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Ian D. Krantz · SciRah

Researcher profile · Semantic Scholar

Ian D. Krantz

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Ian D. Krantz — researcher profile on SciRah

h-index: 55
Works: 235
Citations: 19K

Most-cited papers

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
E. Aref-Eshghi, E. Bend, S. Colaiacovo, Michelle Caudle +23 more
2019American Journal of Human Genetics176 citations Open access
Semantic Scholar
International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium
G. Brat, G. Weber, Nils Gehlenborg, P. Avillach +83 more
2020npj Digital Medicine173 citations Open access
Semantic Scholar
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Ian D. Krantz, L. Medne, Jamila Weatherly, K. Wild +39 more
2021JAMA pediatrics163 citations Open access
Semantic Scholar
A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing
P. Han, K. L. Umstead, B. Bernhardt, R. Green +6 more
2017Genetics in Medicine115 citations Open access
Semantic Scholar
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
I. Helbig, T. López-Hernández, O. Shor, P. Galer +75 more
2019American Journal of Human Genetics112 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 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
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W. Baker, J. Murrell, A. Nesbitt, Kieran B. Pechter +23 more
2019Journal of Molecular Diagnostics84 citations Open access
Semantic Scholar
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Michael D. Fountain, D. Oleson, M. Rech, Lara Segebrecht +52 more
2019Genetics in Medicine75 citations Open access
Semantic Scholar
Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: An international multi-centre observational cohort study
Byorn W. L. Tan, B. Tan, Amelia L. M. Tan, Emily R. Schriver +255 more
2022EClinicalMedicine67 citations Open access
Semantic Scholar
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
Genay O. Pilarowski, H. Vernon, C. Applegate, Leandros Boukas +15 more
2017Journal of Medical Genetics60 citations Open access
Semantic Scholar
ESRP1 mutations cause hearing loss due to defects in alternative splicing that disrupt cochlear development
Alex M. Rohacek, T. Bebee, Richard K. Tilton, Caleb M. Radens +11 more
2017Developmental Cell51 citations Open access
Semantic Scholar
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
S. Cuinat, M. Nizon, B. Isidor, A. Stegmann +47 more
2022Genetics in Medicine50 citations Open access
Semantic Scholar
Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
Felix D. Weiss, Lesly Calderón, Yi-Fang Wang, R. Georgieva +8 more
2021Nature Communications48 citations Open access
Semantic Scholar
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
S. Sheppard, Sawona Biswas, Mindy H. Li, V. Jayaraman +22 more
2018Genetics in Medicine47 citations Open access
Semantic Scholar
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
L. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer +68 more
2020American Journal of Human Genetics46 citations Open access
Semantic Scholar
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy
R. Ahrens-Nicklas, C. T. Pappas, Gerrie P. Farman, Rachel M. Mayfield +10 more
2019Science Advances46 citations Open access
Semantic Scholar
Genomic Analyses in Cornelia de Lange Syndrome and Related Diagnoses: Novel Candidate Genes, Genotype-Phenotype Correlations and Common Mechanisms
M. Kaur, J. Blair, B. Devkota, Sierra Fortunato +93 more
2023American Journal of Medical Genetics. Part A43 citations Open access
Semantic Scholar
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
Stefan Rentas, K. Rathi, M. Kaur, P. Raman +3 more
2019Genetics in Medicine43 citations Open access
Semantic Scholar
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
S. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka +29 more
2023JCI Insight42 citations Open access
Semantic Scholar
The Genomics Research and Innovation Network Creating an Interoperable, Federated, Genomics Learning System
K. Mandl, Tracy Glauser, Ian D. Krantz, P. Avillach +28 more
2019Genetics in Medicine40 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
J. Mills, Pamela S Herrera, M. Kaur, L. Leo +7 more
2018Scientific Reports40 citations Open access
Semantic Scholar
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
M. Patel, Marina T. DiStefano, A. Oza, Madeline Y. Hughes +47 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss
Qiao-Ning Guan, J. Balciuniene, Ka-Jia Cao, Zhiqian Fan +14 more
2018Genetics in Medicine35 citations Open access
Semantic Scholar
EPHB4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report
Jia-De Yu, Jenna L. Streicher, L. Medne, Ian D. Krantz +1 more
2017Pediatric dermatology35 citations
Semantic Scholar
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
S. Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans +21 more
2022Brain : a journal of neurology34 citations Open access
Semantic Scholar
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients
Jennifer L. Cohen, S. S. Schrier Vergano, Sarah Mazzola, A. Strong +13 more
2020American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, J. P. Yeager, Priya Prasad, N. Dorrani +115 more
2020American Journal of Human Genetics32 citations Open access
Semantic Scholar
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Kristin Gibson, A. Nesbitt, Ka-Jia Cao, Zhen-Ming Yu +23 more
2017Genetics in Medicine32 citations Open access
Semantic Scholar
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
V. Okur, M. Cho, R. van Wijk, B. V. van Oirschot +19 more
2019European Journal of Human Genetics31 citations Open access
Semantic Scholar
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Alexandria T. M. Blackburn, N. Bekheirnia, Vanessa C. Uma, Mark E. Corkins +25 more
2019Genetics in Medicine29 citations Open access
Semantic Scholar
Clinical and molecular spectrum of CHOPS syndrome
S. Raible, D. Mehta, Chiara Bettale, Sarah K Fiordaliso +23 more
2019American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
Alyssa L. Ritter, Carey Mcdougall, Cara M Skraban, L. Medne +14 more
2018American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Characterization of limb differences in children with Cornelia de Lange Syndrome
D. Mehta, S. S. Schrier Vergano, M. Deardorff, Sarika Aggarwal +7 more
2016American Journal of Medical Genetics. Part C, Seminars in Medical Genetics29 citations
Semantic Scholar
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
R. Rajagopalan, Melissa A. Gilbert, D. McEldrew, James A. Nassur +5 more
2020Genetics in Medicine28 citations Open access
Semantic Scholar
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo
Dubravka Cukrov, Trent A. C. Newman, M. Leask, Bryony Leeke +6 more
2018Human Molecular Genetics28 citations Open access
Semantic Scholar
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
Edward J. Romasko, B. Devkota, Sawona Biswas, V. Jayaraman +10 more
2017American journal of hematology/oncology28 citations Open access
Semantic Scholar
Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
E. Salzano, S. Raible, M. Kaur, A. Wilkens +12 more
2018American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes
Emma A. Schindler, Melissa A. Gilbert, D. Piccoli, N. Spinner +2 more
2020American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, A. Bouman, L. Briere, R. Hoogenboezem +34 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
The Genomics of Congenital Diaphragmatic Hernia: A 10 Year Retrospective Review.
K. Wild, Erica M. Schindewolf, H. Hedrick, Natalie E. Rintoul +5 more
2022Jornal de Pediatria21 citations
Semantic Scholar
Clinical Utility of Exome Sequencing in Infantile Heart Failure
Alyssa L. Ritter, E. Bedoukian, Justin H. Berger, Deborah Copenheaver +11 more
2019Genetics in Medicine21 citations Open access
Semantic Scholar
Audiologic Phenotype and Progression in Pediatric STRC‐Related Autosomal Recessive Hearing Loss
Andrea M Simi, Julia Perry, Emma A. Schindler, A. Oza +6 more
2021The Laryngoscope17 citations
Semantic Scholar
Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations
Katheryn L. Grand, Christina X Gonzalez-Gandolfi, Amanda M. Ackermann, D. Aljeaid +19 more
2019American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
Chao Wu, B. Devkota, Perry Evans, Xiao-Nan Zhao +13 more
2018European Journal of Human Genetics17 citations Open access
Semantic Scholar
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
James M. Havrilla, Anbumalar Singaravelu, D. Driscoll, Leonard Minkovsky +5 more
2022BMC Medical Informatics and Decision Making16 citations Open access
Semantic Scholar
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Kristin Gibson, A. Nesbitt, Ka-Jia Cao, Zhen-Ming Yu +23 more
2018Genetics in Medicine15 citations Open access
Semantic Scholar
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto, J. Balciuniene, T. Hartman, M. A. Diaz-miranda +23 more
2023Jornal de Pediatria14 citations
Semantic Scholar
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4
Sarah R. van der Ende, Benjamin S. Meyers, Jenina E. Capasso, M. Sasongko +9 more
2022JAMA ophthalmology11 citations Open access
Semantic Scholar

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