Research & Literature

Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.

Helm BM

Journal of genetic counseling 2015; (24(2)):205-12 doi:10.1007/s10897-014-9812-6.

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.

Santos-Rebouças CB, de Almeida LG, Belet S, et al.

Journal of human genetics 2015; (60(4)):207-11 doi:10.1038/jhg.2015.1.

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Evers C, Mitter D, Strobl-Wildemann G, et al.

American journal of medical genetics. Part A 2015; (167A(3)):553-62 doi:10.1002/ajmg.a.36897.

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Fieremans N, Van Esch H, de Ravel T, et al.

European journal of medical genetics 2015; (58(5)):324-7.

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Moey C, Hinze SJ, Brueton L, et al.

European journal of human genetics : EJHG 2016; (24(3)):373-80 doi:10.1038/ejhg.2015.123.

Management of Functional Constipation in Children: Therapy in Practice.

Koppen IJ, Lammers LA, Benninga MA, Tabbers MM

Paediatric drugs 2015; (17(5)):349-60 doi:10.1007/s40272-015-0142-4.

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH, Kasparis C, Chen B, et al.

Journal of human genetics 2015; (60(11)):717-22 doi:10.1038/jhg.2015.103.

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Grams SE, Argiropoulos B, Lines M, et al.

American journal of medical genetics. Part A 2016; (170A(4)):967-77 doi:10.1002/ajmg.a.37519.

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Rosell AM, Pena LD, Schoch K, et al.

Journal of genetic counseling 2016; (25(5)):1019-31 doi:10.1007/s10897-016-9933-1.

Treatment of Convulsive Status Epilepticus.

Grover EH, Nazzal Y, Hirsch LJ

Current treatment options in neurology 2016; (18(3)):11 doi:10.1007/s11940-016-0394-5.

Visual attention and academic performance in children with developmental disabilities and behavioural attention deficits.

Kirk HE, Gray K, Riby DM, et al.

Developmental science 2017; (20(6)) doi:10.1111/desc.12468.

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

Sansović I, Ivankov AM, Bobinec A, et al.

Croatian medical journal 2017; (58(3)):231-238 doi:10.3325/cmj.2017.58.231.

Pretreatment seizure semiology in childhood absence epilepsy.

Kessler SK, Shinnar S, Cnaan A, et al.

Neurology 2017; (89(7)):673-679 doi:10.1212/WNL.0000000000004226.

Landscape of X chromosome inactivation across human tissues.

Tukiainen T, Villani AC, Yen A, et al.

Nature 2017; (550(7675)):244-248 doi:10.1038/nature24265.

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

d'Orsi G, Martino T, Palumbo O, et al.

Seizure 2017; (53()):86-93 doi:10.1016/j.seizure.2017.11.009.

School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD.

Chiang HL, Kao WC, Chou MC, et al.

Autism research : official journal of the International Society for Autism Research 2018; (11(6)):857-869 doi:10.1002/aur.1923.

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.

Arican P, Cavusoglu D, Gencpinar P, et al.

Journal of pediatric genetics 2018; (7(2)):74-77 doi:10.1055/s-0037-1612598.

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.

Management of Childhood Functional Constipation: Consensus Practice Guidelines of Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition and Pediatric Gastroenterology Chapter of Indian Academy of Pediatrics.

Yachha SK, Srivastava A, Mohan N, et al.

Indian pediatrics 2018; (55(10)):885-892.

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Adams D, Hastings RP, Alston-Knox C, et al.

Orphanet journal of rare diseases 2018; (13(1)):185 doi:10.1186/s13023-018-0924-1.

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.

Patient-Centered Goal Setting in Developmental Therapy: Discordance between Documented Goals and Caregiver-Perceived Goals.

Angeli JM, Harpster K, Huijs L, et al.

Pediatric quality & safety 2019; (4(4)):e199 doi:10.1097/pq9.0000000000000199.

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):245-257 doi:10.1038/s41436-019-0686-8.

ICF-inspired goal-setting in developmental rehabilitation: an innovative framework for pediatric therapists.

Angeli JM, Schwab SM, Huijs L, et al.

Physiotherapy theory and practice 2021; (37(11)):1167-1176 doi:10.1080/09593985.2019.1692392.

Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age.

Zito A, Davies MN, Tsai PC, et al.

Nature communications 2019; (10(1)):5339 doi:10.1038/s41467-019-13340-w.

Drug Treatment of Progressive Myoclonic Epilepsy.

Holmes GL

Paediatric drugs 2020; (22(2)):149-164 doi:10.1007/s40272-019-00378-y.

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.

Wang Q, Chen P, Liu J, et al.

BMC medical genomics 2020; (13(1)):66 doi:10.1186/s12920-020-0728-8.

Genetic Testing in Neurodevelopmental Disorders.

Savatt JM, Myers SM

Frontiers in pediatrics 2021; (9()):526779 doi:10.3389/fped.2021.526779.

Paediatrics: how to manage functional constipation.

Leung AK, Hon KL

Drugs in context 2021; (10()) doi:10.7573/dic.2020-11-2.

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Czakó M, Till Á, Zima J, et al.

Frontiers in genetics 2021; (12()):635458 doi:10.3389/fgene.2021.635458.

The Role of Cell Division Autoantigen 1 (CDA1) in Renal Fibrosis of Diabetic Nephropathy.

Chen L, Wu J, Hu B, et al.

BioMed research international 2021; (2021()):6651075 doi:10.1155/2021/6651075.

Children and adolescents with neurodevelopmental disorders show cognitive heterogeneity and require a person-centered approach.

Márquez-Caraveo ME, Rodríguez-Valentín R, Pérez-Barrón V, et al.

Scientific reports 2021; (11(1)):18463 doi:10.1038/s41598-021-97551-6.

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.

Zhang K, Lin G, Han D, et al.

Frontiers in genetics 2022; (13()):829728 doi:10.3389/fgene.2022.829728.

New-Onset Seizures as an Acute Presentation With Atypical EEG Findings in a Previously Healthy Child With Asymptomatic COVID-19 Infection.

Akbar A, Ahmad S

Cureus 2022; (14(3)):e22899 doi:10.7759/cureus.22899.

Classification, prevalence and integrated care for neurodevelopmental and child mental health disorders: A brief overview for paediatricians.

Ogundele MO, Morton M

World journal of clinical pediatrics 2022; (11(2)):120-135 doi:10.5409/wjcp.v11.i2.120.

Pharmacotherapy of Attention-Deficit/Hyperactivity Disorder in Individuals with Autism Spectrum Disorder.

Joshi G, Wilens TE

Child and adolescent psychiatric clinics of North America 2022; (31(3)):449-468 doi:10.1016/j.chc.2022.03.012.

Staring Spells: How to Distinguish Epileptic Seizures from Nonepileptic Staring.

Kim S, Degrauw T, Berg AT, Koh S

Journal of child neurology 2022; (37(8-9)):738-743 doi:10.1177/08830738221103090.

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Kingdom R, Wright CF

Frontiers in genetics 2022; (13()):920390 doi:10.3389/fgene.2022.920390.

Optimal Management of Status Epilepticus in Children in the Emergency Setting: A Review of Recent Advances.

Messahel S, Bracken L, Appleton R

Open access emergency medicine : OAEM 2022; (14()):491-506 doi:10.2147/OAEM.S293258.

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.

Participant characteristics predicting communication outcomes in AAC implementation for individuals with ASD and IDD: a systematic review and meta-analysis.

Ganz JB, Pustejovsky JE, Reichle J, et al.

Augmentative and alternative communication (Baltimore, Md. : 1985) 2023; (39(1)):7-22 doi:10.1080/07434618.2022.2116355.

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

Kolvenbach CM, Felger T, Schierbaum L, et al.

Journal of medical genetics 2023; (60(6)):587-596 doi:10.1136/jmg-2022-108738.

The different clinical facets of SYN1-related neurodevelopmental disorders.

Parenti I, Leitão E, Kuechler A, et al.

Frontiers in cell and developmental biology 2022; (10()):1019715 doi:10.3389/fcell.2022.1019715.

Duration of epileptic seizure types: A data-driven approach.

Meritam Larsen P, Wüstenhagen S, Terney D, et al.

Epilepsia 2023; (64(2)):469-478 doi:10.1111/epi.17492.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Santos-Rebouças CB, Boy R, Fernandes GNS, et al.

European journal of medical genetics 2023; (66(4)):104716 doi:10.1016/j.ejmg.2023.104716.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Racine C, Denommé-Pichon AS, Engel C, et al.

Journal of medical genetics 2023; (61(1)):36-46 doi:10.1136/jmg-2023-109170.

How do parents frame their engagement experience in early intervention? A grounded theory study.

Harniess PA, Basu AP, Bezemer J, Gibbs D

Disability and rehabilitation 2024; (46(14)):3067-3076 doi:10.1080/09638288.2023.2242788.

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.

Psychiatric Features of Children with Chronic Functional Constipation: Focusing on Individuals with Autism Spectrum Disorder.

Akama F, Mikami K, Orihashi Y, et al.

Journal of autism and developmental disorders 2025; (55(2)):585-591 doi:10.1007/s10803-023-06228-8.

Navigating Neurogenetics for Child and Adolescent Psychiatry Practice.

Hauptman AJ, Salpekar JA, Cohen JS, Asato MR

Journal of the American Academy of Child and Adolescent Psychiatry 2024; (63(7)):666-669 doi:10.1016/j.jaac.2023.09.555.

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.

Fadra N, Schultz-Rogers LE, Chanana P, et al.

BMC genomics 2024; (25(1)):371 doi:10.1186/s12864-024-10240-2.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Wang Y, Ma Q, Chen J, et al.

BMC pediatrics 2024; (24(1)):631 doi:10.1186/s12887-024-05088-0.

[Leading symptom: motor manifestations with impaired consciousnes : Management of epileptic seizures and status epilepticus].

Möller L, Jünemann C, Claudi C, Schramm P

Medizinische Klinik, Intensivmedizin und Notfallmedizin 2025; (120(2)):103-109 doi:10.1007/s00063-024-01223-y.

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Tolmacheva EN, Kashevarova AA, Fonova EA, et al.

Molecular cytogenetics 2025; (18(1)):3 doi:10.1186/s13039-025-00703-w.

Early Manifestations of Neurodevelopmental Copy Number Variants in Children: A Population-Based Investigation.

Dennison CA, Martin J, Shakeshaft A, et al.

Biological psychiatry 2025; (98(12)):924-933 doi:10.1016/j.biopsych.2025.03.004.

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context.

Peeters S, Baldry S, Korecki AJ, et al.

Human molecular genetics 2025; (34(11)):978-989 doi:10.1093/hmg/ddaf049.

Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy.

Beniczky S, Trinka E, Wirrell E, et al.

Epilepsia 2025; (66(6)):1804-1823 doi:10.1111/epi.18338.

Overcoming barriers to literacy for individuals who need or use AAC: lived experiences, key research findings, and future directions.

Light J, Holyfield C, McNaughton D, et al.

Augmentative and alternative communication (Baltimore, Md. : 1985) 2025; (41(3)):283-294 doi:10.1080/07434618.2025.2502032.

External challenges for individuals who need or use AAC who are learning language: lived experiences, key research findings, and future directions.

Holyfield C, Light J, Nieder D, Preece J

Augmentative and alternative communication (Baltimore, Md. : 1985) 2025; (41(3)):267-279 doi:10.1080/07434618.2025.2508485.

My A-T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia.

Khan M, Cassidy E, Parkin T, et al.

Orphanet journal of rare diseases 2025; (20(1)):397 doi:10.1186/s13023-025-03919-6.

What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.

Lee SA, Park S, So MK, et al.

Journal of community genetics 2025; (16(6)):787-797 doi:10.1007/s12687-025-00827-x.

Status epilepticus: Updates on mechanisms and treatments.

Joshi S, Kapur J

Epilepsia open 2025; doi:10.1002/epi4.70146.

Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report.

Zhang LJ, Liu WL, Shao SY, et al.

Molecular cytogenetics 2025; (18(1)):24 doi:10.1186/s13039-025-00729-0.

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.