S. Raible

发表

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

I. Krantz, S. Raible, 2019 .

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.

E. Zackai, I. Krantz, B. Devkota, 2022, The Journal of pediatrics.

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

I. Krantz, L. Conlin, A. Wilkens, 2018, American journal of medical genetics. Part A.

A Centralized Approach for Practicing Genomic Medicine

I. Krantz, N. Spinner, B. Devkota, 2020, Pediatrics.

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, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

AICAR-mediated selection of karyotypically normal cells in Pallister-Killian syndrome patient-derived skin fibroblasts

I. Krantz, M. Kaur, D. McEldrew, 2022, bioRxiv.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

PALLISTER–KILLIAN SYNDROME

I. Krantz, S. Raible, E. Salzano, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Structural Analysis of Histone Deacetylase 8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders.

I. Krantz, M. Deardorff, D. Christianson, 2020, Journal of structural biology.

Expanding Genetic Counselor Roles: A Model for Global Research Development

E. Bedoukian, B. Keena, Jessica M. Long, 2024, Genes.