Ecosyste.ms: Papers

An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.

Projects: pypi: Sift

https://packages.ecosyste.ms/registries/pypi.org/packages/Sift

Python bindings for Sift Science's API
32 versions
Latest release: about 1 year ago
71,185 downloads last month

Papers Mentioning Sift 114

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
Cited by: 1
Author(s): Marzieh Mohseni, Mohammad Razzaghmanesh, Elham Parsi Mehr, Hanieh Zare, Maryam Beheshtian, Hossein Najmabadi
Software Mentions: 1
Published: about 8 years ago

10.1186/s13058-018-1007-x

Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer
Cited by: 50
Author(s): Liang Xu, Sophie Vacher, Anaïs Boulai, Virginie Bernard, Sylvain Baulande, Mylène Bohec, Ivan Bièche, Florence Lerebours, Céline Callens
Software Mentions: 1
Published: over 6 years ago

10.1186/s13058-018-1011-1

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Cited by: 9
Author(s): Judith Penkert, Gunnar Schmidt, Winfried Hofmann, Stephanie Schubert, Maximilian Schieck, Bernd Auber, Tim Ripperger, Karl Hackmann, Marc Sturm, Holger Prokisch, Ursula Hille-Betz, D Aupperlee Mark, Thomas Illig, Brigitte Schlegelberger, Doris Steinemann
Software Mentions: 1
Published: over 6 years ago

10.1155/2015/219691

Identification of Novel Mutations inSpatacsinandApolipoprotein BGenes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Cited by: 1
Author(s): Leema Reddy Peddareddygari, Raji P. Grewal
Software Mentions: 1
Published: almost 10 years ago

10.1155/2020/2795656

ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial
Cited by: 5
Author(s): Simona Bernardi, Mirko Farina, Camilla Zanaglio, Federica Cattina, Nicola Polverelli, Francesca Schieppati, Federica Re, Chiara Foroni, Michele Malagola, Andrew Dunbar, Domenico Russo
Software Mentions: 1
Published: almost 5 years ago

10.1002/mgg3.1461

A novel GABRB3 variant in Dravet syndrome: Case report and literature review
Cited by: 7
Author(s): Piero Pavone, Xena Giada Pappalardo, Simona Domenica Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla
Software Mentions: 1
Published: about 4 years ago

10.1002/mgg3.501

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
Cited by: 26
Author(s): Sureni V Mullegama, Stephen P. Klein, Rebecca Signer, Éric Vilain, Julian A. Martinez‐Agosto
Software Mentions: 1
Published: about 6 years ago

10.1002/mgg3.149

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening ofCFTR
Cited by: 18
Author(s): Daniel Trujillano, Maximilian E. R. Weiss, Julia Köster, Efstathios B. Papachristos, Martin Werber, Krishna Kumar Kandaswamy, Anett Marais, Sabrina Eichler, Jenny Creed, E. Baysal, Iqbal Yousuf Jaber, Dina A. Mehaney, Chantal Farra, Arndt Rolfs
Software Mentions: 1
Published: over 9 years ago

10.1186/s13052-017-0371-y

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
Cited by: 6
Author(s): Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
Software Mentions: 1
Published: over 7 years ago

10.1186/s13024-021-00431-w

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
Cited by: 12
Author(s): Majida Charif, Yvette C. Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaïd, Vincent Procaccio, Dominique Bonneau, Patrizia Amati‐Bonneau, Pascal Reynier, Dimitri Krainc, Guy Lenaers
Software Mentions: 1
Published: over 3 years ago

10.1002/1878-0261.12621

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non‐inflammatory breast cancers
Cited by: 19
Author(s): François Bertucci, Charlotte Rypens, Pascal Finetti, Arnaud Guillé, José Adélaı̈de, Audrey Monneur, Nadine Carbuccia, Séverine Garnier, Piet Dirix, Anthony Gonçalvès, Peter Vermeulen, Bisrat G. Debeb, Xiaoping Wang, Luc Dirix, Naoto T. Ueno, Patrice Viens, Massimo Cristofanilli, Max Chaffanet, Daniel Birnbaum, Steven Van Laere
Software Mentions: 1
Published: almost 5 years ago

10.1038/s41380-018-0282-3

Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide
Cited by: 35
Author(s): Hilary Coon, Todd M. Darlington, Emily DiBlasi, W. Brandon Callor, Elliott Ferris, Alison Fraser, Zhe Yu, Nancy William, Sujan C. Das, Sheila E. Crowell, Danli Chen, J. Anderson, Michael Klein, Leslie Jerominski, Dale S. Cannon, Andrey A. Shabalin, Anna R. Docherty, Megan E. Williams, Ken R. Smith, Brooks Keeshin, Amanda V. Bakian, Erik Damgaard Christensen, Qingqin Li, Nicola J. Camp, Douglas Gray
Software Mentions: 1
Published: about 6 years ago

10.1186/s12969-019-0349-y

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Cited by: 28
Author(s): Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode‐Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante
Software Mentions: 1
Published: over 5 years ago