Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Glaucoma-Related Adverse Events in the First 5 Years After Unilateral Cataract Removal in the Infant Aphakia Treatment Study.

Freedman SF, Lynn MJ, Beck AD, et al.

JAMA ophthalmology 2015; (133(8)):907-14 doi:10.1001/jamaophthalmol.2015.1329.

Evaluating the evidence for and against the use of IOLs in infants and young children.

Kumar P, Lambert SR

Expert review of medical devices 2016; (13(4)):381-9 doi:10.1586/17434440.2016.1153967.

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.

Nissenkorn A, Levy-Shraga Y, Banet-Levi Y, et al.

Pediatric research 2016; (79(6)):889-94 doi:10.1038/pr.2016.19.

Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.

Gai N, Jiang C, Zou YY, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (458()):1-4.

Early menopause: A hazard to a woman's health.

Hernández-Angeles C, Castelo-Branco C

The Indian journal of medical research 2016; (143(4)):420-7 doi:10.4103/0971-5916.184283.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, et al.

American journal of human genetics 2017; (100(4)):592-604 doi:10.1016/j.ajhg.2017.02.008.

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E, Flanagan SE, Yagi T, et al.

Diabetes 2017; (66(7)):2044-2053 doi:10.2337/db16-1296.

19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.

Nacinovich R, Villa N, Broggi F, et al.

Neuropsychiatric disease and treatment 2017; (13()):2545-2550 doi:10.2147/NDT.S142356.

Follow-up patterns and associated risk factors after paediatric cataract surgery: observation over a 5-year period.

Chougule P, Murat S, Mohamed A, Kekunnaya R

The British journal of ophthalmology 2018; (102(11)):1550-1555 doi:10.1136/bjophthalmol-2017-311294.

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

Gumus E

Ophthalmic genetics 2018; (39(3)):391-395 doi:10.1080/13816810.2018.1432065.

Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations.

Klein KO, Rosenfield RL, Santen RJ, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(5)):1790-1803 doi:10.1210/jc.2017-02183.

Novel insights on testicular volume and testosterone replacement therapy in Klinefelter patients undergoing testicular sperm extraction. A retrospective clinical study.

Garolla A, Selice R, Menegazzo M, et al.

Clinical endocrinology 2018; (88(5)):711-718 doi:10.1111/cen.13572.

Primary Bullous Keratopathy in a Patient With Werner Syndrome Treated With Corneal Transplant.

Singh D, Ganger A, Gupta N, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2019; (17(5)):699-701 doi:10.6002/ect.2017.0163.

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.

Noncytotoxic-Related Primary Ovarian Insufficiency in Adolescents: Multicenter Case Series and Review.

Kanner L, Hakim JCE, Davis Kankanamge C, et al.

Journal of pediatric and adolescent gynecology 2018; (31(6)):597-604 doi:10.1016/j.jpag.2018.06.006.

Accuracy of Routine Prenatal Genetic Screening in Patients Referred for Genetic Counseling.

Gilstrop Thompson M, Corsetti S, Jain V, et al.

American journal of perinatology 2020; (37(3)):271-276 doi:10.1055/s-0039-1678533.

Review of Hormone Replacement Therapy in Girls and Adolescents with Hypogonadism.

Klein KO, Phillips SA

Journal of pediatric and adolescent gynecology 2019; (32(5)):460-468 doi:10.1016/j.jpag.2019.04.010.

Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation.

Staikou C, Stamelos M, Stavroulakis E

Anaesthesiology intensive therapy 2019; (51(2)):133-146 doi:10.5114/ait.2019.86278.

Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.

Al-Jaroudi D, Enabi S, AlThagafi MS

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019; (35(12)):1037-1039 doi:10.1080/09513590.2019.1637407.

Updates on managements of pediatric cataract.

Mohammadpour M, Shaabani A, Sahraian A, et al.

Journal of current ophthalmology 2019; (31(2)):118-126 doi:10.1016/j.joco.2018.11.005.

Primary gonadal failure.

Ladjouze A, Donaldson M

Best practice & research. Clinical endocrinology & metabolism 2019; (33(3)):101295 doi:10.1016/j.beem.2019.101295.

Androgens During Infancy, Childhood, and Adolescence: Physiology and Use in Clinical Practice.

Mason KA, Schoelwer MJ, Rogol AD

Endocrine reviews 2020; (41(3)) doi:10.1210/endrev/bnaa003.

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.

Hozhabri H, Talebi M, Mehrjardi MYV, et al.

American journal of medical genetics. Part A 2020; (182(5)):957-961 doi:10.1002/ajmg.a.61543.

Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches.

Berry V, Georgiou M, Fujinami K, et al.

The British journal of ophthalmology 2020; (104(10)):1331-1337 doi:10.1136/bjophthalmol-2019-315282.

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Das L, Rai A, Mavuduru R, et al.

Endocrine 2020; (69(2)):420-429 doi:10.1007/s12020-020-02320-6.

Use of telephone intake for family history taking at a cancer genetics service in Asia.

Chin XW, Ang ZLT, Tan RYC, et al.

Journal of genetic counseling 2020; (29(6)):1192-1199 doi:10.1002/jgc4.1286.

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Xu W, Plummer L, Quinton R, et al.

Cold Spring Harbor molecular case studies 2020; (6(3)) doi:10.1101/mcs.a005033.

Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome.

Zitzmann M, Rohayem J

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):302-312 doi:10.1002/ajmg.c.31786.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

Zeng T, Liao L, Guo Y, et al.

BMC pediatrics 2020; (20(1)):420 doi:10.1186/s12887-020-02309-0.

Impact of Hormonal Replacement Therapy on Bone Mineral Density in Premature Ovarian Insufficiency Patients.

Podfigurna A, Maciejewska-Jeske M, Nadolna M, et al.

Journal of clinical medicine 2020; (9(12)) doi:10.3390/jcm9123961.

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.

Elliott AM, Dragojlovic N, Campbell T, et al.

Journal of telemedicine and telecare 2023; (29(4)):318-327 doi:10.1177/1357633X20982737.

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty.

Seppä S, Kuiri-Hänninen T, Holopainen E, Voutilainen R

European journal of endocrinology 2021; (184(6)):R225-R242.

Genetics of Azoospermia.

Cioppi F, Rosta V, Krausz C

International journal of molecular sciences 2021; (22(6)) doi:10.3390/ijms22063264.

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Bayram N, Kaçar Bayram A, Daimagüler HS, et al.

European journal of ophthalmology 2022; (32(3)):NP92-NP97 doi:10.1177/11206721211021291.

Genome sequencing in congenital cataracts improves diagnostic yield.

Ma A, Grigg JR, Flaherty M, et al.

Human mutation 2021; (42(9)):1173-1183 doi:10.1002/humu.24240.

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.

Nguyen XT, Almushattat H, Strubbe I, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091404.

Current management of infantile cataracts.

Lenhart PD, Lambert SR

Survey of ophthalmology 2022; (67(5)):1476-1505 doi:10.1016/j.survophthal.2022.03.005.

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.

Bauskis A, Strange C, Molster C, Fisher C

Orphanet journal of rare diseases 2022; (17(1)):233 doi:10.1186/s13023-022-02358-x.

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.

Chen X, Yang L, Li J, Tan H

BMC endocrine disorders 2022; (22(1)):278 doi:10.1186/s12902-022-01150-z.

The Prevalence of Cataract in Children.

Katre D, Selukar K

Cureus 2022; (14(10)):e30135 doi:10.7759/cureus.30135.

A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings

Yıldız M, Önal Z, Yeşil G, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(1)):97-102 doi:10.4274/jcrpe.galenos.2023.2022-10-4.

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

Rossen JL, Bohnsack BL, Zhang KX, et al.

Genes 2023; (14(3)) doi:10.3390/genes14030608.

Participation in a national diagnostic research study: assessing the patient experience.

Rosenfeld LE, LeBlanc K, Nagy A, et al.

Orphanet journal of rare diseases 2023; (18(1)):73 doi:10.1186/s13023-023-02695-5.

Congenital cataract: a guide to genetic and clinical management.

Bell SJ, Oluonye N, Harding P, Moosajee M

Therapeutic advances in rare disease 2020; (1()):2633004020938061 doi:10.1177/2633004020938061.

Managing Early Onset Osteoporosis: The Impact of Premature Ovarian Insufficiency on Bone Health.

Meczekalski B, Niwczyk O, Bala G, Szeliga A

Journal of clinical medicine 2023; (12(12)) doi:10.3390/jcm12124042.

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Frontino G, Di Tonno R, Stancampiano MR, et al.

Frontiers in endocrinology 2023; (14()):1155644 doi:10.3389/fendo.2023.1155644.

Psychosocial impact at the time of a rare disease diagnosis.

Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, et al.

PloS one 2023; (18(7)):e0288875 doi:10.1371/journal.pone.0288875.

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Simeon R, Berardi A, Valente D, et al.

Children (Basel, Switzerland) 2023; (10(7)) doi:10.3390/children10071257.

Living with a rare disease - experiences and needs in pediatric patients and their parents.

Witt S, Schuett K, Wiegand-Grefe S, et al.

Orphanet journal of rare diseases 2023; (18(1)):242 doi:10.1186/s13023-023-02837-9.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.

Wang Q, Wang D, Qin T, et al.

American journal of ophthalmology 2024; (263()):206-213 doi:10.1016/j.ajo.2023.10.022.

[Replicative and biochemical ageing mechanisms among females with Turner syndromes].

Mikheev RK, Andreeva EN, Grigoryan OR, et al.

Problemy endokrinologii 2024; (69(6)):113-120 doi:10.14341/probl13256.

Visual axis opacification after pediatric cataract surgery - An analysis of morphology and etiology.

Khokhar S, Chandel L, Rani D, et al.

Indian journal of ophthalmology 2024; (72(Suppl 4)):S623-S627 doi:10.4103/IJO.IJO_2339_23.

A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

Li H, Zheng K, Xie M

Ophthalmic genetics 2024; (45(5)):537-541 doi:10.1080/13816810.2024.2368791.

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Faheem A, Masud R, Nasir R, et al.

Molecular biology reports 2024; (51(1)):853 doi:10.1007/s11033-024-09746-5.

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Venema M, Albuainain F, Schot R, et al.

Clinical genetics 2025; (107(3)):341-347 doi:10.1111/cge.14650.

Clinical Reasoning: Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia.

Chadha D, Viswanathan LG, Santhoshkumar R, et al.

Neurology 2025; (104(2)):e210253 doi:10.1212/WNL.0000000000210253.

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

Rohayem J, Cunningham O, Williams D, et al.

Andrology 2026; (14(2)):398-410 doi:10.1111/andr.70049.

Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study.

Esteban-Bueno G, Fernández-Martínez JL

Diagnostics (Basel, Switzerland) 2025; (15(13)) doi:10.3390/diagnostics15131594.

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.

Gialouris JV, Cheong PL, Zekanovic S, et al.

JCEM case reports 2025; (3(10)):luaf187 doi:10.1210/jcemcr/luaf187.

Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.

Smits RM, Aerts A, Angelov T, et al.

Orphanet journal of rare diseases 2025; (20(1)):543 doi:10.1186/s13023-025-04017-3.

I've Never Heard of This! An Approach to Child and Family-Centred Care for Children and Young People With Rare Diseases.

Ewans LJ, Pierce K, Farley E, et al.

Journal of paediatrics and child health 2025; doi:10.1111/jpc.70267.

The increasing role of genetic counseling in pediatric oncology.

Clark ME, McGee RB, Zelley K

Current opinion in pediatrics 2026; (38(1)):65-72 doi:10.1097/MOP.0000000000001525.

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Akhila P, Naik J, Arun Babu T

BMJ case reports 2026; (19(1)) doi:10.1136/bcr-2025-268160.

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.

Gong X, Liu Y, Liang H

Frontiers in pediatrics 2026; (14()):1714952 doi:10.3389/fped.2026.1714952.

"We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.

Domaradzki J

Frontiers in public health 2026; (14()):1743598 doi:10.3389/fpubh.2026.1743598.

Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports.

Buchignani B, Vega G, Pasquariello R, et al.

Children (Basel, Switzerland) 2026; (13(3)) doi:10.3390/children13030359.

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.

Tan X, Huang Y, Wei X, et al.

BMC medical genomics 2026; (19(1)).

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Mutlu MB, Topçu V, Çetinkaya ŞE, et al.

Turkish journal of obstetrics and gynecology 2026; (23(2)):139-145 doi:10.4274/tjod.galenos.2026.68957.

Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.

Abdalla HM, Abdelnabi M, Khedr A, et al.

Current cardiology reports 2026; (28(1)).

Stage IIIC Bilateral Dysgerminoma in 46,XY Swyer Syndrome: Preventing Malignancy Through Early Endocrine Evaluation of Primary Amenorrhea.

Elendu C, Sidhu AK, Okabekwa OS, et al.

Clinical case reports 2026; (14(7)):e73154 doi:10.1002/ccr3.73154.

Unveiling ocular developmental disorders through short-read whole-genome sequencing.

European journal of human genetics : EJHG 2026; doi:10.1038/s41431-026-02160-4.

Spontaneous conception and successful live birth during hormone replacement therapy in a patient with iatrogenic premature ovarian insufficiency: a case report.

Lee JM, Yang JS, Park JE, et al.

Frontiers in medicine 2026; (13()):1929801 doi:10.3389/fmed.2026.1929801.