Carolyn D. Applegate

发表

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

E. Kossoff, D. Batista, Carolyn D Applegate, 2014, Developmental medicine and child neurology.

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genetics in Medicine.

Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout

J. Amberger, A. Hamosh, F. Schiettecatte, 2022, Current protocols.

The impact of chromosomal microarray on clinical management: a retrospective analysis

J. Hoover-Fong, Elizabeth S Wohler, Molly B. Sheridan, 2014, Genetics in Medicine.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Sharyn A. Lincoln, W. Chung, M. Tarnopolsky, 2016, Human Genetics.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Joshua D. Podlevsky, S. E. Stanley, W. Gilbert, 2016, Science Translational Medicine.

High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti

T. Crawford, B. Cohen, M. Goldberg, 2015, Journal of child neurology.

Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease

Debra J. H. Mathews, D. Mathews, C. James, 2017, European Journal of Human Genetics.

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of Clinical Immunology.

Short telomere syndromes cause a primary T cell immunodeficiency

S. Desiderio, J. Siliciano, V. Hanumanthu, 2018, The Journal of clinical investigation.

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

M. Halushka, M. Gunay‐Aygun, Carolyn D Applegate, 2012, American Journal of Medical Genetics. Part A.

Diagnostic utility of telomere length testing in a hospital-based setting

Margaret A. Strong, Ludmila V. Danilova, S. E. Stanley, 2018, Proceedings of the National Academy of Sciences.

Diagnostic utility of telomere length measurement in a hospital setting

Margaret A. Strong, Ludmila V. Danilova, S. E. Stanley, 2017, bioRxiv.

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

K. Weiss, D. Batista, Carolyn D Applegate, 2015, American journal of medical genetics. Part A.

Ian C. Han, Y. Wolfson, H. Scholl, 2015, JAMA ophthalmology.

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

A. Hamosh, N. Sobreira, T. Harel, 2019, American journal of human genetics.

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

H. Bjornsson, J. A. Fahrner, Jacquelyn F Britton, 2023, Human genetics.

Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results

Carolyn D Applegate, K. Raraigh, C. Berrios, 2018, Journal of Genetic Counseling.

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

Carolyn D Applegate, H. Bjornsson, O. Bodamer, 2019, Molecular genetics & genomic medicine.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

J. Hoover-Fong, Elizabeth S Wohler, Molly B. Sheridan, 2015, Case reports in genetics.

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

T. Crawford, A. Hamosh, C. Stafstrom, 2016, Annals of neurology.

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective from the Pulmonary Fibrosis Foundation Genetic Testing Work Group.

M. Scholand, C. Garcia, Janet L. Talbert, 2022, Chest.

Elements of genetic counseling for inborn errors of metabolism

Natalie Beck, Carolyn D. Applegate, 2020 .

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of Clinical Immunology.

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

M. Halushka, M. Gunay‐Aygun, R. Thompson, 2012, American journal of medical genetics. Part A.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

S. Schwartz, A. Hamosh, P. Papenhausen, 2013, American journal of medical genetics. Part A.