Research & Literature

Pediatric cochlear implantation in residual hearing candidates.

Gratacap M, Thierry B, Rouillon I, et al.

The Annals of otology, rhinology, and laryngology 2015; (124(6)):443-51 doi:10.1177/0003489414566121.

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.

Iwanicka-Pronicka K, Pollak A, Skórka A, et al.

Medical science monitor : international medical journal of experimental and clinical research 2015; (21()):694-700 doi:10.12659/MSM.890965.

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

Choi HS, Kim AR, Kim SH, Choi BY

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016; (273(5)):1123-9 doi:10.1007/s00405-015-3661-2.

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.

Shearer AE, Smith RJ

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2015; (153(2)):175-82 doi:10.1177/0194599815591156.

Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.

Edwards NC, Moody WE, Yuan M, et al.

Orphanet journal of rare diseases 2015; (10()):83 doi:10.1186/s13023-015-0292-z.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

van Beelen E, Oonk AM, Leijendeckers JM, et al.

Ear and hearing 2016; (37(1)):103-11 doi:10.1097/AUD.0000000000000217.

Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure.

Wu SP, Kao CY, Wang L, et al.

Nature communications 2015; (6()):8245 doi:10.1038/ncomms9245.

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias.

Spezzacatene A, Sinagra G, Merlo M, et al.

Journal of the American Heart Association 2015; (4(10)):e002149.

Eya4 Induces Hypertrophy via Regulation of p27kip1.

Williams T, Hundertmark M, Nordbeck P, et al.

Circulation. Cardiovascular genetics 2015; (8(6)):752-64 doi:10.1161/CIRCGENETICS.115.001134.

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Mehta D, Noon SE, Schwartz E, et al.

American journal of medical genetics. Part A 2016; (170(10)):2523-30 doi:10.1002/ajmg.a.37855.

Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.

Kayvanpour E, Sedaghat-Hamedani F, Amr A, et al.

Clinical research in cardiology : official journal of the German Cardiac Society 2017; (106(2)):127-139 doi:10.1007/s00392-016-1033-6.

Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.

de Gonzalo-Calvo D, Quezada M, Campuzano O, et al.

International journal of cardiology 2017; (228()):870-880 doi:10.1016/j.ijcard.2016.11.045.

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

Ucar SK, Mayr JA, Feichtinger RG, et al.

JIMD reports 2017; (35()):39-45 doi:10.1007/8904_2016_23.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

Adadi N, Lahrouchi N, Bouhouch R, et al.

Journal of medical case reports 2017; (11(1)):88 doi:10.1186/s13256-017-1243-1.

Kidney Transplantation in Alström Syndrome: Case Report.

Poli L, Arroyo G, Garofalo M, et al.

Transplantation proceedings 2017; (49(4)):733-735 doi:10.1016/j.transproceed.2017.02.018.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Lindsey S, Brewer C, Stakhovskaya O, et al.

American journal of medical genetics. Part A 2017; (173(8)):2210-2218 doi:10.1002/ajmg.a.38316.

Mineralocorticoid receptor antagonist pattern of use in heart failure with reduced ejection fraction: findings from BIOSTAT-CHF.

Ferreira JP, Rossignol P, Machu JL, et al.

European journal of heart failure 2017; (19(10)):1284-1293 doi:10.1002/ejhf.900.

Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.

Alves D, Calmeiro ME, Macário C, Silva R

Acta medica portuguesa 2017; (30(7-8)):581-585 doi:10.20344/amp.8638.

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

Hasselberg NE, Haland TF, Saberniak J, et al.

European heart journal 2018; (39(10)):853-860 doi:10.1093/eurheartj/ehx596.

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

Umrigar A, Musso A, Mercer D, et al.

SAGE open medical case reports 2017; (5()):2050313X17745904 doi:10.1177/2050313X17745904.

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Hershberger RE, Givertz MM, Ho CY, et al.

Journal of cardiac failure 2018; (24(5)):281-302 doi:10.1016/j.cardfail.2018.03.004.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R, Diñeiro M, Cifuentes GA, et al.

BMC medical genomics 2018; (11(1)):58 doi:10.1186/s12920-018-0375-5.

The heart in m.3243A>G carriers.

Finsterer J, Zarrouk-Mahjoub S

Herz 2020; (45(4)):356-361 doi:10.1007/s00059-018-4739-6.

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Niedermayr K, Pölzl G, Scholl-Bürgi S, et al.

Congenital heart disease 2018; (13(5)):671-677 doi:10.1111/chd.12634.

Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation.

Abe S, Takeda H, Nishio SY, Usami SI

Human genome variation 2018; (5()):23 doi:10.1038/s41439-018-0023-9.

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.

Hearn T

Journal of molecular medicine (Berlin, Germany) 2019; (97(1)):1-17 doi:10.1007/s00109-018-1714-x.

Bilateral Cochlear Implantation: A Health Technology Assessment.

Ontario health technology assessment series 2018; (18(6)):1-139.

An Echocardiographic Evaluation of Dilated Cardiomyopathy in a Tertiary Care Hospital.

Thapa RK, K C K, Khatri R, et al.

JNMA; journal of the Nepal Medical Association 2019; (57(215)):33-36.

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

Varga L, Danis D, Skopkova M, et al.

BMC medical genetics 2019; (20(1)):84 doi:10.1186/s12881-019-0806-y.

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Gigli M, Merlo M, Graw SL, et al.

Journal of the American College of Cardiology 2019; (74(11)):1480-1490 doi:10.1016/j.jacc.2019.06.072.

Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa.

Bailly C, Henriques S, Tsabedze N, Krause A

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2019; (109(9)):673-678 doi:10.7196/SAMJ.2019.v109i9.13936.

Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy.

Akhtar M, Elliott PM

Current cardiology reports 2019; (21(12)):155 doi:10.1007/s11886-019-1236-3.

Cochlear implantation and mastoid obliteration in a patient with Alström Syndrome.

Hill RG, Dwyer K, Tirino J, Whitley M

International journal of pediatric otorhinolaryngology 2020; (132()):109894 doi:10.1016/j.ijporl.2020.109894.

Cochlear Implants in Alström Syndrome.

Gheller F, Gallo S, Trevisi P, et al.

The Annals of otology, rhinology, and laryngology 2020; (129(8)):833-837 doi:10.1177/0003489420903061.

Risk of sudden cardiac death in New York Heart Association class I patients with dilated cardiomyopathy: A competing risk analysis.

Stolfo D, Albani S, Savarese G, et al.

International journal of cardiology 2020; (307()):75-81 doi:10.1016/j.ijcard.2020.02.025.

Consensus-based statements for the management of mitochondrial stroke-like episodes.

Ng YS, Bindoff LA, Gorman GS, et al.

Wellcome open research 2019; (4()):201 doi:10.12688/wellcomeopenres.15599.1.

Prevalence and clinical features of hearing loss caused by EYA4 variants.

Shinagawa J, Moteki H, Nishio SY, et al.

Scientific reports 2020; (10(1)):3662 doi:10.1038/s41598-020-60259-0.

Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.

Gao Z, Yuan YS

Medicine 2020; (99(13)):e19373 doi:10.1097/MD.0000000000019373.

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Morín M, Borreguero L, Booth KT, et al.

Scientific reports 2020; (10(1)):6213 doi:10.1038/s41598-020-63256-5.

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.

Lombardo B, D'Argenio V, Monda E, et al.

Molecular genetics & genomic medicine 2020; (8(7)):e1260 doi:10.1002/mgg3.1260.

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.

Etheridge T, Kellom ER, Sullivan R, et al.

American journal of ophthalmology case reports 2020; (20()):100873 doi:10.1016/j.ajoc.2020.100873.

A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.

Zhou C, Xiao Y, Xie H, et al.

Molecular medicine reports 2020; (22(4)):3271-3276 doi:10.3892/mmr.2020.11398.

Consensus clinical management guidelines for Alström syndrome.

Tahani N, Maffei P, Dollfus H, et al.

Orphanet journal of rare diseases 2020; (15(1)):253 doi:10.1186/s13023-020-01468-8.

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Bea-Mascato B, Solarat C, Perea-Romero I, et al.

Genes 2021; (12(2)) doi:10.3390/genes12020282.

Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

Ahmadmehrabi S, Li B, Park J, et al.

Human genetics 2021; (140(6)):957-967 doi:10.1007/s00439-021-02263-6.

Improved Risk Stratification for Ventricular Arrhythmias and Sudden Death in Patients With Nonischemic Dilated Cardiomyopathy.

Di Marco A, Brown PF, Bradley J, et al.

Journal of the American College of Cardiology 2021; (77(23)):2890-2905 doi:10.1016/j.jacc.2021.04.030.

Spinal fusion with motor evoked potential monitoring using remimazolam in Alström syndrome: A case report.

Arashiro A, Shinzato H, Kamizato K, Kakinohana M

Medicine 2021; (100(47)):e27990 doi:10.1097/MD.0000000000027990.

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.

Xu P, Wang L, Peng H, et al.

Frontiers in cellular neuroscience 2021; (15()):804345 doi:10.3389/fncel.2021.804345.

Nonsustained Ventricular Tachycardia Is Independently Associated With Sustained Ventricular Arrhythmias in Nonischemic Dilated Cardiomyopathy.

Piers SR, Androulakis AF, Yim KS, et al.

Circulation. Arrhythmia and electrophysiology 2022; (15(2)):e009979 doi:10.1161/CIRCEP.121.009979.

A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss.

van Kempen CMA, Beynon AJ, Smits JJ, Janssen MCH

Molecular genetics and metabolism 2022; (135(4)):333-341 doi:10.1016/j.ymgme.2022.02.003.

Long-Term Progression and Rapid Decline in Hearing Loss in Patients with a Point Mutation at Nucleotide 3243 of the Mitochondrial DNA.

Sakata A, Kashio A, Koyama H, et al.

Life (Basel, Switzerland) 2022; (12(4)) doi:10.3390/life12040543.

Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

Quoraishi S, Mason G, Geberhiwot T, Dalton CL

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2022; (43(6)):e620-e627 doi:10.1097/MAO.0000000000003553.

Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.

Elander J, Ullmark T, Ehrencrona H, et al.

International journal of pediatric otorhinolaryngology 2022; (159()):111218 doi:10.1016/j.ijporl.2022.111218.

Effect of downregulated citrate synthase on oxidative phosphorylation signaling pathway in HEI-OC1 cells.

Xu X, Liu Y, Luan J, et al.

Proteome science 2022; (20(1)):14 doi:10.1186/s12953-022-00196-0.

Dilated Cardiomyopathy in Children: Early Detection and Treatment.

Mallavarapu A, Taksande A

Cureus 2022; (14(11)):e31111 doi:10.7759/cureus.31111.

Emerging concepts in heart failure management and treatment: focus on current guideline-directed medical therapy for heart failure with reduced ejection fraction.

Ospina González OE, Llanos Mejía DC, Kaplinsky E, et al.

Drugs in context 2023; (12()) doi:10.7573/dic.2022-6-4.

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Clabout T, Maes L, Acke F, et al.

Genes 2022; (14(1)) doi:10.3390/genes14010105.

Role of mitochondrial dysfunction and oxidative stress in sensorineural hearing loss.

Tan WJT, Song L

Hearing research 2023; (434()):108783 doi:10.1016/j.heares.2023.108783.

Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives.

Ni H, Jordan E, Kinnamon DD, et al.

Journal of the American College of Cardiology 2023; (81(21)):2059-2071 doi:10.1016/j.jacc.2023.03.419.

Guideline-Directed Medical Therapy for the Treatment of Heart Failure with Reduced Ejection Fraction.

Patel J, Rassekh N, Fonarow GC, et al.

Drugs 2023; (83(9)):747-759 doi:10.1007/s40265-023-01887-4.

Guideline-directed medical therapy for HFrEF: sequencing strategies and barriers for life-saving drug therapy.

Malgie J, Clephas PRD, Brunner-La Rocca HP, et al.

Heart failure reviews 2023; (28(5)):1221-1234 doi:10.1007/s10741-023-10325-2.

Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS.

Khasminsky V, Auriel E, Luckman J, et al.

Neurology. Genetics 2023; (9(4)):e200082 doi:10.1212/NXG.0000000000200082.

Impact of late gadolinium-enhanced cardiac MRI on arrhythmic and mortality outcomes in nonischemic dilated cardiomyopathy: updated systematic review and meta-analysis.

Theerasuwipakorn N, Chokesuwattanaskul R, Phannajit J, et al.

Scientific reports 2023; (13(1)):13775 doi:10.1038/s41598-023-41087-4.

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K, Cicerchia M, Hathaway J, et al.

Frontiers in cardiovascular medicine 2023; (10()):1254272 doi:10.3389/fcvm.2023.1254272.

The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss.

Koleilat A, Poling GL, Schimmenti LA, Hasadsri L

Ear and hearing 2024; (45(2)):517-521 doi:10.1097/AUD.0000000000001442.

Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.

Mazzola S, Schreiber A

American journal of otolaryngology 2024; (45(2)):104196 doi:10.1016/j.amjoto.2023.104196.

Role of arrhythmic phenotype in prognostic stratification and management of dilated cardiomyopathy.

Setti M, Merlo M, Gigli M, et al.

European journal of heart failure 2024; (26(3)):581-589 doi:10.1002/ejhf.3168.

Familial dilated cardiomyopathy in a child: a case report.

Ismail A, Khreis D, Assaad A, Majdalani MN

BMC pediatrics 2024; (24(1)):226 doi:10.1186/s12887-024-04614-4.

Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

Cabrera-Romero E, Ochoa JP, Barriales-Villa R, et al.

Journal of the American College of Cardiology 2024; (83(17)):1640-1651 doi:10.1016/j.jacc.2024.02.036.

[Clinical and genetic analysis of a Chinese patient with Alström syndrome].

Li J, Gao J, Wang L, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(5)):596-600 doi:10.3760/cma.j.cn511374-20230401-00184.

Cochlear Implant Outcomes in Patients With TMTC2 -Associated Sensorineural Hearing Loss and Auditory Neuropathy/Auditory Dys-Synchrony.

North L, Olivier M, Runge CL

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2024; (45(6)):e478-e482 doi:10.1097/MAO.0000000000004208.

Auditory Neuropathy Spectrum Disorder in Individuals with Sickle Cell Anemia: Case Study.

Sahu P, Barman A

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2024; (76(3)):2320-2325 doi:10.1007/s12070-024-04477-2.

How to Optimize Goal-Directed Medical Therapy (GDMT) in Patients with Heart Failure.

Newman E, Kamanu C, Gibson G, Brailovsky Y

Current cardiology reports 2024; (26(9)):995-1003 doi:10.1007/s11886-024-02101-x.

Clinical Characteristics and Outcomes of Dilated Cardiomyopathy in Chinese Children: A Single-Center Retrospective Study.

Chen C, Huang Y, Su D, et al.

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080992.

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model.

Patel L, Roy A, Barlow J, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108575 doi:10.1016/j.ymgme.2024.108575.

Implementation of guideline-directed medical therapy for heart failure patients with reduced ejection fraction in Belgium: a Delphi panel approach.

Devoldere J, Droogmans S, Heggermont WA, Van Craenenbroeck E

Acta cardiologica 2024; (79(8)):897-908 doi:10.1080/00015385.2024.2396767.

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Büyükyılmaz G, İnözü M, Çavdarlı B

The Turkish journal of pediatrics 2024; (66(4)):490-498 doi:10.24953/turkjpediatr.2024.4702.

Clinical profile of dilated cardiomyopathy in children enrolled in chronic cardiac care: a decade review in a sub-Saharan African tertiary center.

Gashaw H, Tadele H

BMC cardiovascular disorders 2024; (24(1)):689 doi:10.1186/s12872-024-04356-2.

Genetic analysis of patients with low-frequency non-syndromic hearing loss.

Yu S, Li W, Lin X, et al.

Molecular genetics and genomics : MGG 2024; (300(1)):5 doi:10.1007/s00438-024-02209-3.

Initiation and sequencing of guideline-directed medical therapy for heart failure across the ejection fraction spectrum.

Shahid I, Khan MS, Butler J, et al.

Heart failure reviews 2025; (30(3)):515-523 doi:10.1007/s10741-025-10481-7.

Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic.

Thierry IP, Muller SA, Baas AF, et al.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2025; (33(2)):46-54 doi:10.1007/s12471-024-01924-1.

The contribution of cardiopulmonary exercise testing in the familial screening for dilated and non-dilated left ventricular cardiomyopathies: case series.

Del Mestre E, Capovilla TM, Paldino A, et al.

European heart journal. Case reports 2025; (9(4)):ytaf162 doi:10.1093/ehjcr/ytaf162.

Characteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).

Fábrega-Torrano M, González-Aguado R, Onecha E, Morales-Angulo C

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2025; (77(8)):3091-3098 doi:10.1007/s12070-025-05638-7.

Improving the Management of Patients with Heart Failure with Reduced Ejection Fraction in Clinical Practice: The Case for Angiotensin Receptor-Neprilysin Inhibitor.

Iacoviello M, Maria Sarullo F, Bilato C, et al.

Cardiac failure review 2025; (11()):e16 doi:10.15420/cfr.2024.39.

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.

Vigouroux A, Glemain B, Torres R, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2025; (173(5)):1215-1227 doi:10.1002/ohn.1375.

Clinical care of family members of patients with dilated cardiomyopathy.

Verdonschot JAJ, Kaski JP, Asselbergs FW, et al.

European heart journal 2025; (46(43)):4569-4582 doi:10.1093/eurheartj/ehaf571.

Impact of genotype-phenotype associations on prognosis in dilated cardiomyopathy.

Stroeks SLVM, Wang P, Merlo M, et al.

European journal of heart failure 2025; (27(12)):3205-3218 doi:10.1002/ejhf.70040.

Cochlear Implantation in Alport Syndrome: A Novel Case Series.

Moon E, Bond L, Gordon SA

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2026; (47(1)):e27-e30 doi:10.1097/MAO.0000000000004687.

Predictive value of ambulatory ECG monitoring for malignant arrhythmic events in genetic dilated cardiomyopathy.

Venner MFGHM, Heymans ABM, Beelen NJ, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2025; (27(11)) doi:10.1093/europace/euaf279.

Initiation of SGLT2 inhibitors versus mineralocorticoid receptor antagonists as third-line therapy in heart failure with reduced ejection fraction: a nationwide cohort study.

Svanström H, Mkoma GF, Hviid A, Pasternak B

The Lancet regional health. Europe 2026; (60()):101510 doi:10.1016/j.lanepe.2025.101510.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Huang Y, Wang L, Zhang Q, et al.

Orphanet journal of rare diseases 2025; (20(1)):630 doi:10.1186/s13023-025-04139-8.

Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series.

Boerboom RA, Engels S, Ebbens FA, et al.

Cochlear implants international 2026; (27(1)):73-80 doi:10.1080/14670100.2025.2607227.

[Current indications for cochlear implantation].

Jakob TF, Aschendorff A, Ketterer MC, et al.

HNO 2026; (74(4)):251-262 doi:10.1007/s00106-026-01744-2.

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.

Sakin I, Swords C, Ball J, et al.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2026; (51(5)):708-713 doi:10.1111/coa.70125.

Spoken Language Outcomes After Early Cochlear Implantation in a Diverse, Multi-Institutional Cohort of Congenitally Deaf Children.

Patel EJ, Stephans J, Yoon P, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2026; (47(9)):1131-1136 doi:10.1097/MAO.0000000000004998.

Homozygous PPP1R13L Mutation Associated with Dilated Cardiomyopathy in a 1-Year-Old Child.

Sorescu AM, Ghiță CIV, Duică G, et al.

Life (Basel, Switzerland) 2026; (16(8)) doi:10.3390/life16081229.

Optimizing Screening Intervals for At-Risk Relatives of Dilated Cardiomyopathy Carrying a TTNtv.

Muller SA, Beelen NJ, Paldino A, et al.

Circulation. Heart failure 2026; e013822 doi:10.1161/CIRCHEARTFAILURE.125.013822.

Genotype and arrhythmic risk in dilated cardiomyopathy.

Padalia K, Fornaro A, Claggett B, et al.

European heart journal 2026; doi:10.1093/eurheartj/ehag648.

A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients.

Bdier AY, Al-Qahtani FA, Verma PK, et al.

Archives of medical science : AMS 2026; (22(4)):2197-2204 doi:10.5114/aoms.2020.100635.

The treatment process of a case with dilated cardiomyopathy, severe mitral insufficiency, and coaptation defect in the context of decompensated clinical condition with left ventricular assist device placement.

Ön ŞŞ, Dogan E, Tuncer ON, et al.

Cardiology in the young 2025; (35(6)):1273-1278 doi:10.1017/S1047951125100607.

Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4).

Alkateb FA, Aljohani R, Alkahmous MS, Mushiba A

Clinical genetics 2026; doi:10.1111/cge.70268.