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A. Slavotinek · SciRah

Researcher profile · Semantic Scholar

A. Slavotinek

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A. Slavotinek — researcher profile on SciRah

h-index: 56
Works: 399
Citations: 11K

Most-cited papers

A dyadic approach to the delineation of diagnostic entities in clinical genomics.
L. Biesecker, M. Adam, F. Alkuraya, A. Amemiya +43 more
2021American Journal of Human Genetics89 citations Open access
Semantic Scholar
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
A. Slavotinek, Shannon Rego, Nuriye N Sahin-Hodoglugil, M. Kvale +34 more
2023npj Genomic Medicine45 citations Open access
Semantic Scholar
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
W. Feero, Robert D. Steiner, A. Slavotinek, Tiago Faial +5 more
2024Nature Genetics42 citations
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome
Fu-Ying Chen, C. Ni, Xiao-Xiao Wang, R. Cheng +17 more
2022EMBO Molecular Medicine27 citations Open access
Semantic Scholar
New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder
J. Szot, A. Slavotinek, K. Chong, O. Brandau +24 more
2021Human Mutation27 citations Open access
Semantic Scholar
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
R. Truty, S. Rojahn, Karen Ouyang, C. Kautzer +12 more
2023American Journal of Human Genetics25 citations Open access
Semantic Scholar
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Y. Mavura, Nuriye N Sahin-Hodoglugil, U. Hodoglugil, M. Kvale +9 more
2024npj Genomic Medicine22 citations Open access
Semantic Scholar
Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment
M. Brin, R. Kirby, A. Slavotinek, A. Adams +6 more
2023Neurology21 citations Open access
Semantic Scholar
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
K. Smallwood, Kristin E. N. Watt, Satoru Ide, Kristina Baltrunaite +41 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease
A. Slavotinek, M. L. Thompson, Lisa J. Martin, B. Gelb
2024HGG advances17 citations Open access
Semantic Scholar
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
W. Feero, Robert D. Steiner, A. Slavotinek, Tiago Faial +5 more
2024American Journal of Human Genetics15 citations Open access
Semantic Scholar
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Giulia Fasano, V. Muto, F. Radio, Martina Venditti +34 more
2022Nature Communications15 citations Open access
Semantic Scholar
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
K. Bowling, M. Thompson, M. Kelly, S. Scollon +9 more
2022Genome Medicine15 citations Open access
Semantic Scholar
Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy
V. Trivedi, A. Magnusen, R. Rani, L. Marsili +5 more
2022International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies
Hannah Kortbawi, Elizabeth G. Ames, A. Pritchard, P. Devine +2 more
2022American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update.
Faan Fana Mitchell F. Brin, Russell S. Kirby Fahs, A. Slavotinek, A. Adams +6 more
2025Neurology13 citations
Semantic Scholar
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods
B. Ferket, Z. Baldwin, Priyanka Murali, Akila Pai +11 more
2022Genetics in Medicine13 citations Open access
Semantic Scholar
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing
H. Smith, B. Ferket, B. Gelb, L. Hindorff +7 more
2023Pediatrics12 citations Open access
Semantic Scholar
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, C. Carlston, Laura E R Blok, Lachlan de Hayr +41 more
2022Genetics in Medicine11 citations Open access
Semantic Scholar
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Priyanshu Srivastava, J. Tenney, M. Lodish, A. Slavotinek +1 more
2022Journal of Pediatric Urology11 citations Open access
Semantic Scholar
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
Michelle Adutwum, A. Hurst, G. Mirzaa, Jessica D. Kushner +8 more
2022Clinical Genetics11 citations
Semantic Scholar
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
A. Peron, F. D'Arco, K. Aldinger, C. Smith-Hicks +68 more
2024European Journal of Human Genetics10 citations Open access
Semantic Scholar
Predicting genes from phenotypes using human phenotype ontology (HPO) terms
A. Slavotinek, Hannah Prasad, Tiffany Yip, Shannon Rego +2 more
2022Human Genetics10 citations
Semantic Scholar
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Shannon Rego, Hannah Hoban, S. Outram, Astrid N. Zamora +11 more
2022Genetics in Medicine10 citations Open access
Semantic Scholar
Retinopathy and Optic Atrophy in a Case of COQ2-related Primary Coenzyme Q10 Deficiency
Jeannette Y. Stallworth, David R. Blair, A. Slavotinek, A. Moore +2 more
2022Ophthalmic Genetics9 citations Open access
Semantic Scholar
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
T. Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty +28 more
2024American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
K. Riedhammer, A. Burgemeister, Vincent Cantagrel, J. Amiel +17 more
2022Human Molecular Genetics8 citations Open access
Semantic Scholar
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results
Kate Swanson, U. Hodoglugil, T. Sparks, B. Lianoglou +2 more
2025Prenatal Diagnosis7 citations Open access
Semantic Scholar
TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy
Monica Penon-Portmann, U. Hodoglugil, Wiita Arun P, Tiffany Yip +2 more
2022American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results
Barbara Biesecker, Sara L. Ackerman, Kyle B. Brothers, K. East +15 more
2025Genetics in Medicine6 citations Open access
Semantic Scholar
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.
W. Feero, Robert D. Steiner, A. Slavotinek, Tiago Faial +5 more
2024Genetics in Medicine6 citations Open access
Semantic Scholar
Monoallelic Loss of Function BMP2 Variants Result in BMP2-Related Skeletal Dysplasia Spectrum.
J. Priestley, A. Deshwar, Harsha R. Murthy, M. D’Agostino +20 more
2023Genetics in Medicine6 citations
Semantic Scholar
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype
Carolina I Galarreta, Colleen Kennedy, David R. Blair, A. Slavotinek
2022American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116
Jannis Buecking, Yu An, W. Bi, K. Hinderhofer +3 more
2025American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
W. Feero, Robert D. Steiner, A. Slavotinek, Tiago Faial +5 more
2024HGG advances4 citations Open access
Semantic Scholar
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
Balram Gangaram, W. Devine, A. Slavotinek
2022European Journal of Medical Genetics4 citations Open access
Semantic Scholar
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing
Kristen M. Wigby, M. Hammer, M. Tokita, Priyanka C Patel +18 more
2023American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Deep phenotyping expands our knowledge of fetal manifestations of genetic disease
T. Sparks, B. Lianoglou, N. Hodoglugil, Kate Swanson +6 more
2023American Journal of Obstetrics and Gynecology3 citations
Semantic Scholar
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
C. Bergès, Clément Sauvestre, Sophie Naudion, C. Delorme +27 more
2026Clinical Genetics2 citations Open access
Semantic Scholar
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation
Hannah R Chang, Megan Bannon, C. Opper, A. Slavotinek +7 more
2025Pediatric dermatology2 citations
Semantic Scholar
Satisfaction with Mode of Delivery of Genomic Sequencing Results in a Diverse National Sample of Research Participants through the Clinical Sequencing Evidence-Generating Research Consortium.
S. Scollon, Jill O. Robinson, Eunji Jo, Sabrina A. Suckiel +6 more
2024Genetics in Medicine2 citations
Semantic Scholar
Embracing the Science of Motherhood: Pregnancy's Transformative Effects on the Central Nervous System and the Radiance of Maternal Hormones and Immune Responses.
L. Marsili, A. Magnusen, V. Trivedi, A. Slavotinek +1 more
2023Discover medicine2 citations
Semantic Scholar
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Dima Qu’d, Lauren M. Schmitt, Amber Leston, J. Harris +4 more
2023Frontiers in Genetics2 citations Open access
Semantic Scholar
Impact of the COVID‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees
J. Chenbhanich, A. Slavotinek, Allison Tam
2022American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome
Monica Penon-Portmann, C. Carlston, P.-M. Martin, A. Slavotinek
2022Molecular Syndromology2 citations Open access
Semantic Scholar
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder
Ria Garg, C. Badduke, A. Slavotinek
2022Genetics in Medicine2 citations Open access
Semantic Scholar
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma
Emily W Modlin, A. Slavotinek, T. Darling, S. Lipkowitz +4 more
2022American Journal of Medical Genetics. Part A2 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
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.
V. Muto, Giulia Fasano, F. Radio, Catia Pedalino +20 more
2026European Journal of Human Genetics1 citations Open access
Semantic Scholar

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