Semantic Scholar
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases
H. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang +49 more
2017Nature Genetics520 citations Open access
Semantic Scholar
De novo genic mutations among a Chinese autism spectrum disorder cohort
Tianyun Wang, Hui Guo, Bo Xiong, H. Stessman +25 more
2016Nature Communications361 citations Open access
Semantic Scholar
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
B. O'Roak, H. Stessman, E. Boyle, K. Witherspoon +9 more
2014Nature Communications342 citations Open access
Semantic Scholar
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Bradley P. Coe, H. Stessman, Arvis Sulovari, Madeleine R. Geisheker +7 more
2018Nature Genetics283 citations Open access
Semantic Scholar
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Tychele N. Turner, F. Hormozdiari, Michael H. Duyzend, S. Mcclymont +20 more
2016American Journal of Human Genetics274 citations Open access
Semantic Scholar
A Genotype-First Approach to Defining the Subtypes of a Complex Disease
H. Stessman, R. Bernier, E. E. Eichler
2014Cell218 citations Open access
Semantic Scholar
denovo-db: a compendium of human de novo variants
Tychele N. Turner, Q. Yi, Niklas Krumm, J. Huddleston +6 more
2016Nucleic Acids Res.195 citations Open access
Semantic Scholar
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more
2017American Journal of Human Genetics181 citations Open access
Semantic Scholar
Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains
Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe +36 more
2017Nature Neuroscience174 citations Open access
Semantic Scholar
The evolution and population diversity of human-specific segmental duplications
M. Dennis, Lana Harshman, Bradley J. Nelson, O. Penn +17 more
2017Nature Ecology &Evolution167 citations Open access
Semantic Scholar
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
H. Stessman, M. Willemsen, Michaela Fenckova, O. Penn +47 more
2016American Journal of Human Genetics159 citations Open access
Semantic Scholar
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
A. van Dijck, A. T. Vulto-van Silfhout, E. Cappuyns, I. M. van der Werf +99 more
2018Biological Psychiatry150 citations Open access
Semantic Scholar
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
X. Nuttle, G. Giannuzzi, Michael H. Duyzend, J. Schraiber +26 more
2016Nature130 citations Open access
Semantic Scholar
ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations
Dong-Hui Chen, A. Méneret, J. Friedman, Olena Korvatska +27 more
2015Neurology111 citations Open access
Semantic Scholar
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Hanyin Cheng, A. Dharmadhikari, Sylvia Varland, Ning Ma +68 more
2018American Journal of Human Genetics85 citations Open access
Semantic Scholar
Profiling Bortezomib Resistance Identifies Secondary Therapies in a Mouse Myeloma Model
H. Stessman, L. Baughn, A. Sarver, Tian Xia +10 more
2013Molecular Cancer Therapeutics81 citations Open access
Semantic Scholar
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics76 citations Open access
Semantic Scholar
Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors
A. Mitra, U. Mukherjee, T. Harding, J. S. Jang +7 more
2016Leukemia64 citations
Semantic Scholar
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, L. Gottlieb, E. Marchi, Robert Kleyner +25 more
2019Human Molecular Genetics62 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
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics52 citations Open access
Semantic Scholar
GluN2D subunit in parvalbumin interneurons regulates prefrontal cortex feed-forward inhibitory circuit and molecular networks relevant to schizophrenia
Dinesh Y. Gawande, K. Narasimhan, Gajanan P. Shelkar, Ratnamala Pavuluri +2 more
2023Biological Psychiatry34 citations Open access
Semantic Scholar
Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease
Rochelle N Wickramasekara, H. Stessman
2019Biology28 citations Open access
Semantic Scholar
ATF3 coordinates anti-tumor synergy between epigenetic drugs and protein disulfide isomerase inhibitors
Ravyn M. Duncan, Leticia Reyes, K. Moats, Reeder M. Robinson +4 more
2020Cancer Research27 citations Open access
Semantic Scholar
Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs)
Stuart Cantsilieris, H. Stessman, J. Shendure, E. Eichler
2017Methods in molecular biology25 citations
Semantic Scholar
Utilization of Translational Bioinformatics to Identify Novel Biomarkers of Bortezomib Resistance in Multiple Myeloma
Deanna J. Fall, H. Stessman, Sagar S. Patel, Z. Sachs +3 more
2014Journal of Cancer22 citations Open access
Semantic Scholar
Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism
C. Hudac, H. Stessman, Trent D DesChamps, Anna Kresse +5 more
2017Journal of Neurodevelopmental Disorders21 citations Open access
Semantic Scholar
Bortezomib Resistance Can Be Reversed by Induced Expression of Plasma Cell Maturation Markers in a Mouse In Vitro Model of Multiple Myeloma
H. Stessman, A. Mansoor, F. Zhan, M. Linden +2 more
2013PLoS ONE21 citations Open access
Semantic Scholar
Molecular subtyping and improved treatment of neurodevelopmental disease
H. Stessman, Tychele N. Turner, E. Eichler
2016Genome Medicine19 citations Open access
Semantic Scholar
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, L. Gottlieb, E. Marchi, Robert Kleyner +25 more
2020Human Molecular Genetics17 citations Open access
Semantic Scholar
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E. Sheppard, Laura M. Bryant, Rochelle N Wickramasekara, Courtney N Vaccaro +116 more
2023Science Advances11 citations Open access
Semantic Scholar
Differential effects by sex with Kmt5b loss.
Rochelle N Wickramasekara, Brynn Robertson, J. Hulen, J. Hallgren +1 more
2021Autism Research10 citations Open access
Semantic Scholar
KMT5B is required for early motor development
J. Hulen, D. Kenny, Rebecca Black, J. Hallgren +5 more
2022Frontiers in Genetics7 citations Open access
Semantic Scholar
Bovine HDL and Dual Domain HDL-Mimetic Peptides Inhibit Tumor Development in Mice
Feng Su, Anantharamaiah Gm, M. Palgunachari, C. White +7 more
2020Journal of Cancer Research and Therapeutic Oncology7 citations Open access
Semantic Scholar
Clinician, caregiver and patient perspectives of the continuum of care for autism
Kayla Pope, Joy D. Doll, A. Kyvelidou, H. Stessman +2 more
20207 citations
Semantic Scholar
Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir
J. G. Waes, M. V. van Waes, J. Hallgren, J. Hulen +5 more
2023Frontiers in Cell and Developmental Biology6 citations Open access
Semantic Scholar
DE NOVO GENIC MUTATIONS AMONG A CHINESE AUTISM SPECTRUM DISORDER COHORT
Tianyun Wang, Hui Guo, Bo Xiong, H. Stessman +2 more
20176 citations Open access
Semantic Scholar
Single-Cell Transcriptomics Identifies Intra-Tumor Heterogeneity in Human Myeloma Cell Lines
A. Mitra, H. Stessman, M. Linden, B. V. Van Ness
20146 citations
Semantic Scholar
Endometriosis: A Malignant Fingerprint.
Christopher A. DeAngelo, Megan E. Burnett Tarasiewicz, A. Strother, H. Taggart +39 more
2020Journal of Cancer Research and Therapeutic Oncology5 citations Open access
Semantic Scholar
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism
Kyleen Luhrs, Tracey Ward, C. Hudac, J. Gerdts +3 more
2017Autism Research and Treatment4 citations Open access
Semantic Scholar
Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity
Bradley P. Coe, H. Stessman, Arvis Sulovari, Madeleine R. Geisheker +2 more
2017bioRxiv4 citations Open access
Semantic Scholar
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate
A. Mitra, H. Stessman, R. Schaefer, Wen Wang +3 more
2016Frontiers in Genetics4 citations Open access
Semantic Scholar
Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400)
Brian T. Nguyen, N. Chapman, H. Stessman, S. Tracy +1 more
2023Microbiology Resource Announcements2 citations Open access
Semantic Scholar
Scattome: A Single-Cell Analysis of Targeted Transcriptome Program to Predict Drug Sensitivity of Single Cells within Human Myeloma Tumors
A. Mitra, U. Mukherjee, T. Harding, H. Stessman +5 more
20152 citations
Semantic Scholar
Tools and Technologies Pro fi ling Bortezomib Resistance Identi fi es Secondary Therapies in a Mouse Myeloma Model
H. Stessman, L. Baughn, A. Sarver, Tian Xia +10 more
20132 citations
Semantic Scholar
Strategies To Identify Effective Treatments For Proteasome Inhibitor Resistant Multiple Myeloma
H. Stessman, L. Baughn, A. Mansoor, A. Mitra +4 more
20132 citations
Semantic Scholar
Expression of Germinal Center B Cell Markers in Bortezomib-Resistant Multiple Myeloma Cells (127.11)
H. Stessman, L. Baughn, A. Mansoor, B. V. Van Ness
2011Journal of Immunology2 citations
Semantic Scholar

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