3 research outputs found
Environmentally-assisted Fatigue Crack Growth in AA7050-T73511 Al Alloy and AA2050-T84 Al-Cu-Li Alloy
- Author
- Albelkis PR
- Alrubaie K
- Carla Isabel Santos Maciel
- Cassius OlĂvio Figueiredo Terra Ruchert
- Conde A
- Devereux OF
- Dowling NE
- Fernando AntĂ´nio Paschoal JĂşnior
- Ford FP
- Hollingsworth EH
- José Francisco Leonelli Júnior
- JĂ©ferson Aparecido Moreto
- Komai K
- Lin C-K
- Luis Henrique Camargo Bonazzi
- Maciel CIS
- Menan F
- Robinson MJ
- Sanders Jr TH
- Sanders Jr TH
- Schijve J
- Suresh S
- Vasudévan AK
- Waldek Wladimir Bose Filho
- Zhang R
- Zheng XL
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
- Author
- Autism Sequencing Consortium (ASC)
- Babadi M
- Banks E
- Barbosa M
- Betancur C
- Brand H
- Broad Institute Center for Common Disease Genomics (Broad-CCDG)
- Brusco A
- Buxbaum JD
- Campos G
- Cardaropoli S
- Carli D
- Chan MCY
- Chung BHY
- Collins B
- Collins RL
- Cook EH
- Costa CIS
- Cuccaro ML
- Cusick C
- Cutler DJ
- Daly MJ
- De Rubeis S
- Devlin B
- Dodge S
- Domenici E
- Dong S
- Fallerini C
- Ferrero GB
- Fu JM
- Gabriel SB
- Gargus JJ
- Gauthier L
- Giorgio E
- Girardi AC
- Hansen-Kiss E
- Hao SP
- Herman GE
- Hertz-Picciotto I
- iPSYCH-BROAD Consortium
- Klei L
- Lee SK
- Lee SL
- Liang L
- Lintas C
- Ljungdahl A
- Ludena Y
- Maciel P
- Mahjani B
- Manoach DS
- Nguyen R
- Passos-Bueno MR
- Pavinato L
- Peng M
- Pericak-Vance M
- Persico AM
- Pessah IN
- Renieri A
- Roeder K
- Sanders SJ
- Satterstrom FK
- Schmidt RJ
- Sloofman L
- Smirnov AN
- Smith M
- Stevens CR
- Sutcliffe JS
- Talkowski ME.
- Tassone F
- Trabetti E
- Trajkova S
- Wamsley B
- Wang JYT
- Wang L
- Yu MHC
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk
Organolead Compounds
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- A Astiglioni
- A Bellomo
- A Berezniak
- A Betta
- A Blumenthal
- A Boulard de
- A Burg
- A Cahours
- A Cahours
- A Cahours
- A Cahours
- A Demidowicz
- A D’Ulivo
- A Egerton
- A Egerton
- A Egerton
- A Egerton
- A Egerton
- A Egerton
- A Egerton
- A Egerton
- A Egerton
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- A Febo
- A Ferro
- A Fookson
- A Ghira
- A Ghira
- A Girelli
- A Goldberg
- A GrĂĽnwald
- A GrĂĽnwald
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- A Hager
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- A Morelli
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- T Fellenberg von
- T Fernandez
- T Hammerich
- T Hammerich
- T Hammerich
- T Huff
- T Ishii
- T Katou
- T Leipert
- T Li
- T Li
- T Matsui
- T Midgley
- T Midgley
- T Midgley Jr
- T Mori
- T Myvanishi
- T Niculescu
- T Nielsen
- T Nielsen
- T Nielsen
- T Nielsen
- T Nishishita
- T Okada
- T Schroeder
- T Schroeder
- T SmI
- T Tsuruta
- T Wartik
- T Wilkowa
- T-M Li
- T.H. Pearson
- TA Boyd
- TA Boyd
- TAK Al-Allaf
- TAK Al-Allaf
- TCS Ruo
- TG Pearson
- TG Pearson
- TG Pearson
- TG Pearson
- TH Coffield
- THM Manasev
- TJ Chow
- TJ Chow
- TK Hanson
- TL Cottrell
- TL Shkorbatova
- TL Shkorbatova
- TM Sugden
- TM Vickrey
- TM Vickrey
- TO Aulfield
- TP Kashcheeva
- TP Kashcheeva
- TP Korolenko
- TR Robinson
- TR Robinson
- TR Robinson
- TV Krishnan
- TV Krishnan
- U Ambanelli
- U Backes
- U Backes
- U Belluco
- U Belluco
- U Belluco
- U Belluco
- U Belluco
- U Kunze
- U Lippi
- U Prösch
- U Prösch
- V Arunachalam
- V Bade
- V Berenguer
- V Cantuti
- V Cantuti
- V Cosic
- V Emel’yanov
- V Emel’yanov
- V Foá
- V Gavrilov
- V Gavrilov
- V Genta
- V Genta
- V Genta
- V Giuliani
- V Giuliani
- V Giuliani
- V Giuliani
- V Hiev
- V Hiev
- V Hlavacek
- V Hlavacek
- V Kabaivanov
- V Kabaivanov
- V Kuppu Rao
- V Prever
- V Scarinci
- V Scarinci
- V Veljkovic
- V Vesely
- VA Green
- VA Khrustaleva
- VA Khrustaleva
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Shushunov
- VA Smith
- VC Demel Jr.
- VD Efimova
- VE Emel’yanov
- VF Mironov
- VF Mironov
- VF Mironov
- VF Traven
- VG Gurevich
- VG Kuleshov
- VG Kuleshov
- VG Kuleshov
- VG Tsvetkov
- VH Dibeler
- VH Dibeler
- VH Dibeler
- VI Faerman
- VI Tel’noi
- VI Tel’noi
- VI Tel’noi
- VI Tel’noi
- VI Tel’noi
- VK Khairullin
- VK Khairullin
- VK Khanina
- VN Ipatieff
- VN Ipatieff
- VN Ipatieff
- VN Ipatieff
- VN Ipat’ev
- VP Finelonov
- VP Muzychenko
- VS Azev
- VS Azev
- VS Azev
- VS Azev
- VS Azev
- VS Trievskii
- VV Bushin
- VV Bushin
- VV Bushin
- VV Bushin
- VV Bushin
- VV Korshak
- VV Korshak
- VV Korshak
- VV Korshak
- VV Ovchinnikov
- W Bai
- W Bai
- W Bai
- W Biltz
- W Bolanowska
- W Bolanowska
- W Bolanowska
- W Bolanowska
- W Bolanowska
- W Bolanowska
- W Bolanowska
- W Chlupacek
- W Cornelius
- W Dabeistein
- W Dahlig
- W Dulinski
- W Enning
- W Glatte
- W Grimme
- W Haubold
- W Haubold
- W Herz
- W Hubis
- W Jonghe De
- W Jost
- W Kabaivanov
- W Katz
- W Kern
- W Langenbeck
- W Laves
- W Linne
- W Machle
- W Meine
- W Mielenz
- W Niklowitz
- W Schlenk
- W Strohmeier
- W Strohmeier
- W Strohmeier
- W Ulrich
- W Wirth
- WA Aue
- WA Aue
- WA Aue
- WA Brown
- WA Brown
- WA Nugent
- WA Nugent
- WA Partridge
- WA Schulze
- WB Engelbrecht
- WD Good
- WD Good
- WD Good
- WD Good
- WD Good
- WD Harkins
- WD Harkins
- WE Becker
- WE Catlin
- WE Morris
- WE Morris
- WE Vaughan
- WF Anzilotti
- WF Lautsch
- WF Lautsch
- WF Lautsch
- WF Lautsch
- WF Lautsch
- WF Lautsch
- WF Machle
- WF Schmidt
- WF Schoen
- WG Agnew
- WH Charch
- WH Howell
- WH Hubner
- WH Thomas
- WH Thomas
- WH Thomas
- WH Zartman
- WI Throw
- WI Throw
- WI Zang
- WIL Throw
- WJ Mitchell
- WJ Niklowitz
- WJ Niklowitz
- WJ Niklowitz
- WJ Pitz
- WJ Settineri
- WL Richardson
- WL Richardson
- WL Richardson
- WL Richardson
- WL Richardson
- WL Richardson
- WL Richardson
- WN Ipatiew
- WN Ipatiew
- WN Ipatiew
- WR Law
- WR Ormandy
- WR Wade
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRA Jonghe De
- WRF Notten
- WS Levine
- WT Lyn
- WT Sturges
- WV Steele
- WW Parker
- WW Parker
- WW Parker
- WW Woessner
- X Liebl
- X Xiaoding
- X Xiaoding
- X Xiaoding
- Y Aleksandrov
- Y Kaneko
- Y Marumo
- Y Mayor
- Y Miah
- Y Miah
- Y Mizoi
- Y Sayato
- Y Shao
- Y Ta
- Y Ta
- Y Ta
- Y Tanaka
- Y Tanaka
- Y Tanaka
- Y Tanaka
- Y Tanaka
- Y Tanaka
- Y Tanaka
- Y Vasilenko
- Y Wakuri
- Y Yamamoto
- Y Yamamura
- Y Yamamura
- Y Yamamura
- Y Yonekawa
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Aleksandrov
- YA Alexandrov
- YA Alexandrov
- YD Semchikov
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YK Chau
- YM Zinov’ev
- YM Zinov’ev
- YS Drugov
- YV Zhigailo
- Z Aneva
- Z Drabent
- Z Drabent
- Z Drabent
- Z Florjanczyk
- Z Forycki
- Z Karny
- Z Kowalski
- Z Kozarzewska
- Z Turlakiewicz
- Z Turlakiewicz
- Z Turlakiewicz
- Z Turlakiewicz
- Z Turlakiewicz
- ZK Lynkina
- ZM Manulkin
- ZM Manulkin
- ZM Manulkin
- ZM Manulkin
- ZV Veksler
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1989
- Field of study