Research & Literature

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, et al.

Human mutation 2015; (36(4)):454-62 doi:10.1002/humu.22761.

A neural crest origin for cohesinopathy heart defects.

Schuster K, Leeke B, Meier M, et al.

Human molecular genetics 2015; (24(24)):7005-16 doi:10.1093/hmg/ddv402.

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.

Wu Y, Gause M, Xu D, et al.

PLoS genetics 2015; (11(11)):e1005655 doi:10.1371/journal.pgen.1005655.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, et al.

Clinical genetics 2016; (89(5)):584-9 doi:10.1111/cge.12720.

Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

Wierzba J, Mazurkiewicz-Bełdzińska M, Jabłońska-Brudło J, et al.

Developmental period medicine 2015; (19(4)):511-5.

Characterization of limb differences in children with Cornelia de Lange Syndrome.

Mehta D, Vergano SA, Deardorff M, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(2)):155-62 doi:10.1002/ajmg.c.31498.

Sleep disorders in Cornelia de Lange syndrome.

Zambrelli E, Fossati C, Turner K, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(2)):214-21 doi:10.1002/ajmg.c.31497.

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.

Mariani M, Decimi V, Bettini LR, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(2)):206-13 doi:10.1002/ajmg.c.31502.

Improvement in hearing loss over time in Cornelia de Lange syndrome.

Janek KC, Smith DF, Kline AD, et al.

International journal of pediatric otorhinolaryngology 2016; (87()):203-7.

Behaviour in Cornelia de Lange syndrome: a systematic review.

Mulder PA, Huisman SA, Hennekam RC, et al.

Developmental medicine and child neurology 2017; (59(4)):361-366 doi:10.1111/dmcn.13361.

Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.

Grados MA, Alvi MH, Srivastava S

Current opinion in psychiatry 2017; (30(2)):92-96 doi:10.1097/YCO.0000000000000311.

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

Mora-Bautista VM, Mendoza-Rojas V, Contreras-García GA

Archivos argentinos de pediatria 2017; (115(3)):e170-e174 doi:10.5546/aap.2017.e170.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, et al.

American journal of medical genetics. Part A 2017; (173(8)):2108-2125 doi:10.1002/ajmg.a.38279.

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.

Reid D, Moss J, Nelson L, et al.

Journal of neurodevelopmental disorders 2017; (9(1)):29 doi:10.1186/s11689-017-9208-7.

Cornelia de Lange syndrome: What every otolaryngologist should know.

Eliason MJ, Melzer JM, Gallagher TQ

Ear, nose, & throat journal 2017; (96(8)):E6-E9 doi:10.1177/014556131709600802.

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.

Newkirk DA, Chen YY, Chien R, et al.

Clinical epigenetics 2017; (9()):89 doi:10.1186/s13148-017-0391-x.

An experimental study of executive function and social impairment in Cornelia de Lange syndrome.

Nelson L, Crawford H, Reid D, et al.

Journal of neurodevelopmental disorders 2017; (9(1)):33 doi:10.1186/s11689-017-9213-x.

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.

Vial Y, Lachenaud J, Verloes A, et al.

Haematologica 2018; (103(6)):e274-e276 doi:10.3324/haematol.2017.178590.

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

Kang MJ, Ahn SM, Hwang IT

Annals of clinical and laboratory science 2018; (48(1)):106-109.

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Zhao YJ, Ma HW

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(5)):387-391.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, et al.

Nature reviews. Genetics 2018; (19(10)):649-666 doi:10.1038/s41576-018-0031-0.

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Decimi V, Parma B, Panceri R, et al.

American journal of medical genetics. Part A 2018; (176(9)):1865-1871 doi:10.1002/ajmg.a.40372.

Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

Sharawat IK, Dawman L

Journal of pediatric neurosciences 2018; (13(3)):334-336 doi:10.4103/JPN.JPN_25_18.

Ophthalmologic findings in the Cornelia de Lange syndrome.

Shi A, Levin AV

Ophthalmic genetics 2019; (40(1)):1-6 doi:10.1080/13816810.2019.1571617.

Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.

Cochran L, Welham A, Oliver C, et al.

Journal of autism and developmental disorders 2019; (49(6)):2476-2487 doi:10.1007/s10803-019-03966-6.

Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis.

Bergeron M, Chang K, Ishman SL

The Laryngoscope 2020; (130(4)):E122-E133 doi:10.1002/lary.28169.

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

Sarogni P, Pallotta MM, Musio A

Journal of medical genetics 2020; (57(5)):289-295 doi:10.1136/jmedgenet-2019-106277.

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Avagliano L, Parenti I, Grazioli P, et al.

Clinical genetics 2020; (97(1)):3-11 doi:10.1111/cge.13674.

Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus.

Erkus S, Turgut A, Onvural B, Kalenderer O

Journal of clinical orthopaedics and trauma 2020; (11(2)):307-309 doi:10.1016/j.jcot.2019.04.001.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Krab LC, Marcos-Alcalde I, Assaf M, et al.

Human genetics 2020; (139(5)):575-592 doi:10.1007/s00439-020-02138-2.

A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome.

Rodríguez P, Asturias K

Case reports in pediatrics 2020; (2020()):6482938 doi:10.1155/2020/6482938.

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Parma B, Cianci P, Mariani M, et al.

American journal of medical genetics. Part A 2020; (182(7)):1697-1703 doi:10.1002/ajmg.a.61625.

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Cucco F, Sarogni P, Rossato S, et al.

American journal of medical genetics. Part A 2020; (182(7)):1690-1696 doi:10.1002/ajmg.a.61611.

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.

Gonzalez Garcia A, Malone J, Li H

Cold Spring Harbor molecular case studies 2020; (6(3)) doi:10.1101/mcs.a005322.

Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.

Osko JD, Porter NJ, Decroos C, et al.

Journal of structural biology 2021; (213(1)):107681 doi:10.1016/j.jsb.2020.107681.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Latorre-Pellicer A, Gil-Salvador M, Parenti I, et al.

Scientific reports 2021; (11(1)):15459 doi:10.1038/s41598-021-94958-z.

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

Selicorni A, Mariani M, Lettieri A, Massa V

Genes 2021; (12(7)) doi:10.3390/genes12071075.

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

Ajmone PF, Allegri B, Cereda A, et al.

Journal of autism and developmental disorders 2022; (52(11)):4763-4773 doi:10.1007/s10803-021-05343-8.

Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.

Oliver C, Groves L, Hansen BD, et al.

American journal of medical genetics. Part A 2022; (188(3)):1005-1014 doi:10.1002/ajmg.a.62591.

Behavioral markers of social anxiety in Cornelia de Lange Syndrome: A brief systematic review.

Giani L, Michelini G, Nobile M, et al.

Journal of affective disorders 2022; (299()):636-643 doi:10.1016/j.jad.2021.12.099.

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.

Barañano KW, Kimball A, Fong SL, et al.

Journal of child neurology 2022; (37(5)):390-396 doi:10.1177/08830738221081244.

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.

Panarotto M, Davidson IF, Litos G, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(18)):e2201029119 doi:10.1073/pnas.2201029119.

Cornelia de Lange Syndrome.

Deschamps GN

Neonatal network : NN 2022; (41(3)):145-149 doi:10.1891/NN-2021-0011.

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Shangguan H, Chen R

Frontiers in pediatrics 2022; (10()):940294 doi:10.3389/fped.2022.940294.

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

Trujillano L, Ayerza-Casas A, Puisac B, et al.

The international journal of cardiovascular imaging 2022; (38(11)):2291-2302 doi:10.1007/s10554-022-02612-0.

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

Ascaso Á, Latorre-Pellicer A, Puisac B, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(2)):211-217 doi:10.4274/jcrpe.galenos.2022.2022-4-14.

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

Obara K, Abe E, Mamiya S, Toyoshima I

Molecular syndromology 2023; (14(1)):51-58 doi:10.1159/000525681.

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

Bozarth XL, Lopez J, Fang H, et al.

Genes 2023; (14(4)) doi:10.3390/genes14040852.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Gibellato E, Cianci P, Mariani M, et al.

American journal of medical genetics. Part A 2024; (194(7)):e63577 doi:10.1002/ajmg.a.63577.

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

Trujillano L, Ayerza-Casas A, Puisac B, et al.

Cureus 2024; (16(4)):e57378 doi:10.7759/cureus.57378.

Cornelia de Lange Spectrum.

Ascaso Á, Arnedo M, Puisac B, et al.

Anales de pediatria 2024; (100(5)):352-362 doi:10.1016/j.anpede.2024.04.012.

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

Santos NP, Silva LAF, Neves-Lobo IF, et al.

International archives of otorhinolaryngology 2024; (28(4)):e626-e633 doi:10.1055/s-0044-1788001.

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.

Sakata T, Tei S, Izumi K, et al.

Current biology : CB 2025; (35(6)):1353-1363.e5 doi:10.1016/j.cub.2025.01.044.

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Vilella T, Nunes BC, Del Valle GS, et al.

BMC ophthalmology 2025; (25(1)):567 doi:10.1186/s12886-025-04401-4.

Cornelia de Lange syndrome: What should a dermatologist know?

Shahada O, Kurdi A, Alrohaily L, et al.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2026; (35(1)):167-174 doi:10.17219/acem/201419.

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.

Mir A, Abbasi Z, Song Y, et al.

Journal of medical case reports 2026; (20(1)).

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Li Q, Chang G, Huang Y, et al.

European journal of pediatrics 2026; (185(6)).