4 research outputs found
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH
- Author
- Publication venue
- 'European Respiratory Society (ERS)'
- Publication date
- 07/10/2022
- Field of study
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered
The Human Phenotype Ontology in 2024: phenotypes around the world
- Author
- Addo-Lartey EB
- Anagnostopoulos AV
- Anderton J
- Avillach P
- Bagley AM
- Bakstein E
- Balhoff JP
- Baynam G
- Bello SM
- Berk M
- Bertram H
- Bishop S
- Blau H
- Bodenstein DF
- Botas P
- Boztug K
- Cady J
- Cajbikova NN
- Callahan TJ
- Cameron R
- Carbon SJ
- Carmody LC
- Castellanos F
- Caufield JH
- Chan LE
- Chute CG
- Coleman B
- Cruz-Rojo J
- Dahan-Oliel N
- Danis D
- Davids JR
- de Dieuleveult M
- de Souza V
- de Vries BBA
- de Vries E
- DePaulo JR
- Derfalvi B
- Dhombres F
- Diaz-Byrd C
- Dingemans AJM
- Donadille B
- Duyzend M
- Elfeky R
- Essaid S
- Fabrizzi C
- Fico G
- Firth HV
- Freudenberg-Hua Y
- Fullerton JM
- Gabriel DL
- Gargano MA
- Gilmour K
- Giordano J
- Goes FS
- Green I
- Griese M
- Groza T
- Gu W
- Guthrie J
- Gyori B
- Haendel MA
- Hamosh A
- Hanauer M
- Hanusova K
- Harris NL
- He YO
- Hegde H
- Helbig I
- Holasova K
- Hoyt CT
- Huang S
- Hurwitz E
- Jacobsen JOB
- Jiang X
- Joseph L
- Keramatian K
- King B
- Knoflach K
- Kohler S
- Koolen DA
- Kraus ML
- Kroll C
- Kusters M
- Ladewig MS
- Lagorce D
- Lai M-C
- Lapunzina P
- Laraway B
- Lewis-Smith D
- Li X
- Lucano C
- Majd M
- Marazita ML
- Martinez-Glez V
- Matentzoglu N
- McHenry TH
- McInnis MG
- McMurry JA
- Mihulova M
- Millett CE
- Mitchell PB
- Moses RG
- Moslerova V
- Mungall CJ
- Munoz-Torres MC
- Narutomi K
- Nematollahi S
- Nevado J
- Nierenberg AA
- Nurnberger JI
- Ogishima S
- Olson D
- Ortiz A
- Pachajoa H
- Perez de Nanclares G
- Peters A
- Putman T
- Rapp CK
- Rath A
- Reese J
- Rekerle L
- Roberts AM
- Robinson PN
- Roy S
- Sanders SJ
- Schuetz C
- Schulte EC
- Schulze TG
- Schwarz M
- Scott K
- Seelow D
- Seitz B
- Shen Y
- Similuk MN
- Simon ES
- Singh B
- Smedley D
- Smith CL
- Smolinsky JT
- Sperry S
- Stafford E
- Stefancsik R
- Steinhaus R
- Strawbridge R
- Sundaramurthi JC
- Talapova P
- Tenorio Castano JA
- Tesner P
- Thomas RH
- Thurm A
- Toro S
- Turnovec M
- van Gijn ME
- Vasilevsky NA
- Vlckova M
- Walden A
- Wang K
- Wapner R
- Ware JS
- Wiafe AA
- Wiafe SA
- Wiggins LD
- Williams AE
- Wu C
- Wyrwoll MJ
- Xiong H
- Yalin N
- Yamamoto Y
- Yatham LN
- Yocum AK
- Young AH
- Yuksel Z
- Zandi PP
- Zankl A
- Zarante I
- Zvolsky M
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 05/01/2024
- Field of study
\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs
The versatile, changing, and advancing roles of fish in sediment toxicity assessment—a review
- Author
- A Castano
- A Castano
- A Husøy
- A Kinder
- A Krasnov
- A Netzband
- A Oberemm
- A-K Eriksson-Wiklund
- AP Roberts
- Arnold V. Hallare
- AV Hallare
- AV Hallare
- AV Hallare
- AV Hallare
- AV Hallare
- B Inzunza
- B Zhou
- BB McCain
- BL French
- C Hinkle-Conn
- C Kimmel
- C Schulte
- C Wedekind
- CC Travis
- CD Metcalfe
- CEW Steinberg
- CG Ingersoll
- CJ Dawe
- CP Guy
- D Bucke
- D Schlenk
- D Völker
- DA Dawson
- DA Powers
- DJ Chappie
- DL Fabacher
- DW Klumpp
- E Küster
- E Lammer
- EA Power
- EJ Perkins
- EM Foekema
- F Ali
- F Gagne
- F Gagne
- F Gagné
- G Dave
- GA Burton Jr
- GA Burton Jr
- GA LeBlanc
- GC Barbee
- GIV Klobucar
- GT Ankley
- GT Ankley
- GT Ankley
- H Hollert
- H Hollert
- H Hollert
- H Hollert
- H Rosenthal
- H Segner
- H Segner
- H Sundberg
- H Westernhagen von
- Henner Hollert
- HM Sleiderink
- HT Besselink
- HW Laale
- I Cunha
- I Louiz
- J Beyer
- J Cachot
- J Karlsson
- J Wolz
- J Wölz
- J Wölz
- JA Mondon
- JB Sprague
- JF Skidmore
- JJ Black
- JJ Delfino
- JP Giesy
- JS Almeida
- JW Park
- K Fent
- K Hilscherova
- K Schirmer
- KE Tollefsen
- KK Lie
- KM Miller
- KR Solomon
- L Bat
- L Quiros
- L Traven
- L Vigano
- L Vigano
- LM DiPinto
- LX Yang
- M Davoren
- M Hecker
- M Kilemade
- M Lange
- M Nendza
- M Strmac
- M Strmac
- M Teles
- M Weil
- MA Hayes
- MF Kilemade
- MH Roberts
- MJ Leaver
- MJ Mac
- MK Schubauer-Berigan
- ML Haasch
- ML Landolt
- N Fragoso
- N Jimenez-Tenorio
- N Seitz
- NC Bols
- ND Denslow
- NE Kemble
- NM Belfiore
- O Zapata-Perez
- P Beelen Van
- P Kristensen
- P Larkin
- P Michallet-Ferrier
- PC Francis
- PD Hansen
- PM Chapman
- PM Chapman
- PM Chapman
- PM Costa
- PS Rocha
- PTE Ozoh
- PW Rodgers
- R Barra
- R Baudo
- R Menzel
- R Nagel
- R Oost Van der
- RA Hoke
- RA Sonstegard
- RM Burgess
- RM Kocan
- RT Giulio Di
- S DeFlora
- S George
- S Hoess
- S Keiter
- S Keiter
- S Keiter
- S Kinani
- S Magwood
- S Ni Shuilleabhain
- S Scholz
- SE Huuskonen
- SE Huuskonen
- SM Baksi
- T Braunbeck
- T Braunbeck
- T Braunbeck
- T Friccius
- T Kosmehl
- T Kosmehl
- T Kosmehl
- T Lettieri
- T Luckenbach
- T Luckenbach
- TA DelValls
- TB Seiler
- TD Williams
- Thomas-Benjamin Seiler
- TW Snell
- U Ensenbach
- U Ensenbach
- U Feiler
- U Förstner
- U Förstner
- U Kammann
- U Kammann
- U Kammann
- U Kammann
- U Kammann
- U Kammann
- USEPA U.S Environmental Protection Agency
- W Brack
- W Brack
- W Liss
- WA Hopkins
- WJ Hargis
- WK Savage
- WST Champ
- YH Cheung
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A second update on mapping the human genetic architecture of COVID-19
- Author
- Abd Elghafar MS
- Abdel-Aziz M
- Abdelrazik M
- Abdullah MS
- Abe R
- Abe S
- Abel L
- Abel L
- Abernathy C
- Abraham R
- Abraheem A
- Abu Alragheb BO
- Abulail JA
- Acklery A
- Acosta-Herrera M
- Adachi T
- Adachi Y
- Adam R
- Adams C
- Adams K
- Adams N
- Adanini O
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agravante K
- Agrawal A
- Agrawal S
- Aguado JM
- Aguilar C
- Aguilar SEV
- Aguilar-Salinas CA
- Aguilera-Albesa S
- Agüero D
- Ahmad HF
- Ahmad N
- Ahmadhaider N
- Ahmed A
- Ahmed C
- Ahram M
- Ai M
- Ain Q
- Aitkin E
- Akeroyd L
- Akhtar MN
- Akinkugbe O
- Al-Ani A
- Al-Ja’afreh MM
- Al-Kadash A
- Al-Kasasbeh MM
- Al-Moasseb H
- Al-Muftah W
- Al-Sarraj Y
- Alamer LM
- Alasdair F
- Alawneh FM
- Alawneh LM
- Albaiceta GM
- Albano G
- Albillos A
- Albrecht W
- Aldridge J
- Alexander P
- Alfonso J
- Alhousani TN
- Ali A
- Ali HH
- Ali IAM
- Ali S
- Aliberti S
- ALjalamdeh M
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
- Allen M
- Allen S
- Allen U
- Allibone S
- Allison KS
- Allouzy SK
- Ally SM
- Almadana V
- Almaden-Boyle C
- Almoguera B
- Alpuche-Aranda C
- AlRawashdeh TJ
- Alsafadi DB
- Alshaer W
- Alsoub FS
- Altabaibeh A
- Alvarez N
- Alvaro A
- Alzuraiqi MR
- Amamio M
- Aman NF
- Amin V
- Amiya S
- Ampuero J
- Anan R
- Anastasescu E
- Andersen S
- Anderson J
- Anderson M
- Anderson P
- Anderson S
- Anderson S
- Anderson T
- Ando A
- Andrade V
- Andreou P
- Andreu-Bernabeu Á
- Andrew A
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- Andrew G
- Andrews J
- Andrews S
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- Angelini C
- Ansari AI
- Antcliffe D
- Antoine P
- Antony S
- Anumakonda V
- Anwer M
- Anzai T
- Apetri E
- Aquino M
- Aquino-Gálvez A
- Arai D
- Arakelyan A
- Arana-Arri E
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- Arango C
- Aravindan L
- Arbane G
- Archer K
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- Arranz MJ
- Arranz MJ
- Arribas-Rodriguez E
- Artiga M-J
- Arumugam P
- Asakura T
- Asano K
- Aschard H
- Ashby K
- Ashok SR
- Ashraf S
- Ashton L
- Asimakopoulos A
- Aslibekyan S
- Asselta R
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- Atayeva N
- Athanasiou L
- Atkinson EG
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- Auld D
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- Awasthi S
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- Badal B
- Badalamenti S
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- Bakthavatsalam D
- Balaconis MK
- Baldini M
- Balla D
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- Bamford A
- Bamford P
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- Bancroft H
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- Tomlinson J
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- Tonby K
- Tonks L
- Toohie J
- Torky MS
- Torrents D
- Torres-Espíndola LM
- Torres-Tobar L
- Toxqui-Merchant LE
- Tran F
- Trankiem A
- Tranter H
- Travers J
- Tregouet D-A
- Trembath RC
- Tremblay K
- Treus E
- Tridente A
- Trim F
- Trivedi B
- Trodd D
- Trotman S
- Trott S
- Trower H
- Truman N
- Trumper E
- Tse SM
- Tsechoeva T
- Tselios C
- Tsilidis K
- Tsinaslanidis G
- Tsourlos S
- Tsuchida T
- Tsuo K
- Tubiana S
- Tucci A
- Tucker P
- Tuckey V
- Tuleutayev M
- Tully R
- Turebayeva G
- Turki S
- Turley C
- Turley P
- Turnbull A
- Turner L
- Turner P
- Turner V
- Turner-Bone I
- Turney S
- Turtle L
- Turvey SE
- Tusié-Luna T
- Tutt G
- Tutton R
- Twiss S
- Tyl D
- Tyler A
- Tzoulaki I
- Téllez L
- Uchimura Y
- Ueda S
- Ueda T
- Uellendahl-Werth F
- Uitterlinden AG
- Ullum H
- Umeda A
- Upadhyay KJ
- Upton J
- Urioste M
- Urrechaga E
- Usher M
- Utsugi M
- Uwamino Y
- Vadgama N
- Vadla MS
- Vaida M
- Valdeavella K
- Valdés PA
- Valencia-Ramos J
- Valenti L
- Valenzuela-Jorquera H
- Vallerga CL
- Valsecchi MG
- Van den Berge M
- Van der Laan S
- Van Heel DA
- Van Heel DA
- Van Koutrick L
- Vandernoot I
- Varghese M
- Vasilevska-Ristovska J
- Vassell K
- Vedage D
- Veerapen K
- Vega J
- Vehreschild MJGT
- Velasco DG
- Velázquez-Cruz R
- Venkatesh H
- Verdugo RA
- Verdugo RA
- Vergasova E
- Verlander M
- Vertue M
- Verula J
- Vigueras-Hernández A
- Vigurs C
- Villa A
- Villalonga JM
- Vincent R
- Virgilio E
- Virginia M-RA
- Vitart V
- Vizcaychipi M
- Vlasschaert C
- Vochin A
- Volland S
- Von Hohenstaufen Puoti KA
- Voza A
- Vuylsteke A
- Várnai R
- Vázquez-Pérez JA
- Wacker EM
- Wackett T
- Wadams B
- Waddell G
- Waddington N
- Wagner R
- Wagstaff V
- Waite AAC
- Wakabayashi A
- Wakahara K
- Wakefield P
- Wakinshaw F
- Waldron J
- Walker C
- Walker D
- Walker L
- Walker R
- Walker S
- Walker S
- Wall A
- Walsh T
- Walter J
- Walters RK
- Walton O
- Wang B
- Wang QS
- Wang X
- Wang X
- Ward D
- Ward G
- Ward K
- Ward L
- Ward M
- Ward S
- Warden S
- Warren D
- Warrington J
- Washington NL
- Wassall H
- Wasson C
- Watanabe H
- Watanabe K
- Waters A
- Waters E
- Watkins C
- Watson E
- Watson G
- Watson J
- Watters M
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- Webster K
- Wei S
- Wei Z
- Weiss ST
- Weldon CH
- Welford A
- Wells C
- Welters I
- Wendorff M
- Wendtner CM
- Werge T
- Wesse T
- West J
- Westergaard D
- Weston H
- Whileman A
- Whitaker E
- Whitbread J
- White D
- White I
- White K
- White M
- White N
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- White S
- Whitehead V
- Whitelaw L
- Whiteley S
- Whiteside J
- Whitney J
- Whitton C
- Whyte C
- Wicks SJ
- Wiegrebe S
- Wienbrandt L
- Wignall A
- Wilby L
- Wilcox L
- Wild H
- Wild L
- Wilding L
- Wiles M
- Wilfling S
- Wiliams A
- Wilkin F
- Wilkins J
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- Wilkinson B
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- Williams C
- Williams D
- Williams E
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- Wilson JF
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- Winchester J
- Winkler TW
- Winmill H
- Winnard S
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- Winter K
- Winter-Goodwin B
- Wittig M
- Witzke O
- Wolf-Roberts R
- Wolford BN
- Wong I
- Wong J
- Wong J
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- Woodruff M
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- Woodward E
- Woodward J
- Woolcock M
- Woolley AE
- Worner R
- Worsley L
- Wray G
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- Wright C
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- Wright J
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- Wright S
- Wrobel N
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- Wulandari R
- Wylie K
- Wyllie DH
- Wynter I
- Xavier K
- Xue X
- Yagi K
- Yamada M
- Yamada Y
- Yamagata K
- Yamasaki M
- Yang J
- Yaspan B
- Yassen AM
- Yasui Y
- Yates B
- Yatomi M
- Ye C
- Yermakovich D
- Yeung RSM
- Yi X
- Yonekawa A
- Yoo S
- Yoon K
- Yoshida K
- Yoshida S
- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Young M
- Yue F
- Yun N
- Yáñez CE
- Yáñez Z
- Zainulabid UA
- Zainy T
- Zak A
- Zaki A
- Zamikula J
- Zamudio IPM
- Zanella A
- Zapata-Contreras D
- Zapatamartinez M
- Zarate R
- Zarei N
- Zavaleta DAF
- Zawadzki P
- Zawati MH
- Zborowski AC
- Zeberg H
- Zechner M
- Zhang Q
- Zhao X
- Zheng C
- Zheng T
- Zhlawi HJ
- Zhlawi MWJ
- Zholdybayeva E
- Zhou W
- Zhu W
- Zitter L
- Zoller H
- Zongo O
- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
- Zúñiga-Ramos J
- Álvarez BG
- Ávila-Arcos MA
- Ávila-Arcos MC
- Özer O
- Überla K
- Þorsteinsdóttir U
- Publication venue
- Nature Research
- Publication date
- 21/06/2023
- Field of study