Dinah Clark

发表

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

Zhe Zhang, Ryuichiro Nakato, Matthew C Dulik, 2015, Nature Genetics.

SMC1A expression and mechanism of pathogenicity in probands with X‐Linked Cornelia de Lange syndrome

I. Krantz, Zhe Zhang, Soma Das, 2009, Human mutation.

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Zhe Zhang, Katsuhiko Shirahige, Nancy B. Spinner, 2009, PLoS biology.

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

I. Krantz, M. Deardorff, L. Jackson, 2011, American journal of medical genetics. Part A.

SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation

Joseph T. Glessner, I. Krantz, T. Shaikh, 2011 .

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

I. Krantz, M. Deardorff, E. Goldmuntz, 2012, American journal of medical genetics. Part A.

Germline mosaicism in Cornelia de Lange syndrome

I. Krantz, T. Slavin, M. Nowaczyk, 2012, American journal of medical genetics. Part A.

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

I. Krantz, M. Deardorff, L. Jackson, 2011, American journal of medical genetics. Part A.

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Joseph T. Glessner, I. Krantz, N. Spinner, 2009, Human mutation.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20

I. Krantz, N. Spinner, H. Riethman, 2010, American journal of medical genetics. Part A.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Lange Syndrome-overlapping phenotypes

J. Ganesh, H. Hakonarson, Yiran Guo, 2014 .

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Genome-wide DNA methylation analysis in cohesin mutant human cell lines

I. Krantz, N. Spinner, Zhe Zhang, 2010, Nucleic acids research.

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

I. Krantz, M. Deardorff, L. Jackson, 2012, American journal of medical genetics. Part A.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

I. Krantz, H. Hakonarson, H. Rehm, 2013, American journal of medical genetics. Part A.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

PECONPI: A novel software for uncovering pathogenic copy number variations in non‐syndromic sensorineural hearing loss and other genetically heterogeneous disorders

Joseph T. Glessner, I. Krantz, N. Spinner, 2013, American journal of medical genetics. Part A.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Joseph T. Glessner, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

I. Krantz, R. Hennekam, M. Deardorff, 2011, European Journal of Human Genetics.

Phenotypes and genotypes in individuals with SMC1A variants

Saskia M. J. Hopman, I. Krantz, D. Horn, 2017, American journal of medical genetics. Part A.

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

I. Krantz, S. Levy, M. Deardorff, 2012, American journal of medical genetics. Part A.

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

I. Krantz, V. Siu, M. Deardorff, 2010, American journal of medical genetics. Part A.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.

I. Krantz, H. Hakonarson, M. Devoto, 2013, American journal of otolaryngology.

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.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

E. Zackai, I. Krantz, Zhe Zhang, 2015, Nature Genetics.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

I. Krantz, N. Spinner, J. Glessner, 2012, American journal of medical genetics. Part A.