Publications by authors named "Ian D Krantz"

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Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
Stefan Rentas, Ramakrishnan Rajagopalan, Tolga Ayazseven, Mahdi Sarmady, Sarah E Raible, Ian D Krantz

Hum Mutat· December 2025

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p300 inhibition delays premature cellular senescence.
Elisabetta Di Fede, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Silvia Ancona, Ian Daniel Krantz

NPJ Aging· July 2025

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CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.
Ruofan Yu, Shelby Roseman, Allison P Siegenfeld, Zachary Gardner, Son C Nguyen, Ian D Krantz

Nat Struct Mol Biol· June 2025

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A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.
Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D Krantz, Masashige Bando

Curr Biol· March 2025

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Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.
Maddalena Di Nardo, Ian D Krantz, Antonio Musio

Cells· December 2024

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Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.
K Taylor Wild, Laura Conlin, Justin Blair, Michael Manfredi, Thomas E Hamilton, Ian D Krantz

J Pediatr· August 2024

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Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline.
Keren Cheng, Yasunari Seita, Eoin C Whelan, Ryo Yokomizo, Young Sun Hwang, Ian D Krantz

Cell Rep· June 2024

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Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Emma Lo, Justin Blair, Nobuko Yamamoto, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Ian D Krantz

Am J Med Genet A· May 2024

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GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.
Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Ian D Krantz

ArXiv· April 2024

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Ian D Krantz

J Pediatr· November 2023

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CTCF/cohesin organize the ground state of chromatin-nuclear speckle association.
Ruofan Yu, Shelby Roseman, Allison P Siegenfeld, Son C Nguyen, Eric F Joyce, Ian D Krantz

bioRxiv· October 2023

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Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Kelly E Regan-Fendt, Alyssa L Rippert, Livija Medne, Cara M Skraban, Jeshua DeJesse, Ian D Krantz

Am J Med Genet A· August 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Ian D Krantz

Am J Med Genet A· August 2023

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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sarah E Sheppard, Michael E March, Christoph Seiler, Leticia S Matsuoka, Sophia E Kim, Ian D Krantz

JCI Insight· May 2023

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Ocular Biomarkers of Riboflavin Transporter Deficiency.
Sabrina Bulas, Emma C Bedoukian, Erin C O'Neil, Ian D Krantz, Sabrina W Yum

J Neuroophthalmol· March 2023

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Improved management through a better understanding of mortality risk and causes in inborn errors of metabolism.
Ian D Krantz

J Pediatr· January 2023

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R Hartman, Christopher Griffith, Ian D Krantz

Hum Mutat· December 2022

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The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review.
K Taylor Wild, Erica Schindewolf, Holly L Hedrick, Natalie E Rintoul, Tiffiney Hartman, Ian D Krantz

J Pediatr· September 2022

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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, Mario Sasongko, Yoshihiro Yonekawa, Ian D Krantz

JAMA Ophthalmol· September 2022

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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Ian D Krantz

Genet Med· August 2022

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Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
Olivia L Katz, K Taylor Wild, Deborah McEldrew, Maninder Kaur, Sarah Raible, Ian D Krantz

J Pediatr· July 2022

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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Katherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, Erin Y Chen, Jessica R C Priestley, Ian D Krantz

Pediatrics· July 2022

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50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.
Louise C Pyle, Jacqueline M M Leonard, Ian D Krantz

J Pediatr· April 2022

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50 Years Ago in TheJournalofPediatrics: What's In a Name: Lessons Learned from Atypical Malformation Syndromes.
Jessica R C Priestley, Ian D Krantz

J Pediatr· February 2022

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