Identification of novel candidate disease genes from de novo exonic copy number variants

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Identification of novel candidate disease genes from de novo exonic copy number variants ; volume:9 ; number:1 ; day:21 ; month:9 ; year:2017 ; pages:1-15 ; date:12.2017
Genome medicine ; 9, Heft 1 (21.9.2017), 1-15, 12.2017

Creator: Gambin, Tomasz

Contributor: Yuan, Bo
Bi, Weimin
Liu, Pengfei
Rosenfeld, Jill A.
Coban-Akdemir, Zeynep
Pursley, Amber N.
Nagamani, Sandesh C. S.
Marom, Ronit
Golla, Sailaja
Dengle, Lauren
Petrie, Heather G.
Matalon, Reuben
Emrick, Lisa
Proud, Monica B.
Treadwell-Deering, Diane
Chao, Hsiao-Tuan
Koillinen, Hannele
Brown, Chester
Urraca, Nora
Mostafavi, Roya
Bernes, Saunder
Roeder, Elizabeth R.
Nugent, Kimberly M.
Bader, Patricia I.
Bellus, Gary
Cummings, Michael
Northrup, Hope
Ashfaq, Myla
Westman, Rachel
Wildin, Robert
Beck, Anita E.
Immken, LaDonna
Elton, Lindsay
Varghese, Shaun
Buchanan, Edward
Faivre, Laurence
Lefebvre, Mathilde
Schaaf, Christian P.
Walkiewicz, Magdalena
Yang, Yaping
Kang, Sung-Hae L.
Lalani, Seema R.
Bacino, Carlos A.
Beaudet, Arthur L.
Breman, Amy M.
Smith, Janice L.
Cheung, Sau Wai
Lupski, James R.
Patel, Ankita
Shaw, Chad A.
Stankiewicz, Paweł
SpringerLink (Online service)

DOI: 10.1186/s13073-017-0472-7

URN: urn:nbn:de:1111-201711198569

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:30 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Gambin, Tomasz
Yuan, Bo
Bi, Weimin
Liu, Pengfei
Rosenfeld, Jill A.
Coban-Akdemir, Zeynep
Pursley, Amber N.
Nagamani, Sandesh C. S.
Marom, Ronit
Golla, Sailaja
Dengle, Lauren
Petrie, Heather G.
Matalon, Reuben
Emrick, Lisa
Proud, Monica B.
Treadwell-Deering, Diane
Chao, Hsiao-Tuan
Koillinen, Hannele
Brown, Chester
Urraca, Nora
Mostafavi, Roya
Bernes, Saunder
Roeder, Elizabeth R.
Nugent, Kimberly M.
Bader, Patricia I.
Bellus, Gary
Cummings, Michael
Northrup, Hope
Ashfaq, Myla
Westman, Rachel
Wildin, Robert
Beck, Anita E.
Immken, LaDonna
Elton, Lindsay
Varghese, Shaun
Buchanan, Edward
Faivre, Laurence
Lefebvre, Mathilde
Schaaf, Christian P.
Walkiewicz, Magdalena
Yang, Yaping
Kang, Sung-Hae L.
Lalani, Seema R.
Bacino, Carlos A.
Beaudet, Arthur L.
Breman, Amy M.
Smith, Janice L.
Cheung, Sau Wai
Lupski, James R.
Patel, Ankita
Shaw, Chad A.
Stankiewicz, Paweł
SpringerLink (Online service)

Other Objects (12)

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Arbeitspapier

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Arbeitspapier

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Arbeitspapier

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Identification of novel candidate disease genes from de novo exonic copy number variants

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments

Estimating private provision of public goods with heterogenous participants: A structural analysis

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States

Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the forests of the Western United States

Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts

Exploiting locational and topological overlap model to identify modules in protein interaction networks

Improving prediction of phenotypic drug response on cancer cell lines using deep convolutional network

Unconventional spin textures emerging from a universal symmetry theory of spin-momentum locking

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Transient space localization of electrons ejected from continuum atomic processes in hot dense plasma

Absolute surface metrology by shear rotation with position error correction

Related objects

Reset password