Search Results - "Applegate CD"

Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.

Authors: Wang DT Antonio-Aguirre B Ruggeri ML et al.

Source: Ophthalmology science [Ophthalmol Sci] 2026 May 08; Vol. 6 (7), pp. 101218. Date of Electronic Publication: 2026 May 08 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE

Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.

Authors: Schatz KS Applegate CD Belzberg AJ et al.

Source: Neurology. Genetics [Neurol Genet] 2026 Feb 02; Vol. 12 (1), pp. e200347. Date of Electronic Publication: 2026 Feb 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Assessing genetic counseling efficiency with natural language processing.

Authors: Nguyen MH Applegate CD Murray B et al.

Source: Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2026 Feb 01; Vol. 33 (2), pp. 295-303.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN: 1527-974X (Electronic) Linking ISSN: 10675027 NLM ISO Abbreviation: J Am Med Inform Assoc Subsets: MEDLINE

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Authors: Borroto MC Michaud C Hudon C et al.

Source: Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

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

Authors: Harris JR Gao CW Britton JF et al.

Source: Human genetics [Hum Genet] 2024 Apr; Vol. 143 (4), pp. 607-624. Date of Electronic Publication: 2023 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: ArXiv [ArXiv] 2025 Feb 10. Date of Electronic Publication: 2025 Feb 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

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

Authors: Applegate CD Schiettecatte F Hamosh A et al.

Source: Current protocols [Curr Protoc] 2022 Sep; Vol. 2 (9), pp. e530.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101773894 Publication Model: Print Cited Medium: Internet ISSN: 2691-1299 (Electronic) Linking ISSN: 26911299 NLM ISO Abbreviation: Curr Protoc Subsets: MEDLINE

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: Brain : a journal of neurology [Brain] 2020 Dec 05; Vol. 143 (11), pp. 3242-3261.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Short telomere syndromes cause a primary T cell immunodeficiency.

Authors: Wagner CL Hanumanthu VS Talbot CC Jr et al.

Source: The Journal of clinical investigation [J Clin Invest] 2018 Dec 03; Vol. 128 (12), pp. 5222-5234. Date of Electronic Publication: 2018 Oct 22.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

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

Authors: Stanley SE Gable DL Wagner CL et al.

Source: Science translational medicine [Sci Transl Med] 2016 Aug 10; Vol. 8 (351), pp. 351ra107.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

CRB1-Related Maculopathy With Cystoid Macular Edema.

Authors: Wolfson Y Applegate CD Strauss RW et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2015 Nov; Vol. 133 (11), pp. 1357-60.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

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

Authors: Harris HK Nakayama T Lai J et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Authors: Lemmon ME Lavenstein B Applegate CD et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2013 Dec; Vol. 28 (14), pp. 1937-8. Date of Electronic Publication: 2013 Oct 18.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

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

Authors: Fahrner JA Frazier A Bachir S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Jun; Vol. 158A (6), pp. 1414-21. Date of Electronic Publication: 2012 May 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Authors: Luperchio TR Applegate CD Bodamer O et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e1072. Date of Electronic Publication: 2019 Dec 08.

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease.

Authors: Kriscenski-Perry E Applegate CD Serour A et al.

Source: Epilepsia [Epilepsia] 2002 Oct; Vol. 43 (10), pp. 1137-40.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print Cited Medium: Print ISSN: 0013-9580 (Print) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

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

Authors: Fichtman B Harel T Biran N et al.

Source: American journal of human genetics [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 48-64. Date of Electronic Publication: 2019 Jun 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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

Authors: Pilarowski GO Vernon HJ Applegate CD et al.

Source: Journal of medical genetics [J Med Genet] 2018 Aug; Vol. 55 (8), pp. 561-566. Date of Electronic Publication: 2017 Sep 02.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

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

Authors: Alder JK Hanumanthu VS Strong MA et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Mar 06; Vol. 115 (10), pp. E2358-E2365. Date of Electronic Publication: 2018 Feb 20.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

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

Authors: Berrios C James CA Raraigh K et al.

Source: Journal of genetic counseling [J Genet Couns] 2018 Feb; Vol. 27 (1), pp. 263-273. Date of Electronic Publication: 2017 Sep 20.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE