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The epidemiology and etiology of adhesive capsulitis in the U.S. Medicare population

BMC musculoskeletal disorders, 2021-09, Vol.22 (1), p.1-828, Article 828

2021

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Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment

PloS one, 2019-03, Vol.14 (3), p.e0213921-e0213921

2019

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Development and Psychometric Testing of a Children's Version of the Herth Hope Index

Journal of nursing measurement, 2022-12, Vol.30 (4), p.627-644

2022

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Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome

Clinical genetics, 2023-10, Vol.104 (4), p.472-478

2023

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Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Human genetics, 2014-07, Vol.133 (7), p.847-859

2014

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Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.293-302

2018

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.310-316

2013

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Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics

Genetic testing and molecular biomarkers, 2023-05, Vol.27 (5), p.172-182

2023

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The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review

The pharmacogenomics journal, 2021-08, Vol.21 (4), p.409-422

2021

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Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor

Genes, 2023-02, Vol.14 (2), p.490

2023

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Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

Clinical genetics, 2023-08, Vol.104 (2), p.198-209

2023

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TOMM40 genetic variants associated with healthy aging and longevity: a systematic review

BMC geriatrics, 2022-08, Vol.22 (1), p.667-667, Article 667

2022

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Genetics providers’ experiences using telehealth: A grounded theory approach

Journal of genetic counseling, 2022-10, Vol.31 (5), p.1155-1163

2022

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Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

Pediatric nephrology (Berlin, West), 2024-03, Vol.39 (3), p.749-760

2024

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SARS-CoV-2 emergency use authorization published sensitivity differences do not correlate with positivity rate in a hospital/reference laboratory setting

Diagnostic microbiology and infectious disease, 2024-02, Vol.108 (2), p.116157-116157, Article 116157

2024

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Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review

Journal of eating disorders, 2024-04, Vol.12 (1), p.53-53, Article 53

2024

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Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

Genes, 2023-10, Vol.14 (11), p.1998

2023

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Factors related to initial treatment for adhesive capsulitis in the medicare population

BMC geriatrics, 2022-06, Vol.22 (1), p.1-548, Article 548

2022

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Authorized SARS-CoV-2 molecular methods show wide variability in the limit of detection

Diagnostic microbiology and infectious disease, 2023-03, Vol.105 (3), p.115880-115880, Article 115880

2023

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Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome

Genes, 2021-07, Vol.12 (8), p.1192

2021

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Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

Genes, 2023-02, Vol.14 (2), p.400

2023

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Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3884-3894

2021

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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

PloS one, 2021-07, Vol.16 (7), p.e0253859

2021

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Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors

Genes, 2022-03, Vol.13 (3), p.528

2022

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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

Journal of medical genetics, 2011-11, Vol.48 (11), p.761-766

2011

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The epidemiology and etiology of adhesive capsulitis in the U.S. Medicare population

Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment

Development and Psychometric Testing of a Children's Version of the Herth Hope Index

Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics

The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review

Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

TOMM40 genetic variants associated with healthy aging and longevity: a systematic review

Genetics providers’ experiences using telehealth: A grounded theory approach

Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

SARS-CoV-2 emergency use authorization published sensitivity differences do not correlate with positivity rate in a hospital/reference laboratory setting

Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review

Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

Factors related to initial treatment for adhesive capsulitis in the medicare population

Authorized SARS-CoV-2 molecular methods show wide variability in the limit of detection

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

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