Research & Literature

Characterizing the morbid genome of ciliopathies.

Shaheen R, Szymanska K, Basu B, et al.

Genome biology 2016; (17(1)):242 doi:10.1186/s13059-016-1099-5.

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Garcia-Tizon Larroca S, Blagoeva Atanasova V, Orera Clemente M, et al.

Clinical case reports 2017; (5(4)):449-453 doi:10.1002/ccr3.859.

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.

Mujahid S, Hunt KF, Cheah YS, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(5)):1834-1841 doi:10.1210/jc.2017-01459.

BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.

Nozaki S, Katoh Y, Kobayashi T, Nakayama K

PloS one 2018; (13(3)):e0195005 doi:10.1371/journal.pone.0195005.

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Tavares E, Tang CY, Vig A, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00521 doi:10.1002/mgg3.521.

Ciliopathy: Bardet-Biedl Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):171-174 doi:10.1007/978-3-319-95046-4_33.

Cutaneous findings in Bardet-Biedl syndrome.

Haws RM, McIntee TJ, Green CB

International journal of dermatology 2019; (58(10)):1160-1164 doi:10.1111/ijd.14412.

Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population.

Khan OA, Majeed R, Saad M, et al.

Cureus 2019; (11(2)):e4114 doi:10.7759/cureus.4114.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e834 doi:10.1002/mgg3.834.

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

Haq N, Schmidt-Hieber C, Sialana FJ, et al.

PLoS biology 2019; (17(9)):e3000414 doi:10.1371/journal.pbio.3000414.

Clinical characteristics of individual organ system disease in non-motile ciliopathies.

Grochowsky A, Gunay-Aygun M

Translational science of rare diseases 2019; (4(1-2)):1-23 doi:10.3233/TRD-190033.

Intraflagellar transport protein RABL5/IFT22 recruits the BBSome to the basal body through the GTPase ARL6/BBS3.

Xue B, Liu YX, Dong B, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(5)):2496-2505 doi:10.1073/pnas.1901665117.

Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.

Zelihić D, Hjardemaal FR, Lippe CV

European journal of medical genetics 2020; (63(4)):103856 doi:10.1016/j.ejmg.2020.103856.

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Katagiri S, Hosono K, Hayashi T, et al.

Documenta ophthalmologica. Advances in ophthalmology 2020; (141(1)):77-88 doi:10.1007/s10633-020-09752-5.

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Gouronc A, Zilliox V, Jacquemont ML, et al.

Clinical genetics 2020; (98(2)):166-171 doi:10.1111/cge.13768.

Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome.

Haws R, Brady S, Davis E, et al.

Diabetes, obesity & metabolism 2020; (22(11)):2133-2140 doi:10.1111/dom.14133.

Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.

Pomeroy J, Krentz AD, Richardson JG, et al.

Pediatric obesity 2021; (16(2)):e12703 doi:10.1111/ijpo.12703.

A rare case of Bardet-Biedl syndrome.

Shrinkhal , Singh A, Agrawal A, et al.

Taiwan journal of ophthalmology 2020; (10(2)):138-140 doi:10.4103/tjo.tjo_62_19.

Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.

Marchese E, Ruoppolo M, Perna A, et al.

Kidney international reports 2020; (5(9)):1403-1415 doi:10.1016/j.ekir.2020.06.017.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Jeziorny K, Antosik K, Jakiel P, et al.

Genes 2020; (11(11)) doi:10.3390/genes11111283.

Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review.

Kumar A, Husain A, Saleem A, et al.

Cureus 2020; (12(11)):e11355 doi:10.7759/cureus.11355.

Laurence-moon-biedl-bardet syndrome: An overview.

Rissardo JP, Caprara ALF

Taiwan journal of ophthalmology 2021; (11(1)):108-109 doi:10.4103/tjo.tjo_2_20.

Bardet-Biedl Syndrome in an Ethiopian.

Tsegaw A, Teshome T

International medical case reports journal 2021; (14()):177-181 doi:10.2147/IMCRJ.S299421.

A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin Pathway.

Kanti V, Puder L, Jahnke I, et al.

Skin pharmacology and physiology 2021; (34(6)):307-316 doi:10.1159/000516282.

A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

Guardiola GA, Ramos F, Izquierdo NJ, Oliver AL

Clinical ophthalmology (Auckland, N.Z.) 2021; (15()):3757-3764 doi:10.2147/OPTH.S328493.

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.

Florea L, Caba L, Gorduza EV

Genes 2021; (12(9)) doi:10.3390/genes12091353.

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.

Dallali H, Kheriji N, Kammoun W, et al.

Frontiers in genetics 2021; (12()):664963 doi:10.3389/fgene.2021.664963.

Bardet-Biedl Syndrome With Renal, Cardiac, and Genitourinary Malformations: A Case Report.

Waleed MS, Varughese AA, Amba V, Pathalapati R

Cureus 2021; (13(12)):e20577 doi:10.7759/cureus.20577.

Kidney failure in Bardet-Biedl syndrome.

Meyer JR, Krentz AD, Berg RL, et al.

Clinical genetics 2022; (101(4)):429-441 doi:10.1111/cge.14119.

Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.

Day ML, Avila CC, Novak DL

Clinical case reports 2022; (10(2)):e05453 doi:10.1002/ccr3.5453.

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition.

Masek M, Etard C, Hofmann C, et al.

Nature communications 2022; (13(1)):1282 doi:10.1038/s41467-022-28982-6.

Bardet-Biedl syndrome: a case series.

Elawad OAMA, Dafallah MA, Ahmed MMM, et al.

Journal of medical case reports 2022; (16(1)):169 doi:10.1186/s13256-022-03396-6.

Better and faster is cheaper.

Sanford Kobayashi EF, Dimmock DP

Human mutation 2022; (43(11)):1495-1506 doi:10.1002/humu.24422.

CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.

Zhou Z, Katoh Y, Nakayama K

Molecular biology of the cell 2022; (33(13)):ar126 doi:10.1091/mbc.E22-05-0161.

ARL3 mediates BBSome ciliary turnover by promoting its outward movement across the transition zone.

Liu YX, Sun WY, Xue B, et al.

The Journal of cell biology 2022; (221(10)) doi:10.1083/jcb.202111076.

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.

Caba L, Florea L, Braha EE, et al.

Journal of multidisciplinary healthcare 2022; (15()):2153-2167 doi:10.2147/JMDH.S274739.

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

Haqq AM, Chung WK, Dollfus H, et al.

The lancet. Diabetes & endocrinology 2022; (10(12)):859-868 doi:10.1016/S2213-8587(22)00277-7.

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.

Forsythe E, Haws RM, Argente J, et al.

Orphanet journal of rare diseases 2023; (18(1)):12 doi:10.1186/s13023-022-02602-4.

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice.

Stubbs T, Bingman JI, Besse J, Mykytyn K

Frontiers in cell and developmental biology 2022; (10()):1092161 doi:10.3389/fcell.2022.1092161.

Bardet-Biedl Syndrome Presenting in Adulthood.

Ankleshwaria C, Prajapati B, Parmar S, et al.

Indian journal of nephrology 2022; (32(6)):633-636 doi:10.4103/ijn.ijn_320_21.

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.

Melluso A, Secondulfo F, Capolongo G, et al.

Therapeutics and clinical risk management 2023; (19()):115-132 doi:10.2147/TCRM.S338653.

Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome.

Ervin C, Norcross L, Mallya UG, et al.

Advances in therapy 2023; (40(5)):2394-2411 doi:10.1007/s12325-023-02443-y.

Bangladeshi Case Series of Bardet-Biedl Syndrome.

Osman F, Iqbal MI, Islam MN, Kabir SJ

Case reports in ophthalmological medicine 2023; (2023()):4017010 doi:10.1155/2023/4017010.

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG, Kwon H, Park JH, et al.

Brain communications 2023; (5(3)):fcad139 doi:10.1093/braincomms/fcad139.

Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease.

Rasel M, Istiak A, Saiara A, et al.

Clinical case reports 2023; (11(7)):e7649 doi:10.1002/ccr3.7649.

Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.

Arroyo Gonzalez GM, Izquierdo N

Cureus 2023; (15(7)):e41963 doi:10.7759/cureus.41963.

Efficacy and Safety of Setmelanotide, a Melanocortin-4 Receptor Agonist, for Obese Patients: A Systematic Review and Meta-Analysis.

Ferraz Barbosa B, Aquino de Moraes FC, Bordignon Barbosa C, et al.

Journal of personalized medicine 2023; (13(10)) doi:10.3390/jpm13101460.

A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis.

Van Roy N, Heerwegh S, Husein D, et al.

Endocrinology, diabetes & metabolism case reports 2023; (2023(4)).

Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.

Tomlinson JW

Diabetes, obesity & metabolism 2024; (26 Suppl 2()):13-24 doi:10.1111/dom.15480.

Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report.

Arias-García E, Valls-Ferran I, Gutiérrez-Partida B, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2024; (99(5)):205-208 doi:10.1016/j.oftale.2024.02.003.

[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].

Cetiner M, Bergmann C, Bettendorf M, et al.

Klinische Padiatrie 2024; (236(5)):269-279 doi:10.1055/a-2251-5382.

Renal Pathology of Ciliopathies.

Sekar T, Sebire NJ

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2024; (27(5)):411-425 doi:10.1177/10935266241242173.

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.

Karmi HB, Abu Jwaid Y, Shehadeh MH, et al.

Frontiers in pediatrics 2024; (12()):1420684 doi:10.3389/fped.2024.1420684.

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Pincay J, Rodriguez M, Kaushal D, Tsang SH

Documenta ophthalmologica. Advances in ophthalmology 2024; (149(2)):133-138 doi:10.1007/s10633-024-09985-8.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Dollfus H, Lilien MR, Maffei P, et al.

European journal of human genetics : EJHG 2024; (32(11)):1347-1360 doi:10.1038/s41431-024-01634-7.

How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.

Stallmeyer B, Dicke AK, Tüttelmann F

Andrology 2025; (13(5)):1011-1024 doi:10.1111/andr.13728.

Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.

Al-Mat'hammi AA, Alzahrani SA, Alsefry FS, et al.

Cureus 2024; (16(7)):e65774 doi:10.7759/cureus.65774.

Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases.

Padmanabhan K, Ashish S, Vijayan N, Hemanthkumar SM

Cureus 2024; (16(8)):e66233 doi:10.7759/cureus.66233.

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.

Cetiner M, Finkelberg I, Schiepek F, et al.

Orphanet journal of rare diseases 2024; (19(1)):425 doi:10.1186/s13023-024-03400-w.

Delayed identification of Bardet-Biedl syndrome.

Kanitkar S, Ande SP, Shivnitwar SK, Edara M

BMJ case reports 2024; (17(11)) doi:10.1136/bcr-2024-261843.

Adverse event profile of setmelanotide in obesity: an integrated assessment and systematic review using disproportionality analysis, case reports and meta-analysis.

Sridharan K, Sivaramakrishnan G

Expert opinion on drug safety 2025; 1-10 doi:10.1080/14740338.2025.2465880.

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.

Zacchia M, Secondulfo F, Melluso A, et al.

Kidney international reports 2025; (10(2)):375-385 doi:10.1016/j.ekir.2024.10.030.

Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.

Beales PL, Cetiner M, Haqq AM, et al.

Obesity reviews : an official journal of the International Association for the Study of Obesity 2025; (26(7)):e13915 doi:10.1111/obr.13915.

A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier.

Ahmad Mian D, Shah ZA, Ikram MT, et al.

AACE clinical case reports 2025; (11(2)):121-125 doi:10.1016/j.aace.2024.12.006.

Patient and caregiver experiences with a patient-support program for setmelanotide treatment of patients with Bardet-Biedl syndrome.

Finkelberg I, Polichronidou IM, Hühne T, et al.

Orphanet journal of rare diseases 2025; (20(1)):290 doi:10.1186/s13023-025-03835-9.

Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.

Rosado A, Rodriguez E, Izquierdo N

Medicina (Kaunas, Lithuania) 2025; (61(7)) doi:10.3390/medicina61071135.

Ciliopathy: Bardet-Biedl Syndrome.

Hondur A, Tsang S, Aycinena ARP, et al.

Advances in experimental medicine and biology 2025; (1467()):185-188 doi:10.1007/978-3-031-72230-1_33.

BBS8-dependent ciliary Hedgehog signaling governs cell fate in the white adipose tissue.

Sieckmann K, Winnerling N, Silva Ribeiro DJ, et al.

The EMBO journal 2025; (44(19)):5315-5336 doi:10.1038/s44318-025-00524-y.

Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report.

Bouchoual M, Dadi K, Cherradi I, et al.

Annals of medicine and surgery (2012) 2025; (87(7)):4636-4639 doi:10.1097/MS9.0000000000003434.

Impact of the Melanocortin-4 Receptor Agonist Setmelanotide on MASLD and Kidney Function in Bardet-Biedl Syndrome.

Hühne T, Polichronidou IM, Finkelberg I, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(3)):721-733 doi:10.1210/clinem/dgaf483.

Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.

Moremi S, Hubona M, Maphorisa T, Olashore AA

The Journal of international medical research 2025; (53(9)):3000605251379249 doi:10.1177/03000605251379249.

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome.

Kuk M, Richards J, Ross RA

Frontiers in endocrinology 2025; (16()):1646663 doi:10.3389/fendo.2025.1646663.

Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome.

Ogden T, de Graaf B, Hymers T

Journal of cell science 2025; (138(20)) doi:10.1242/jcs.264320.

[Ophthalmological care of patients with Bardet-Biedl syndrome].

Mahler EA, Kochs CL, Saßmannshausen M, et al.

Die Ophthalmologie 2025; doi:10.1007/s00347-025-02339-y.

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

Jena D, Pattanaik S, Sahoo SK, et al.

AACE endocrinology and diabetes 2026; (13(1)):22-26 doi:10.1016/j.aed.2025.08.019.