Angela E. Lin
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View article: Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of <scp> <i>SMAD</i> 4 </scp> Gain‐of‐Function Pathophysiology
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of <span> <i>SMAD</i> 4 </span> Gain‐of‐Function Pathophysiology Open
Pathologic studies of Myhre syndrome (OMIM 139201) have provided modest insights into this ultra‐rare multisystem disorder, with postmortem examinations being scarce. Morbidity is related to severe congenital heart defects, aortic hypoplas…
View article: Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics Open
View article: Comparison of laparoscopic vs. robotic sentinel lymph node mapping and biopsy in endometrial cancer
Comparison of laparoscopic vs. robotic sentinel lymph node mapping and biopsy in endometrial cancer Open
View article: Maternal Exposure to Tap Water Disinfection By‐Products and Risk of Selected Congenital Heart Defects
Maternal Exposure to Tap Water Disinfection By‐Products and Risk of Selected Congenital Heart Defects Open
Background The use of chlorine to treat drinking water produces disinfection by‐products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies. Methods Using National Birth Defects Prevention Study data, w…
View article: SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Open
View article: Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types Open
View article: Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well‐Being
Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well‐Being Open
View article: Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) Open
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4 . Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syn…
View article: Clinical practice guidelines for the care of girls and women with Turner syndrome
Clinical practice guidelines for the care of girls and women with Turner syndrome Open
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics …
View article: Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses<i>in vivo</i>and<i>in vitro</i>in four human cell types
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses<i>in vivo</i>and<i>in vitro</i>in four human cell types Open
Summary Recent in vitro studies of human sex chromosome aneuploidy showed that the Xi (“inactive” X) and Y chromosomes broadly modulate autosomal and Xa (“active” X) gene expression in two cell types. We tested these findings in vivo in tw…
View article: Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits Open
Our findings support a polygenic nature of cNCS risk and functional role of craniofacial enhancers in cNCS susceptibility with potential broader implications for bone health.
View article: The human Y and inactive X chromosomes similarly modulate autosomal gene expression
The human Y and inactive X chromosomes similarly modulate autosomal gene expression Open
View article: Precision-guided treatment improves outcomes for children with high-risk cancers
Precision-guided treatment improves outcomes for children with high-risk cancers Open
Recent reports have shown that precision medicine can identify new treatment strategies for childhood cancer patients. However, it remains unclear which patients will benefit most from precision-guided treatment (PGT). Here we report 384 c…
View article: Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome Open
FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #…
View article: The human Y and inactive X chromosomes similarly modulate autosomal gene expression
The human Y and inactive X chromosomes similarly modulate autosomal gene expression Open
SUMMARY Somatic cells of human males and females have 45 chromosomes in common, including the “active” X chromosome. In males the 46 th chromosome is a Y; in females it is an “inactive” X (Xi). Through linear modeling of autosomal gene exp…
View article: Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network Open
The lack of United States population‐based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000–2017 data from seven birth defects surveill…
View article: Clinical and Immunologic Phenotype of Patients with SMAD4 Gain-of-Function Mutations
Clinical and Immunologic Phenotype of Patients with SMAD4 Gain-of-Function Mutations Open
View article: Issue Information
Issue Information Open
View article: P354: An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces
P354: An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces Open
View article: Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia
Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia Open
View article: Multiplex Base-Editing Enables Combinatorial Epigenetic Regulation for Genome Mining of Fungal Natural Products
Multiplex Base-Editing Enables Combinatorial Epigenetic Regulation for Genome Mining of Fungal Natural Products Open
Genome mining of cryptic natural products (NPs) remains challenging, especially in filamentous fungi, owing to their complex genetic regulation. Increasing evidence indicates that several epigenetic modifications often act cooperatively to…
View article: Virtual Cohort Assembly Discovery Phase Report: National Community Needs & Candidate Solutions
Virtual Cohort Assembly Discovery Phase Report: National Community Needs & Candidate Solutions Open
The Human Genomes Platform Project (HGPP) is a nationally-funded collaborative research project aiming to enhance capability for securely and responsibly sharing human genomics research data. National and international connectivity will ma…
View article: Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome Open
Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. Examination, multimodal imaging, and genetic testing were used to gui…
View article: Human Genomes Platform Project: Federated Identity and Access Management (IAM) Discovery Phase Report
Human Genomes Platform Project: Federated Identity and Access Management (IAM) Discovery Phase Report Open
The Human Genomes Platform Project (HGPP) is an Australian nationally-funded collaborative research project aiming to enhance capability for securely and responsibly sharing human genomics research data. National and international connecti…
View article: Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy
Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy Open
View article: Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights Open
Background About 20%–30% of children with birth defects have multiple major birth defects in more than one organ system, often referred to as multiple congenital anomalies (MCAs). Evaluating the patterns of MCAs can provide clues to the un…
View article: Use of vasoactive medications in pregnancy and the risk of stillbirth among birth defect cases
Use of vasoactive medications in pregnancy and the risk of stillbirth among birth defect cases Open
Background Many previous studies have identified risk factors for stillbirth, but few examine stillbirth among pregnancies affected with birth defects. Because many hypothesized etiologies of stillbirth work through vascular pathologies of…
View article: LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome
LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome Open
View article: In the Field of Integrated Circuits Based on Machine Learning and Feature Matching Evaluation and Identification of Potential High-Value Patents
In the Field of Integrated Circuits Based on Machine Learning and Feature Matching Evaluation and Identification of Potential High-Value Patents Open
View article: Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome Open
Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. Examination, multimodal imaging, and genetic testing were used to gui…