Search Results - "Hurst ACE"

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Authors: El Hayek L Gogate A Chen WC et al.

Source: HGG advances [HGG Adv] 2026 Jul 09; Vol. 7 (3), pp. 100594. Date of Electronic Publication: 2026 Mar 26.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Authors: Awamleh Z Chen A Choufani S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102636. Date of Electronic Publication: 2026 Jun 19.

Publication Type: Journal Article

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

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Authors: Faraj R Farrugia A Hurst ACE et al.

Source: Human mutation [Hum Mutat] 2026 Apr 07; Vol. 2026, pp. 4732622. Date of Electronic Publication: 2026 Apr 07 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Authors: Gao M Chen Y Lertwilaiwittaya P et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Apr; Vol. 197 (4), pp. e63951. Date of Electronic Publication: 2024 Dec 02.

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

Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.

Authors: McBride A Cannon A Prakash S et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Apr; Vol. 45 (4), pp. 482-490. Date of Electronic Publication: 2025 Feb 15.

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

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.

Authors: Gordon ER Felker SA Coleman TF et al.

Source: Frontiers in genetics [Front Genet] 2024 Dec 16; Vol. 15, pp. 1435734. Date of Electronic Publication: 2024 Dec 16 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Listening to patients with suspected genetic diagnoses: A narrative perspective.

Authors: Slocum RB Hurst ACE Shelley E et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Nov; Vol. 196 (2-3), pp. e32079. Date of Electronic Publication: 2023 Dec 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE; In Process

Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands.

Authors: Bartos MN Hurst ACE Villa CA

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Nov; Vol. 196 (2-3), pp. e32108. Date of Electronic Publication: 2024 Aug 16.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE; In Process

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Authors: Rots D Jakub TE Keung C et al.

Corporate Authors: Rots D Jakub TE Keung C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2814. Date of Electronic Publication: 2025 Oct 18.

Publication Type: Published Erratum

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; In Process

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

Authors: Rudy NL Gomes A Tkemaladze T et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64171. Date of Electronic Publication: 2025 Jul 04.

Publication Type: 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

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Authors: Ha T Morgan A Bartos MN et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63559. Date of Electronic Publication: 2024 Feb 29.

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

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

Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.

Authors: Dickson A Cone KR Fortini BK et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2025 Oct; Vol. 27 (10), pp. 936-944. Date of Electronic Publication: 2025 Jul 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Palomaki GE Smith WE Bajaj K et al.

Corporate Authors: Palomaki GE Smith WE Bajaj K et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Sep; Vol. 27 (9), pp. 101505. Date of Electronic Publication: 2025 Aug 06.

Publication Type: Journal Article; Practice Guideline

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

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Authors: Kassabian B Levy AM Gardella E et al.

Source: Epilepsia [Epilepsia] 2024 Apr; Vol. 65 (4), pp. 1029-1045. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Multicenter Study; Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Authors: Herbst C Bothe V Wegler M et al.

Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.

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

A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.

Authors: Siebold D Denton J Hurst ACE et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 131-140. Date of Electronic Publication: 2023 Sep 26.

Publication Type: 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

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Authors: Gracia-Diaz C Zhou Y Yang Q et al.

Corporate Authors: Gracia-Diaz C Zhou Y Yang Q et al.

Source: Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

Authors: Lemke AA Thompson ML Gimpel EC et al.

Source: Journal of personalized medicine [J Pers Med] 2023 Jun 21; Vol. 13 (7). Date of Electronic Publication: 2023 Jun 21.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

Perspectives on the future of dysmorphology.

Authors: Solomon BD Adam MP Fong CT et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 659-671. Date of Electronic Publication: 2022 Dec 09.

Publication Type: Editorial; Research Support, N.I.H., Intramural

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

Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.

Authors: Gagnon C Hurst ACE Ashraf AP

Source: Hormone research in paediatrics [Horm Res Paediatr] 2023; Vol. 96 (4), pp. 439-445. Date of Electronic Publication: 2023 Jan 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE