Katie L. Lewis
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View article: ‘Seize the opportunity, you never know where it may take you'
‘Seize the opportunity, you never know where it may take you' Open
View article: “I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity Open
View article: Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia
Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia Open
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN , presents…
View article: P618: Misuse of opportunistic screening highlights shortcomings in clinical ascertainment
P618: Misuse of opportunistic screening highlights shortcomings in clinical ascertainment Open
View article: “I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation to inborn errors of immunity
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation to inborn errors of immunity Open
Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences int…
View article: Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome Open
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant …
View article: Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre–post analysis
Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre–post analysis Open
Psychiatric genetic counseling (GC) has been associated with patient‐reported increases in empowerment (perceived control, emotional regulation, and hope). We sought to evaluate the extent to which patients' psychological state at the time…
View article: ‘Spill the T’ – a case series of the morphology of T cell lymphomas in leukaemic phase
‘Spill the T’ – a case series of the morphology of T cell lymphomas in leukaemic phase Open
View article: One GATA2 three… a case series of hematologic presentations in GATA2 deficiency
One GATA2 three… a case series of hematologic presentations in GATA2 deficiency Open
View article: Table of Contents
Table of Contents Open
View article: Elective genomic testing: Practice resource of the National Society of Genetic Counselors
Elective genomic testing: Practice resource of the National Society of Genetic Counselors Open
Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic condi…
View article: Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study
Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study Open
Introduction: Early adopters play a critical role in the diffusion of medical innovations by spreading awareness, increasing acceptability, and driving demand. Understanding the role of race in the context of other characteri…
View article: Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study
Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study Open
INTRODUCTION: Early adopters play a critical role in the diffusion of medical innovations by spreading awareness, increasing acceptability, and driving demand. Understanding the role of race in the context of other characteristics of poten…
View article: Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry
Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry Open
Background Future-oriented emotions are associated with consequential health decision-making, including genomic testing decisions. However, little is known about the relative role of various future-oriented emotions in such decisions. More…
View article: LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea
LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea Open
Introduction Functional hypothalamic amenorrhea (HA) is commonly associated with increased exercise or decreased caloric intake and often with stress. We have previously demonstrated an increased burden of rare sequence variants (RSVs) in …
View article: At the Intersection of Deep Learning and Conceptual Art: The End of Signature
At the Intersection of Deep Learning and Conceptual Art: The End of Signature Open
MIT wanted to commission a large scale artwork that would serve to 'illuminate a new campus gateway, inaugurate a space of exchange between MIT and Cambridge, and inspire our students, faculty, visitors, and the surrounding community to en…
View article: The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort Open
View article: The role of future-oriented affect in engagement with genomic testing results
The role of future-oriented affect in engagement with genomic testing results Open
View article: A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings Open
View article: Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing
Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing Open
Although romantic couple concordance has been demonstrated across a wide array of health behaviors , little research has examined dyadic concordance in health beliefs . This study examined the extent to which cohabitating romantic dyads’ a…
View article: Engagement and return of results preferences among a primarily African American genomic sequencing research cohort
Engagement and return of results preferences among a primarily African American genomic sequencing research cohort Open
View article: Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort Open
Although genetic counseling is traditionally done through in‐person, one‐on‐one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in‐person return of cancer genetic results are e…
View article: Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling
Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling Open
The concept of therapeutic alliance is central to genetic counseling as the mechanism through which the outcomes of empowerment and effective coping are likely to be achieved. To date, there have been no published systematic assessments of…
View article: Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium
Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium Open
Introduction: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally,…
View article: Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea Open
Context Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA herita…
View article: Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results
Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results Open
View article: Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis
Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis Open
Significance In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk lo…
View article: Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data
Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data Open
Supplemental table and associated references
View article: Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data
Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data Open
Supplemental table and associated references
View article: Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data
Burden of Rare Variants in Hypothalamic Amenorrhea-Supplemental data Open
Supplemental table and associated references