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  1. Article ; Online: 2020 McKusick Award address.

    Byers, Peter H

    American journal of human genetics

    2021  Volume 108, Issue 5, Page(s) 761–763

    Abstract: This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website. ...

    Abstract This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.
    MeSH term(s) Awards and Prizes ; Genetics, Medical/history ; History, 20th Century ; Societies, Scientific ; United States
    Language English
    Publishing date 2021-05-16
    Publishing country United States
    Document type Address ; Autobiography ; Historical Article ; Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2021.03.021
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  2. Article: Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null

    Shalhub, Sherene / Byers, Peter H

    Journal of vascular surgery cases and innovative techniques

    2023  Volume 9, Issue 2, Page(s) 101192

    Abstract: Endovascular repair is avoided in patients with connective tissues disorders due to concerns for stent graft migration and endoleaks. We describe a successful endovascular repair of a common iliac artery aneurysm with a bifurcated aortoiliac stent graft ... ...

    Abstract Endovascular repair is avoided in patients with connective tissues disorders due to concerns for stent graft migration and endoleaks. We describe a successful endovascular repair of a common iliac artery aneurysm with a bifurcated aortoiliac stent graft and iliac branch endoprosthesis in a patient with Vascular Ehlers-Danlos syndrome (VEDS) due to a null
    Language English
    Publishing date 2023-04-20
    Publishing country United States
    Document type Case Reports
    ISSN 2468-4287
    ISSN 2468-4287
    DOI 10.1016/j.jvscit.2023.101192
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  3. Article ; Online: Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

    Zschocke, Johannes / Byers, Peter H / Wilkie, Andrew O M

    Nature reviews. Genetics

    2023  Volume 24, Issue 7, Page(s) 442–463

    Abstract: Understanding the consequences of genotype for phenotype (which ranges from molecule-level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many measures of the deleteriousness of individual alleles exist, but these ... ...

    Abstract Understanding the consequences of genotype for phenotype (which ranges from molecule-level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many measures of the deleteriousness of individual alleles exist, but these have limitations for predicting the clinical consequences. Various mechanisms can protect the organism from the adverse effects of functional variants, especially when the variant is paired with a wild type allele. Understanding why some alleles are harmful in the heterozygous state - representing dominant inheritance - but others only with the biallelic presence of pathogenic variants - representing recessive inheritance - is particularly important when faced with the deluge of rare genetic alterations identified by high throughput DNA sequencing. Both awareness of the specific quantitative and/or qualitative effects of individual variants and the elucidation of allelic and non-allelic interactions are essential to optimize genetic diagnosis and counselling.
    MeSH term(s) Genetics, Medical ; Genotype ; Phenotype ; Mutation ; Alleles
    Language English
    Publishing date 2023-02-20
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/s41576-023-00574-0
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  4. Article ; Online: Gregor Mendel and the concepts of dominance and recessiveness.

    Zschocke, Johannes / Byers, Peter H / Wilkie, Andrew O M

    Nature reviews. Genetics

    2022  Volume 23, Issue 7, Page(s) 387–388

    Language English
    Publishing date 2022-05-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/s41576-022-00495-4
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  5. Article: Operative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy.

    French, Bryce L / Menghini, Anthony M / Burke, Christopher R / Byers, Peter H / Shalhub, Sherene

    Journal of vascular surgery cases and innovative techniques

    2022  Volume 9, Issue 3, Page(s) 101081

    Abstract: True intrathoracic subclavian artery aneurysms (SCAAs) are rare and have various etiologies. Right intrathoracic SCAAs pose specific anatomic challenges to repair. We present three different operative approaches, open, endovascular, and hybrid repair, ... ...

    Abstract True intrathoracic subclavian artery aneurysms (SCAAs) are rare and have various etiologies. Right intrathoracic SCAAs pose specific anatomic challenges to repair. We present three different operative approaches, open, endovascular, and hybrid repair, for the repair of a right intrathoracic SCAA in three patients with genetic arteriopathy: Marfan syndrome, vascular Ehlers-Danlos syndrome, and unspecified Ehlers-Danlos syndrome, respectively. These cases demonstrate an individualized operative approach based on the genetic diagnosis for each patient presenting with a right intrathoracic SCAA.
    Language English
    Publishing date 2022-12-17
    Publishing country United States
    Document type Case Reports
    ISSN 2468-4287
    ISSN 2468-4287
    DOI 10.1016/j.jvscit.2022.11.018
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  6. Article ; Online: Orthopaedic Conditions Associated with Aneurysms.

    Marrache, Majd / Byers, Peter H / Sponseller, Paul D

    JBJS reviews

    2020  Volume 8, Issue 6, Page(s) e0122

    Abstract: Orthopaedic surgeons are sometimes the first specialists encountered by patients with inherited conditions that predispose them to aneurysms. The skeletal features are evident, but the aneurysm is silent. Early recognition of the conditions associated ... ...

    Abstract Orthopaedic surgeons are sometimes the first specialists encountered by patients with inherited conditions that predispose them to aneurysms. The skeletal features are evident, but the aneurysm is silent. Early recognition of the conditions associated with aneurysms can lead to effective treatment and minimize risks of morbidity and death. Marfan syndrome is characterized by abnormal fibrillin-1 protein and has a broad range of skeletal manifestations, including scoliosis, hindfoot deformity, arachnodactyly, pectus excavatum or carinatum deformity, dural ectasia, and acetabular protrusio. Aneurysm-associated complications are the leading cause of early morbidity and death in patients with Marfan syndrome. Ehlers-Danlos syndrome is caused by a disturbance in collagen biosynthesis most commonly resulting in joint hypermobility and skin abnormalities. Among the types of Ehlers-Danlos syndrome, vascular Ehlers-Danlos syndrome presents the highest risk of vascular complications. Clubfoot and joint dislocations are common presenting symptoms in vascular Ehlers-Danlos syndrome. Loeys-Dietz syndrome is a connective tissue disorder resulting in aortic root dilation and several skeletal manifestations, including scoliosis, cervical malformations, joint contractures, and foot deformities.
    MeSH term(s) Aneurysm/etiology ; Ehlers-Danlos Syndrome/complications ; Humans ; Loeys-Dietz Syndrome ; Marfan Syndrome/complications
    Language English
    Publishing date 2020-12-04
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2329-9185
    ISSN (online) 2329-9185
    DOI 10.2106/JBJS.RVW.19.00122
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  7. Article: Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome.

    Dittman, James M / Saldana-Ruiz, Nallely / Newhall, Karina / Byers, Peter H / Starnes, Benjamin W / Shalhub, Sherene

    Journal of vascular surgery cases and innovative techniques

    2023  Volume 9, Issue 2, Page(s) 101194

    Abstract: Vascular Ehlers-Danlos syndrome (VEDS) is rare, affecting an estimated 1 per 50,000 individuals, and is associated with abdominal aortic aneurysms (AAAs), among other arteriopathies. We present three patients with genetically confirmed VEDS who underwent ...

    Abstract Vascular Ehlers-Danlos syndrome (VEDS) is rare, affecting an estimated 1 per 50,000 individuals, and is associated with abdominal aortic aneurysms (AAAs), among other arteriopathies. We present three patients with genetically confirmed VEDS who underwent successful open AAA surgical repair and demonstrate that elective open AAA repair with careful tissue manipulation is safe and feasible for patients with VEDS. These cases also demonstrate that the VEDS genotype is associated with the aortic tissue quality (genotype-surgical phenotype correlation), with the most friable tissue encountered in the patient with a large amino acid substitution and the least friable tissue in the patient with a null (haploinsufficiency) variant.
    Language English
    Publishing date 2023-04-26
    Publishing country United States
    Document type Case Reports
    ISSN 2468-4287
    ISSN 2468-4287
    DOI 10.1016/j.jvscit.2023.101194
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  8. Article ; Online: Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.

    Shalhub, Sherene / Nkansah, Reginald / El-Ghazali, Asmaa / Hillenbrand, Charles J / Vaidya, Sandeep S / Schwarze, Ulrike / Byers, Peter H

    Journal of vascular surgery

    2023  Volume 78, Issue 2, Page(s) 394–404

    Abstract: Objective: Vascular Ehlers-Danlos syndrome (VEDS) is rare and associated with arteriopathies. The aim of this study is to investigate the presentation, operative interventions, and outcomes of splenic arterial pathology in a population of more than 1500 ...

    Abstract Objective: Vascular Ehlers-Danlos syndrome (VEDS) is rare and associated with arteriopathies. The aim of this study is to investigate the presentation, operative interventions, and outcomes of splenic arterial pathology in a population of more than 1500 individuals with genetically confirmed VEDS due to pathogenic COL3A1 variants.
    Methods: Cross-sectional analysis of 1547 individuals was performed. The data were assembled by harmonizing data from three overlapping cohorts with genetically confirmed VEDS: the VEDS Collaborative Natural History Study (N = 242), a single-center cohort (N = 75), and the University of Washington Collagen Diagnostic Lab cohort (N = 1231). Duplicates were identified and removed. Patients were selected for analysis if they had splenic artery aneurysm (SAA), pseudoaneurysm, dissection, thrombosis, or rupture. Demographics, COL3A1 variants, interventions, and outcomes were analyzed. Comparisons by splenic artery rupture were made.
    Results: A total of 88 patients presented between 1992 and 2021 with splenic artery pathology (5.7% of the cohort; mean age at diagnosis, 37 ± 11.1 years; 50% male). One-third were diagnosed with VEDS prior to the splenic artery pathology diagnosis, and 17% were diagnosed post-mortem. Most had a positive family history (61%). Most had COL3A1 variants associated with minimal normal collagen production (71.6%). Median follow up was 8.5 years (interquartile range, 0.9-14.7 years). Initial presentation was rupture in 47% of the cases. Splenic artery rupture overall was 51% (n = 45), including four cases of splenic rupture. There were no major differences in VEDS-related manifestations or COL3A1 variant type by rupture status. SAA was noted in 39% of the cases. Only 12 patients had splenic artery diameter documented in 12 cases with a median diameter of 12 mm (interquartile range, 10.3-19.3 mm). A total of 34 patients (38.6%) underwent 40 splenic arterial interventions: 21 open surgical, 18 embolization, and one unknown procedure. More than one splenic artery intervention was performed in five cases (14.7%). Open repair complications included arteriovenous fistula (n = 1), intestinal or pancreatic injury (n = 1 each), and four intraoperative deaths. There were no deaths or access site complications related to splenic artery embolization. Four patients (23.5%) developed a new SAA in the remaining splenic artery post embolization. All-cause mortality was 35% (n = 31), including 22 related to a ruptured splenic artery.
    Conclusions: Splenic arteriopathy in VEDS is associated with variants that affect the structure and secretion of type III collagen and frequently present with rupture. Rupture and open repair are associated with high morbidity and mortality, whereas embolization is associated with favorable outcomes. Suggest repair considerations at SAA diameter of 15 mm. Long-term follow-up is indicated as secondary splenic arteriopathy can occur.
    MeSH term(s) Humans ; Male ; Adult ; Middle Aged ; Female ; Ehlers-Danlos Syndrome, Type IV ; Splenic Artery/diagnostic imaging ; Splenic Artery/surgery ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Cross-Sectional Studies ; Aneurysm/complications ; Collagen Type III/genetics
    Chemical Substances Collagen Type III
    Language English
    Publishing date 2023-04-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 605700-7
    ISSN 1097-6809 ; 0741-5214
    ISSN (online) 1097-6809
    ISSN 0741-5214
    DOI 10.1016/j.jvs.2023.04.007
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  9. Article: True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene.

    Shalhub, Sherene / Hysa, Lisa / Byers, Peter H / Meissner, Mark H / Ferreira, Manuel

    Journal of vascular surgery cases and innovative techniques

    2021  Volume 7, Issue 3, Page(s) 567–571

    Abstract: We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and ... ...

    Abstract We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein bypass graft. Analysis of the intracranial artery aneurysm and affected skin demonstrated a somatic mutation in the platelet-derived growth factor receptor-β gene. Mosaicism was present in the RAA but not in the great saphenous vein. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic test results are unrevealing.
    Language English
    Publishing date 2021-02-26
    Publishing country United States
    Document type Case Reports
    ISSN 2468-4287
    ISSN 2468-4287
    DOI 10.1016/j.jvscit.2021.02.001
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  10. Article ; Online: Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision.

    Bennett, Robin L / Malleda, Neeraja R / Byers, Peter H / Steiner, Robert D / Barr, Kimberly M

    Journal of genetic counseling

    2021  Volume 30, Issue 5, Page(s) 1354–1357

    Abstract: There are no evidence-based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineous ... ...

    Abstract There are no evidence-based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineous Couples and Their Offspring," based on a review of literature published since 2002.
    MeSH term(s) Consanguinity ; Family ; Genetic Counseling ; Humans ; Mass Screening
    Language English
    Publishing date 2021-07-26
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1002/jgc4.1477
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