Search Results - "Madeo AC"

An exploratory mixed-methods study using the ELICIT framework to identify stakeholder-informed implementation strategies for a population health platform.

Authors: Madeo AC Marable J Kukhareva P et al.

Source: BMC health services research [BMC Health Serv Res] 2026 May 25. Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088677 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6963 (Electronic) Linking ISSN: 14726963 NLM ISO Abbreviation: BMC Health Serv Res Subsets: MEDLINE

Precision Medicine in Rural Settings: Patient Perspectives on Clinician-Ordered Genetic Testing.

Authors: Madeo AC Kaphingst KA Yack M et al.

Source: Research square [Res Sq] 2026 Apr 14. Date of Electronic Publication: 2026 Apr 14.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Clinical and genetic insights into hearing loss in Turner syndrome: a study from an Egyptian cohort.

Authors: Hassaan, Hebatallah M ElGindy, Hala A EL Hamamsy, Kariman et al.

Source: Egyptian Pediatric Association Gazette. 12/19/2025, Vol. 73 Issue 1, p1-5. 5p.

Prevalence of clinician-ordered genetic testing in rural and urban United States counties: An analysis of the 2022 Health Information National Trends Survey.

Authors: Madeo AC Bouldin ED Kaphingst KA et al.

Source: Preventive medicine reports [Prev Med Rep] 2025 Jul 10; Vol. 57, pp. 103163. Date of Electronic Publication: 2025 Jul 10 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101643766 Publication Model: eCollection Cited Medium: Print ISSN: 2211-3355 (Print) Linking ISSN: 22113355 NLM ISO Abbreviation: Prev Med Rep Subsets: PubMed not MEDLINE

The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.

Authors: Nonarath, Hannah J. T. Simpson, Samantha L. Slobodianuk, Tricia L. et al.

Source: PLoS Genetics. 3/11/2025, Vol. 21 Issue 3, p1-31. 31p.

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.

Authors: Xue, Junfang Xie, Linyi Zheng, Qiuchen et al.

Source: BMC Medical Genomics. 10/4/2024, Vol. 17 Issue 1, p1-9. 9p.

Women's preferences for genetic screening in routine care: A qualitative study.

Authors: Madeo AC Kohlmann W Liao Y et al.

Source: Patient education and counseling [Patient Educ Couns] 2025 Jan; Vol. 130, pp. 108439. Date of Electronic Publication: 2024 Sep 15.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Ireland NLM ID: 8406280 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5134 (Electronic) Linking ISSN: 07383991 NLM ISO Abbreviation: Patient Educ Couns Subsets: MEDLINE

A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss.

Authors: Sadeghian, Ladan Hoseinzadeh, Marziyeh Pourreza, Mohammad reza et al.

Source: Egyptian Journal of Medical Human Genetics. 6/15/2025, Vol. 26 Issue 1, p1-8. 8p.

Correlation Between Air–Bone Gap and Vestibular Aqueduct Size in Enlarged Vestibular Aqueduct Syndrome: A Systematic Review.

Authors: Avallone, Emilio De Luca, Pietro Viola, Pasquale et al.

Source: Indian Journal of Otolaryngology & Head & Neck Surgery (Springer Nature). Sep2023, Vol. 75 Issue 3, p2681-2687. 7p.

A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.

Authors: Zheng, Chuanzhen Ren, Xinjun Xing, Dongjun et al.

Source: Ophthalmic Genetics. Oct2020, Vol. 41 Issue 5, p501-504. 4p.

Down Syndrome: how to communicate the diagnosis.

Authors: Gori, Caterina Cocchi, Guido Corvaglia, Luigi Tommaso et al.

Source: Italian Journal of Pediatrics. 2/9/2023, Vol. 49 Issue 1, p1-8. 8p.

Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team.

Authors: Simonovic, Nicolle Taber, Jennifer M. Scherr, Courtney L. et al.

Source: Journal of Behavioral Medicine. Aug2023, Vol. 46 Issue 4, p541-555. 15p. 4 Charts.

Subjects: Health facilities, Uncertainty, Medical care, Decision making, Health care teams, Communication, Alcohol drinking

Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss.

Authors: Jia, Fengfeng Wang, Fang Li, Song et al.

Source: BMC Medical Genomics. 1/14/2025, Vol. 18 Issue 1, p1-11. 11p.

Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.

Authors: Yu Ruan Cheng Wen Xiaohua Cheng et al.

Source: BioScience Trends. Aug2024, Vol. 18 Issue 4, p303-314. 12p.

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.

Authors: Wu, Ting Cui, Limei Mou, Yakui et al.

Source: BMC Medical Genomics. 3/7/2022, Vol. 15 Issue 1, p1-9. 9p.

Atypical and ultra-rare Usher syndrome: a review.

Authors: Nolen, Rosalie M. Hufnagel, Robert B. Friedman, Thomas B. et al.

Source: Ophthalmic Genetics. Oct2020, Vol. 41 Issue 5, p401-412. 12p.

Parental health spillover effects of paediatric rare genetic conditions.

Authors: Wu, You Al-Janabi, Hareth Mallett, Andrew et al.

Source: Quality of Life Research. Sep2020, Vol. 29 Issue 9, p2445-2454. 10p. 1 Diagram, 4 Charts.

Subjects: Australians, Caregivers, Rare diseases, Genetic disorders, Family history (Medicine)

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.

Authors: Ying Lin Feng Yu Yuelong Jiao et al.

Source: Journal of International Advanced Otology. Aug2019, Vol. 15 Issue 2, p247-252. 6p.

COCHLEAR IMPLANTATION IN CHILDREN WITH ENLARGED VESTIBULAR AQUEDUCT (EVA): RELATIONSHIP TO PENDRED SYNDROME DIAGNOSIS, SURGICAL OUTCOMES, AND RADIOLOGICAL FINDINGS.

Alternate Title: PROCEDURA WSZCZEPIANIA IMPLANTÓW ŚLIMAKOWYCH U DZIECI Z POSZERZONYM WODOCIĄGIEM PRZEDSIONKA (EVA): ZWIĄZEK Z ROZPOZNANIEM ZESPOŁU PENDREDA, PRZEBIEGIEM LECZENIA CHIRURGICZNEGO I WYNIKAMI BADAŃ RADIOLOGICZNYCH.

Authors: Remjasz-Jurek, Agnieszka Clarós, Pedro Clarós-Pujol, Astrid et al.

Source: Journal of Hearing Science. Jun2023, Vol. 13 Issue 2, p29-48. 20p.

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Authors: Choi BY Madeo AC King KA et al.

Source: Journal of medical genetics [J Med Genet] 2009 Dec; Vol. 46 (12), pp. 856-61. Date of Electronic Publication: 2009 Jul 02.

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

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