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.

Neurodevelopmental behavioral and cognitive disorders.

Jeste SS

Continuum (Minneapolis, Minn.) 2015; (21(3 Behavioral Neurology and Neuropsychiatry)):690-714 doi:10.1212/01.CON.0000466661.89908.3c.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

Friez MJ, Brooks SS, Stevenson RE, et al.

BMJ open 2016; (6(4)):e009537 doi:10.1136/bmjopen-2015-009537.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Kim JH, Shinde DN, Reijnders MRF, et al.

American journal of human genetics 2016; (99(3)):711-719 doi:10.1016/j.ajhg.2016.06.029.

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Hegde M, Santani A, Mao R, et al.

Archives of pathology & laboratory medicine 2017; (141(6)):798-805 doi:10.5858/arpa.2016-0622-RA.

Preparing childhood cancer survivors for transition to adult care: The young adult perspective.

Frederick NN, Bober SL, Berwick L, et al.

Pediatric blood & cancer 2017; (64(10)) doi:10.1002/pbc.26544.

Evaluation of the Child With Developmental Impairments.

van Karnebeek CDM

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):228-247 doi:10.1212/CON.0000000000000564.

Effects of Interventions That Include Aided Augmentative and Alternative Communication Input on the Communication of Individuals With Complex Communication Needs: A Meta-Analysis.

O'Neill T, Light J, Pope L

Journal of speech, language, and hearing research : JSLHR 2018; (61(7)):1743-1765 doi:10.1044/2018_JSLHR-L-17-0132.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Carneiro TN, Krepischi AC, Costa SS, et al.

The application of clinical genetics 2018; (11()):93-98 doi:10.2147/TACG.S165799.

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Hu P, Martinez AF, Kruszka P, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):1015-1020 doi:10.1038/s41436-018-0261-8.

Systematic Review of Interventions Involving Aided AAC Modeling for Children With Complex Communication Needs.

Biggs EE, Carter EW, Gilson CB

American journal on intellectual and developmental disabilities 2018; (123(5)):443-473 doi:10.1352/1944-7558-123.5.443.

Supporting the Health Care Transition From Adolescence to Adulthood in the Medical Home.

White PH, Cooley WC, , et al.

Pediatrics 2018; (142(5)) doi:10.1542/peds.2018-2587.

Care Coordination Using a Shared Plan of Care Approach: From Model to Practice.

McAllister JW, Keehn RM, Rodgers R, Lock TM

Journal of pediatric nursing 2018; (43()):88-96 doi:10.1016/j.pedn.2018.09.009.

A pilot community-based randomized comparison of speech generating devices and the picture exchange communication system for children diagnosed with autism spectrum disorder.

Gilroy SP, Leader G, McCleery JP

Autism research : official journal of the International Society for Autism Research 2018; (11(12)):1701-1711 doi:10.1002/aur.2025.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Srivastava S, Love-Nichols JA, Dies KA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(11)):2413-2421 doi:10.1038/s41436-019-0554-6.

Genetic Counseling in Neurodevelopmental Disorders.

Blesson A, Cohen JS

Cold Spring Harbor perspectives in medicine 2020; (10(4)) doi:10.1101/cshperspect.a036533.

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Nguengang Wakap S, Lambert DM, Olry A, et al.

European journal of human genetics : EJHG 2020; (28(2)):165-173 doi:10.1038/s41431-019-0508-0.

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

Pasmant E, Pacot L

European journal of endocrinology 2020; (182(1)):C1-C3.

Transition to Adult Care.

Berens J, Wozow C, Peacock C

Physical medicine and rehabilitation clinics of North America 2020; (31(1)):159-170 doi:10.1016/j.pmr.2019.09.004.

A clinical primer on intellectual disability.

Patel DR, Cabral MD, Ho A, Merrick J

Translational pediatrics 2020; (9(Suppl 1)):S23-S35 doi:10.21037/tp.2020.02.02.

A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.

Tan Y, Duan L, Yang K, et al.

Journal of clinical laboratory analysis 2020; (34(8)):e23326 doi:10.1002/jcla.23326.

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.

Avnon T, Svirsky R, Orr-Urtreger A, et al.

Journal of pediatric genetics 2020; (9(2)):121-124 doi:10.1055/s-0039-1698445.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Tran Mau-Them F, Moutton S, Racine C, et al.

Human genetics 2020; (139(11)):1381-1390 doi:10.1007/s00439-020-02178-8.

Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.

Ueda M, Matsuki T, Fukada M, et al.

Molecular brain 2020; (13(1)):80 doi:10.1186/s13041-020-00622-4.

Influence of the detection of parent-of-origin on the pregnancy outcomes of fetuses with copy number variation of unknown significance.

Chen L, Wang L, Yin D, et al.

Scientific reports 2020; (10(1)):8864 doi:10.1038/s41598-020-65904-2.

A novel frame shift mutation in STIM1 gene causing primary immunodeficiency.

Derakhshan D, Taherifard E, Taherifard E, et al.

Intractable & rare diseases research 2020; (9(2)):109-112 doi:10.5582/irdr.2020.01020.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, et al.

American journal of medical genetics. Part A 2020; (182(9)):2077-2084 doi:10.1002/ajmg.a.61741.

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R, Smigiel R, Rydzanicz M, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1432 doi:10.1002/mgg3.1432.

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China.

Liang B, Wang Y, Lin N, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (510()):638-643 doi:10.1016/j.cca.2020.08.032.

Neurological phenotype of Potocki-Lupski syndrome.

Ciaccio C, Pantaleoni C, Milani D, et al.

American journal of medical genetics. Part A 2020; (182(10)):2317-2324 doi:10.1002/ajmg.a.61789.

Spoken Vocabulary Outcomes of Toddlers With Developmental Delay After Parent-Implemented Augmented Language Intervention.

Walters C, Sevcik RA, Romski M

American journal of speech-language pathology 2021; (30(3)):1023-1037 doi:10.1044/2020_AJSLP-20-00093.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Mighton C, Smith AC, Mayers J, et al.

Journal of medical genetics 2022; (59(6)):571-578 doi:10.1136/jmedgenet-2021-107738.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Zanoni P, Steindl K, Sengupta D, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(8)):1474-1483 doi:10.1038/s41436-021-01158-1.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam K, McClain MR, Demmer LA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(11)):2029-2037 doi:10.1038/s41436-021-01242-6.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Kushary ST, Revah-Politi A, Barua S, et al.

American journal of medical genetics. Part A 2021; (185(12)):3740-3753 doi:10.1002/ajmg.a.62445.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Dingemans AJM, Truijen KMG, Kim JH, et al.

European journal of human genetics : EJHG 2022; (30(3)):271-281 doi:10.1038/s41431-021-00960-4.

A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.

Dekker J, Diderich KEM, Schot R, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (35()):35-39 doi:10.1016/j.ejpn.2021.09.007.

A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.

Yi Z, Song Z, Li F, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2022; (82(3)):271-276 doi:10.1002/jdn.10170.

Health care transition from pediatric to adult care: an evidence-based guideline.

Pape L, Ernst G

European journal of pediatrics 2022; (181(5)):1951-1958 doi:10.1007/s00431-022-04385-z.

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Hunter JM, Massingham LJ, Manickam K, et al.

Cold Spring Harbor molecular case studies 2022; (8(2)) doi:10.1101/mcs.a006180.

Development of models of care coordination for rare conditions: a qualitative study.

Walton H, Simpson A, Ramsay AIG, et al.

Orphanet journal of rare diseases 2022; (17(1)):49 doi:10.1186/s13023-022-02190-3.

Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.

Juneja M, Gupta A, Sairam S, et al.

Indian pediatrics 2022; (59(5)):401-415.

Pre-hospital and emergency department treatment of convulsive status epilepticus in adults: an evidence synthesis.

Cruickshank M, Imamura M, Booth C, et al.

Health technology assessment (Winchester, England) 2022; (26(20)):1-76 doi:10.3310/RSVK2062.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

Ward AJ, Murphy D, Marron R, et al.

Orphanet journal of rare diseases 2022; (17(1)):162 doi:10.1186/s13023-022-02309-6.

Lessons learnt from prenatal exome sequencing.

Chandler NJ, Scotchman E, Mellis R, et al.

Prenatal diagnosis 2022; (42(7)):831-844 doi:10.1002/pd.6165.

Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report.

Hudec J, Kosinova M

Children (Basel, Switzerland) 2022; (9(6)) doi:10.3390/children9060869.

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Popp B, Brugger M, Poschmann S, et al.

Clinical genetics 2023; (103(2)):226-230 doi:10.1111/cge.14241.

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

Halliday BJ, Baynam G, Ewans L, et al.

AJNR. American journal of neuroradiology 2022; (43(11)):1660-1666 doi:10.3174/ajnr.A7663.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings.

Eid M, Bhatia S

Child neurology open 2022; (9()):2329048X221119658 doi:10.1177/2329048X221119658.

Comparing Interventions With Speech-Generating Devices and Other Augmentative and Alternative Communication Modes: A Meta-Analysis.

Pak NS, Bailey KM, Ledford JR, Kaiser AP

American journal of speech-language pathology 2023; (32(2)):786-802 doi:10.1044/2022_AJSLP-22-00220.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).

Carter MT, Srour M, Au PB, et al.

Journal of medical genetics 2023; (60(6)):523-532 doi:10.1136/jmg-2022-108962.

A multicenter clinical study on parent-implemented early intervention for children with global developmental delay.

Dong P, Xu Q, Zhang Y, et al.

Frontiers in pediatrics 2023; (11()):1052665 doi:10.3389/fped.2023.1052665.

Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.

Ko MH, Chen HJ

Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030501.

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, et al.

European journal of medical genetics 2023; (66(7)):104747 doi:10.1016/j.ejmg.2023.104747.

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review.

Harper L, McAnelly S, Walshe I, et al.

Journal of applied research in intellectual disabilities : JARID 2023; (36(5)):916-928 doi:10.1111/jar.13116.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Rots D, Jakub TE, Keung C, et al.

American journal of human genetics 2023; (110(6)):963-978 doi:10.1016/j.ajhg.2023.04.008.

Does pre-school developmental assessment agree with later intellectual assessment? A retrospective cohort study.

Karyadiguna N, Bernie C, Barnes EH, et al.

Journal of paediatrics and child health 2023; (59(8)):962-967 doi:10.1111/jpc.16428.

Assessment of Balance Parameters in Children with Weakened Axial Muscle Tone Undergoing Sensory Integration Therapy.

Jacewicz J, Dziuba-Słonina A, Chwałczyńska A

Children (Basel, Switzerland) 2023; (10(5)) doi:10.3390/children10050845.

Derivation and validation of a clinical prediction model for risk-stratification of children hospitalized with severe pneumonia in Bangladesh.

Mamun GMS, Zou M, Sarmin M, et al.

PLOS global public health 2023; (3(8)):e0002216 doi:10.1371/journal.pgph.0002216.

MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.

Corona-Rivera JR, Zenteno JC, Ordoñez-Labastida V, et al.

European journal of medical genetics 2023; (66(10)):104826 doi:10.1016/j.ejmg.2023.104826.

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Farman MR, Rehder C, Malli T, et al.

Bone 2024; (178()):116947 doi:10.1016/j.bone.2023.116947.

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

Liu L, Wang J, Liu X, et al.

Clinica chimica acta; international journal of clinical chemistry 2024; (552()):117671 doi:10.1016/j.cca.2023.117671.

A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.

Vukadin L, Park B, Mohamed M, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.11.19.567732.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Deshmukh SP, Couser NL

International journal of molecular epidemiology and genetics 2023; (14(3)):34-41.

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.

Efficacy of early clinical interventions for children with global developmental delay.

Li F, Tian J, Yuan F, et al.

The International journal of neuroscience 2025; (135(3)):280-286 doi:10.1080/00207454.2023.2298715.

Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.

Nishi E, Yanagi K, Kaname T, Okamoto N

Molecular genetics & genomic medicine 2024; (12(2)):e2396 doi:10.1002/mgg3.2396.

Caregiver Burden, Parenting Stress and Coping Strategies: The Experience of Parents of Children and Adolescents with Osteogenesis Imperfecta.

Aratti A, Zampini L

Healthcare (Basel, Switzerland) 2024; (12(10)) doi:10.3390/healthcare12101018.

Parents' expectations regarding case management for rare diseases in Switzerland: mixed-method findings from an online survey.

Von Mengershausen U, Streuli JC

Swiss medical weekly 2024; (154()):3401 doi:10.57187/s.3401.

Evaluation and management of dyspnea as the dominant presenting feature in neuromuscular disorders.

Mamarabadi M, Mauney S, Li Y, Aboussouan LS

Muscle & nerve 2024; (70(5)):916-928 doi:10.1002/mus.28243.

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

De Falco A, Minale EMP, Meossi C, et al.

American journal of medical genetics. Part A 2025; (197(4)):e63959 doi:10.1002/ajmg.a.63959.

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Dominicis A, Sparascio FP, Stregapede F, et al.

American journal of medical genetics. Part A 2025; (197(6)):e64010 doi:10.1002/ajmg.a.64010.

[Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].

Liu WN, Pi YL, Bai XY, Chen HF

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(3)):373-376 doi:10.7499/j.issn.1008-8830.2409076.

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.

Haque AF, Patel V, Bradford V

Cureus 2025; (17(4)):e82170 doi:10.7759/cureus.82170.

Generative Language Intervention for Young Children With Down Syndrome Using Augmentative and Alternative Communication: A Randomized Controlled Trial.

Kent-Walsh J, Harrington N, Hahs-Vaughn D, Binger C

Language, speech, and hearing services in schools 2025; (56(3)):542-564 doi:10.1044/2025_LSHSS-24-00117.

Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.

Evans W, Chauhan J, Imam A, Hayward J

Journal of community genetics 2025; (16(6)):747-757 doi:10.1007/s12687-025-00811-5.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Pisanò G, Cesaroni CA, Rizzi S, et al.

American journal of medical genetics. Part A 2025; (197(12)):e64196 doi:10.1002/ajmg.a.64196.

Novel Retrospective Perspectives of Healthcare Transitions From Emerging Adults With Chronic Conditions: A Quantitative Overview.

Lee J, Girdwood TC, Betz CL

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):e19-e30 doi:10.1016/j.pedhc.2025.10.003.

Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

Davis C, Bogaert L, Powell J, Low K

Journal of medical Internet research 2025; (27()):e77087 doi:10.2196/77087.

MaveMD: A functional data resource for genomic medicine.

McEwen AE, Stone J, Tejura M, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.11.15.25336228.

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, et al.

Annals of medicine 2026; (58(1)):2609424 doi:10.1080/07853890.2025.2609424.

Screening, Diagnosis, and Investigation of Global Developmental Delay and Intellectual Developmental Disorder.

Gouveia Lopes M, Alves AC, Pedrosa I, et al.

Cureus 2025; (17(12)):e99027 doi:10.7759/cureus.99027.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Maity S, Montion M, Boothe D, et al.

Frontiers in genetics 2025; (16()):1715229 doi:10.3389/fgene.2025.1715229.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

Zhu H, Feng T, Dong W, et al.

BMC neurology 2026; (26(1)):124 doi:10.1186/s12883-026-04649-3.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.

Li D, Zhang W, Mei H, et al.

Frontiers in psychiatry 2025; (16()):1707837 doi:10.3389/fpsyt.2025.1707837.

Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant.

Isayev C, Haciyeva I, Hasanov E, et al.

Cureus 2026; (18(2)):e103917 doi:10.7759/cureus.103917.

A tiered decisional framework for genetic epileptic syndromes with or without encephalopathies: from standard care to investigational strategies.

Perilli L, Ferretti A, Riva A, et al.

Expert review of clinical pharmacology 2026; (19(4)):383-401 doi:10.1080/17512433.2026.2652967.

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Semyachkina AN, Nikolaeva EA, Gritsevskaya DI, et al.

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

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Li MH, Coleman DL, Hogan K, et al.

American journal of medical genetics. Part A 2026; (200(9)):2010-2018 doi:10.1002/ajmg.a.70127.

Effectiveness of Early Intervention Programs for Young Children with Global Developmental Delay: A Systematic Review :.

Almuhanna SM, Alshehri OA, B Alsaadoon BM, et al.

Galen medical journal 2025; (14()):e3906 doi:10.31661/gmj.vi.3906.

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

Carelli I, Rondot F, Luca M, et al.

European journal of medical genetics 2026; (82()):105085 doi:10.1016/j.ejmg.2026.105085.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Jędrzejowska M, Madej-Pilarczyk A, Babameto-Laku A, et al.

Balkan journal of medical genetics : BJMG 2025; (28(2)):21-24 doi:10.2478/bjmg-2025-00020.

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.

Xu S, Li G, He Y, et al.

Molecular genetics & genomic medicine 2026; (14(6)):e70238 doi:10.1002/mgg3.70238.

Research Review: Emotion regulation in individuals with intellectual disability - an integrative review.

Ferguson EF, Nuske HJ, Hardan AY, Gross JJ

Journal of child psychology and psychiatry, and allied disciplines 2026; (67(10)):1766-1784 doi:10.1111/jcpp.70177.

A Practical Care Coordination Tool for Children with Medical Complexity: Development, Stakeholder Evaluation, and a Proposal for Pilot Implementation.

Salazar C, Schrader K

Comprehensive child and adolescent nursing 2026; (49(3)):218-243 doi:10.1080/24694193.2026.2699118.

Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report.

Rodríguez-Guerrero AM, Romero Valdez A, Rodríguez-Guerrero M, et al.

Frontiers in pediatrics 2026; (14()):1869053 doi:10.3389/fped.2026.1869053.

Resolution of the Diagnostic Odyssey in a Familial Form of Hackmann-Di Donato Syndrome With Structural Brain Abnormalities.

Gérard C, Olinger E, Dumitriu D, et al.

American journal of medical genetics. Part A 2026; doi:10.1002/ajmg.a.70263.

Participant feedback on a health care transition conference for youth with medical complexity.

Hopson B, Brouillette J, Shi J, et al.

Health care transitions 2026; (4()):100151 doi:10.1016/j.hctj.2026.100151.

Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.

Klein Haneveld MJ, Cox L, Embregts PJCM, et al.

Journal of intellectual disability research : JIDR 2026; (70(9)):913-922 doi:10.1111/jir.70150.

Bridging medicine and education for global developmental delay: a cluster sampling study on screening, diagnosis, and intervention in preschool children.

Zhang Y, Zhang L

Frontiers in public health 2026; (14()):1860897 doi:10.3389/fpubh.2026.1860897.

Facebook as a Lifeboat: An Interview Study Exploring the Role of Facebook in Supporting Parents of Children with Rare Diseases.

Victor B, Yilmaz NG, Hoving C, et al.

Journal of health communication 2026; 1-13 doi:10.1080/10810730.2026.2723703.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Kong Y, Wang Y, Wang X, et al.

Human mutation 2026; (2026()):1637135 doi:10.1155/humu/1637135.

HUWE1 interactomes reveal sex-specific networks of nucleic acid-binding proteins.

Diaz Escarcega R, M J VK, Abdul A, et al.

Molecular and cellular neurosciences 2026; (139()):104115 doi:10.1016/j.mcn.2026.104115.

Growth outcomes following recombinant human growth hormone therapy in Zhu-Tokita-Takenouchi-Kim syndrome.

Lee SC, Muflihi Y, Mohammed Z, et al.

JCEM case reports 2026; (4(10)):luag247 doi:10.1210/jcemcr/luag247.

Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.

Rijo C, Carocha A, Freire I, et al.

BMJ case reports 2026; (19(9)) doi:10.1136/bcr-2026-274853.

ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone's Complex With a Novel SON Variant and Focused Review of the Cardiac Manifestations in ZTTK Syndrome.

Coleman J, Shakerdi AL, Dvorakova V, Kenny J

Case reports in genetics 2026; (2026()):3473063 doi:10.1155/crig/3473063.

Diagnostic Yield and Clinical Utility of Chromosomal Microarray Analysis (CMA) in Children With Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder: A Systematic Review.

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Cureus 2026; (18(8)):e115483 doi:10.7759/cureus.115483.