pypi: Sift | Projects | Ecosyste.ms: Papers

10.7554/eLife.31035

Phenotype inference in an Escherichia coli strain panel
Cited by: 36
Author(s): Marco Galardini, Alexandra Koumoutsi, Lucía Herrera-Domínguez, Juan Antonio Cordero Varela, Anja Telzerow, Omar Wagih, Morgane Wartel, Olivier Clermont, Erick Denamur, Athanasios Typas, Pedro Beltrão
Software Mentions: 8
Published: almost 7 years ago

10.1371/journal.pntd.0005992

Candidate genes-based investigation of susceptibility to Human African Trypanosomiasis in Côte d’Ivoire
Cited by: 12
Author(s): Bernardin Ahouty, Mathurin Koffi, Hamidou Ilboudo, Gustave Simo, Enock Matovu, Julius Mulindwa, Christiane Hertz‐Fowler, Bruno Bucheton, Issa Sidibé, Vincent Jamonneau, Annette MacLeod, Harry Noyes, Simon-Pierre A. Nguetta
Software Mentions: 5
Published: about 7 years ago

10.1371/journal.pgen.1009477

Drivers of linkage disequilibrium across a species’ geographic range
Cited by: 10
Author(s): Kay Lucek, Yvonne Willi
Software Mentions: 4
Published: over 3 years ago

10.3389/fnins.2019.01324

A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases
Cited by: 4
Author(s): Allen Chi Shing Yu, Aldrin Kay-Yuen Yim, Anna Chan, Liz Y P Yuen, Wing Chi Au, Timothy Cheng, Xiao Lin, Jing‐Woei Li, Larry Wl Chan, Vincent Chung Tong Mok, Ting-Fung Chan, Ho Yin Chan
Software Mentions: 3
Published: almost 5 years ago

10.3389/fcimb.2021.605589

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB
Cited by: 9
Author(s): Xiaojuan Ding, Han Huang, Lili Zhao, Min Chen, Fang Peng, Bing Zhang, Xinyu Cui, Xiu‐An Yang
Software Mentions: 3
Published: over 3 years ago

10.1371/journal.pone.0219452

Prediction of disease-associated mutations in the transmembrane regions of proteins with known 3D structure
Cited by: 17
Author(s): Petr Popov, Ilya V. Bizin, M. Michael Gromiha, A. Kulandaisamy, Dmitrij Frishman
Software Mentions: 3
Published: over 5 years ago

10.1186/s13023-021-01740-5

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat
Cited by: 9
Author(s): Kathryn M. Meurs, Brian Williams, Dylan J DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou
Software Mentions: 3
Published: over 3 years ago

10.1186/1471-2164-14-S1-S5

Genomic differences between cultivated soybean, G. max and its wild relative G. soja
Cited by: 31
Author(s): Trupti Joshi, Babu Valliyodan, J. G. Wu, Suk-Ha Lee, Dong Xu, Henry T. Nguyen
Software Mentions: 3
Published: almost 12 years ago

10.1038/s41598-018-33396-w

The genetic landscape of 5T models for multiple myeloma
Cited by: 13
Author(s): Ken Maes, Bram Boeckx, Philip Vlummens, Kim De Veirman, Eline Menu, Karin Vanderkerken, Diether Lambrechts, Elke De Bruyne
Software Mentions: 3
Published: about 6 years ago

10.1016/j.ajhg.2021.02.015

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Cited by: 11
Author(s): Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-González, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-López, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid Mahmood Baig, Joakim Klar, Niklas Dahl
Software Mentions: 2
Published: over 3 years ago

10.1186/s12885-021-07857-x

ETV4 plays a role on the primary events during the adenoma-adenocarcinoma progression in colorectal cancer
Cited by: 8
Author(s): Aline Simoneti Fonseca, Anelisa Ramão, Matheus Carvalho Bürger, Jorge Estefano Santana de Souza, Dalila Lucíola Zanette, Greice Andreotti de Molfetta, Luíza Ferreira de Araújo, Rafaela de Barros e Lima Bueno, Graziela Moura Aguiar, Jéssica Rodrigues Plaça, Cleidson de Pádua Alves, Anemari Ramos Dinarte dos Santos, Daniel Onofre Vidal, Gyl Eanes Barros Silva, Rodrigo Alexandre Panepucci, Fernanda Maris Peria, Omar Féres, José Joaquim Ribeiro da Rocha, Marco Antônio Zago, Wilson A. Silva
Software Mentions: 2
Published: over 3 years ago

10.1186/s12872-018-0867-4

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease
Cited by: 16
Author(s): Ehsan Razmara, Masoud Garshasbi
Software Mentions: 2
Published: over 6 years ago

10.1186/s12864-016-3088-1

e-GRASP: an integrated evolutionary and GRASP resource for exploring disease associations
Cited by: 4
Author(s): Sajjad Karim, Hend Noureldin, Heba Abusamra, Nada Salem, Elham Alhathli, Joel T. Dudley, Max Sanderford, Laura B. Scheinfeldt, Sudhir Kumar
Software Mentions: 2
Published: about 8 years ago

10.1186/s12881-015-0189-7

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism
Cited by: 10
Author(s): Wei Liu, John Wong, Qiuming He, Emily H M Wong, Clara S. Tang, Ruizhong Zhang, Man Ting So, Kenneth K. Wong, John M. Nicholls, Stacey S. Cherny, Pak C. Sham, Paul K. H. Tam, Maria Mercè García-Barceló, Huimin Xia
Software Mentions: 2
Published: over 9 years ago

10.1186/1755-8794-6-1

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C
Cited by: 72
Author(s): Daria Grafodatskaya, Barian H Y Chung, Darci T. Butcher, Andrei L. Turinsky, Sarah J. Goodman, Sana Choufani, Yi‐An Chen, Youliang Lou, Cheng Zhao, Rageen Rajendram, Fatima Abidi, Cindy Skinner, James Stavropoulos, Carolyn A. Bondy, Jill Hamilton, Shoshana J. Wodak, Stephen W. Scherer, Charles E. Schwartz, Rosanna Weksberg
Software Mentions: 2
Published: almost 12 years ago

10.1093/braincomms/fcab063

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
Cited by: 12
Author(s): Majida Charif, Naïg Guéguen, Marc Ferré, Zouhair Elkarhat, Salim Khiati, Morgane LeMao, Arnaud Chevrollier, Valérie Desquiret-Dumas, David Goudenège, Céline Bris, Selma Kane, Jennifer Alban, Stéphanie Chupin, Céline Wetterwald, Leonardo Caporali, Fabrizio Tagliavini, Chiara LaMorgia, Michele Carbonelli, Neringa Jurkutė, Abdelhamid Barakat, Philippe Gohier, Christophe Verny, Magalie Barth, Vincent Procaccio, Dominique Bonneau, Xavier Zanlonghi, Isabelle Meunier, Nicole Weisschuh, Simone Schimpf-Linzenbold, Felix Tonagel, Ulrich Kellner, Patrick Yu‐Wai‐Man, Valerio Carelli, Bernd Wissinger, Patrizia Amati‐Bonneau, Pascal Reynier, Guy Lenaers
Software Mentions: 2
Published: over 3 years ago

10.1002/mgg3.1529

NOTCH1 : Review of its role in lymphatic development and study of seven families with rare pathogenic variants
Cited by: 3
Author(s): Sandro Michelini, Maurizio Ricci, Roberta Serrani, Shila Barati, Sercan Kenanoğlu, Dominika Vešelényiová, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Sasi Priya, Astrit Dautaj, Munis Dündar, Juraj Krajčovič, Matteo Bertelli
Software Mentions: 2
Published: almost 4 years ago

10.1371/journal.pgen.1004304

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues
Cited by: 55
Author(s): Kimberly R. Kukurba, Rui Zhang, Xin Li, Kevin S. Smith, David A. Knowles, Meng How Tan, Robert Piskol, Monkol Lek, Daniel G. MacArthur, Jin Billy Li, Stephen B. Montgomery
Software Mentions: 2
Published: over 10 years ago

10.1007/s12020-017-1287-4

Mutations in proteasome-related genes are associated with thyroid hemiagenesis
Cited by: 16
Author(s): Bartłomiej Budny, Ewelina Szczepanek‐Parulska, Tomasz Żemojtel, Witold Szaflarski, Małgorzata Rydzanicz, Joanna Wesoły, Luiza Handschuh, Kosma Woliński, Katarzyna Piątek, Marek Niedziela, Katarzyna Ziemnicka, Marek Figlerowicz, Maciej Zabel, Marek Ruchała
Software Mentions: 2
Published: over 7 years ago

10.3389/fimmu.2019.02964

Exome Sequencing Identifies Susceptibility Loci for Sarcoidosis Prognosis
Cited by: 12
Author(s): Elisa Lahtela, Matti Kankainen, Juha Sinisalo, Olof Selroos, Marja-Liisa Lokki
Software Mentions: 2
Published: almost 5 years ago

10.3389/fimmu.2019.02526

A Non-interventional Clinical Trial Assessing Immune Responses After Radiofrequency Ablation of Liver Metastases From Colorectal Cancer
Cited by: 25
Author(s): Markus Löffler, Bianca Nussbaum, Günter Jäger, Philipp Jurmeister, Jan Budczies, Philippe L. Pereira, Stephan Clasen, Daniel J. Kowalewski, Lena Mühlenbruch, Ingmar Königsrainer, Stefan Beckert, Ruth Ladurner, Silvia Wagner, Florian Bullinger, Thorben Groß, Christopher Schroeder, Bence Sipos, Alfred Königsrainer, Stefan Stevanović, Carsten Denkert, Hans‐Georg Rammensee, Cécile Gouttefangeas, Sebastian P. Haen
Software Mentions: 2
Published: about 5 years ago

10.3389/fonc.2021.652696

Unique Combination of Diamond–Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report
Cited by: 1
Author(s): А. С. Цуканов, D. Yu. Pikunov, В. П. Шубин, Aleksey A. Barinov, В. Н. Кашников, Yuri Shelygin, А. Д. Каприн, Е. В. Филоненко, Д. В. Сидоров, Aleksey Maschan, Galina Novichkova, Ludmila Yasko, Е. В. Райкина, Aleksandr G. Rumyantsev
Software Mentions: 2
Published: over 3 years ago

10.1186/s13059-017-1174-6

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Cited by: 64
Author(s): Hongsheng Gui, Duco Schriemer, William Cheng, Rajendra K. Chauhan, Guillermo Antiñolo, Courtney Berrios, Marta Bleda, Alice S. Brooks, Rutger W. W. Brouwer, Alan J. Burns, Stacey S. Cherny, Joaquín Dopazo, Bart J. L. Eggen, Paola Griseri, Binta Jalloh, Thuy Linh Le, Vincent Chi-Hang Lui, Berta Lasa, Ivana Matera, Elly Sau-Wai Ngan, Anna Pelet, Macarena Ruíz-Ferrer, Pak C. Sham, Iain T. Shepherd, Man Ting So, Yunia Sribudiani, Clara S. Tang, Mirjam C G N van den Hout, Herma C. van der Linde, Tjakko J. van Ham, Wilfred F. J. van IJcken, Joanne Verheij, Jeanne Amiel, Salud Borrego, Isabella Ceccherini, Aravinda Chakravarti, Stanislas Lyonnet, Paul K. H. Tam, Maria Mercè García-Barceló, Robert M.W. Hofstra
Software Mentions: 2
Published: over 7 years ago

10.1172/jci.insight.149831

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib
Cited by: 26
Author(s): Nassim Homayun-Sepehr, Anna McCarter, Raphaël Helaers, Christine Galant, Laurence M. Boon, Pascal Brouillard, Miikka Vikkula, Michael T. Dellinger
Software Mentions: 2
Published: over 3 years ago

10.1038/s41598-019-42107-y

Integrative analysis identifies lincRNAs up- and downstream of neuroblastoma driver genes
Cited by: 14
Author(s): Dries Rombaut, Hua-Sheng Chiu, Bieke Decaesteker, Celine Everaert, Nurten Yigit, Agathe Peltier, Isabelle Janoueix‐Lerosey, Christoph Bartenhagen, Matthias Fischer, Stephen S. Roberts, Nicky D’Haene, Katleen De Preter, Frank Speleman, Geertrui Denecker, Pavel Sumazin, Jo Vandesompele, Steve Lefever, Pieter Mestdagh
Software Mentions: 2
Published: over 5 years ago

10.1038/s41598-020-60589-z

The genetics of situs inversus without primary ciliary dyskinesia
Cited by: 32
Author(s): Merel C. Postema, Amaia Carrion‐Castillo, Simon E. Fisher, Guy Vingerhoets, Clyde Francks
Software Mentions: 2
Published: over 4 years ago

10.3390/s16111924

Geometric Distribution-Based Readers Scheduling Optimization Algorithm Using Artificial Immune System
Cited by: 1
Author(s): Litian Duan, Zizhong John Wang, Duan Fu
Software Mentions: 2
Published: about 8 years ago

10.1093/hmg/ddt616

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
Cited by: 41
Author(s): James A. Poulter, Steven J. Brookes, R.C. Shore, Claire E. L. Smith, Layal Abi Farraj, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell
Software Mentions: 2
Published: almost 11 years ago

10.1002/humu.23777

Mutations inELAC2associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing
Cited by: 27
Author(s): Makenzie Saoura, Christopher Powell, Robert Kopajtich, Ahmad Alahmad, Haya H. Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L. Alston, Enrico Bertini, Penelope E. Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria Alice Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla‐Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo‐Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W. Taylor, Louis Levinger, Michal Minczuk
Software Mentions: 2
Published: over 5 years ago

10.18502/ijrm.v13i5.7158

Strategies for whole-exome sequencing analysis in a case series study of familial male infertility
Cited by: 0
Author(s): Masomeh Askari, Dor Mohammad Kordi-Tamandani, Navid Almadani, Mehdi Totonchi
Software Mentions: 2
Published: over 4 years ago

10.3390/ijms18020308

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
Cited by: 306
Author(s): Rick Kamps, Rita D. Brandão, Bianca Jc van den Bosch, Aimée D C Paulussen, Sofia Xanthoulea, Marinus J. Blok, Andrea Romano
Software Mentions: 2
Published: almost 8 years ago

10.18632/oncotarget.17959

Whole-exome sequencing identified genetic risk factors for asparaginase-related complications in childhood ALL patients
Cited by: 30
Author(s): Rachid Abaji, Vincent Gagné, Chang Xu, Jean-François Spinella, Francesco Ceppi, Caroline Laverdière, Jean‐Marie Leclerc, Stephen E. Sallan, Donna Neuberg, Jeffery L. Kutok, Lewis B. Silverman, Daniel Sinnett, Maja Krajinović
Software Mentions: 2
Published: over 7 years ago

10.18632/oncotarget.27119

ALK mutation dynamics and clonal evolution in a neuroblastoma model exhibiting two ALK mutations
Cited by: 5
Author(s): Simon Durand, Cécile Pierre-Eugène, Olivier Mirabeau, Caroline Louis‐Brennetot, Valérie Combaret, Léo Colmet‐Daage, Orphée Blanchard, Angela Bellini, Estelle Daudigeos-Dubus, Virginie Raynal, Gudrun Schleiermacher, Sylvain Baulande, Olivier Delattre, Isabelle Janoueix‐Lerosey
Software Mentions: 2
Published: over 5 years ago

10.3390/nu9040390

Novel Genetic Variants Associated with Child Refractory Esophageal Stricture with Food Allergy by Exome Sequencing
Cited by: 1
Author(s): Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding‐You Li, Sitang Gong
Software Mentions: 2
Published: over 7 years ago

10.1186/1546-0096-13-S1-P30

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease
Cited by: 1
Author(s): N Volker-Touw, Heleen D. de Koning, Tessa van Kempen, Karin Oberndorff, M.A.M. van Steensel, Jacques C. Giltay, Marianne Boes, Carolien G.F. de Kovel, Anna Simon, Joost Frenkel, Mariëlle van Gijn
Software Mentions: 1
Published: about 9 years ago

10.1038/s41388-018-0623-3

Recurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma
Cited by: 13
Author(s): Fida Khater, Sylvie Langlois, Pauline Cassart, Anne-Marie Roy, Mathieu Lajoie, Jasmine Healy, Chantal Richer, Pascal St-Onge, Nelson Piché, Sebastién Perreault, Sonia Cellot, Monia Marzouki, Nada Jabado, Daniel Sinnett
Software Mentions: 1
Published: almost 6 years ago

10.1186/1471-2156-14-93

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family
Cited by: 8
Author(s): Nejla Belhedi, Frédérique Bena, A. Mrabet, Michel Guipponi, C. Bouchlaka Souissi, Héla Mrabet, Amel Benammar Elgaaïed, Alain Malafosse, Annick Salzmann
Software Mentions: 1
Published: almost 12 years ago

10.1186/s12872-020-01822-5

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect
Cited by: 3
Author(s): Haisong Bu, Guoxiang Sun, Yun Zhu, Yifeng Yang, Zhiping Tan, Tianli Zhao, Shijun Hu
Software Mentions: 1
Published: almost 4 years ago

10.1371/journal.pone.0229025

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
Cited by: 6
Author(s): Uxia Esperón-Moldes, Manuel Ginarte-Val, L. Rodríguez-Pazos, Laura Fachal, A. Martín‐Santiago, A. Vicente, David Jiménez‐Gallo, Encarna Guillén-Navarro, Loreto Martorell, María Antonia González-Enseñat, Ana Vega
Software Mentions: 1
Published: almost 5 years ago

10.1371/journal.pone.0139738

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective
Cited by: 8
Author(s): Chen Zhao, Wei Ye, Zhe Long, Dacheng Ding, Hongxia Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
Software Mentions: 1
Published: about 9 years ago

10.1371/journal.pone.0067538

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
Cited by: 42
Author(s): Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Díez, María Dolores Miramar, Mar Infante, Cristina Martínez‐Bouzas, Alexandra Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Pérez Segura, María J. García, Sara Gutiérrez‐Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A. Velasco, María Teresa Calvo, Judith Balmañà, Javier Benı́tez, Trinidad Caldés, Ana Vega
Software Mentions: 1
Published: over 11 years ago

10.1371/journal.pone.0142631

Whole Exome Sequencing of Rapid Autopsy Tumors and Xenograft Models Reveals Possible Driver Mutations Underlying Tumor Progression
Cited by: 28
Author(s): Tao Xie, Mónica Musteanu, Pedro P. López-Casas, David J. Shields, Peter Olson, Paul A. Rejto, Manuel Hidalgo
Software Mentions: 1
Published: about 9 years ago

10.1371/journal.pone.0159609

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2
Cited by: 21
Author(s): Marijn C. Visschedijk, Rudi Alberts, Sören Mucha, Patrick Deelen, Dirk J. de Jong, Marieke Pierik, Lieke M. Spekhorst, Floris Imhann, Andrea E. van der Meulen–de Jong, Christien J. van der Woude, Adriaan A. van Bodegraven, Bas Oldenburg, Mark Löwenberg, Gerard Dijkstra, David Ellinghaus, Stefan Schreiber, Cisca Wijmenga, Manuel A. Rivas, André Franke, Cleo C. van Diemen, Rinse K. Weersma
Software Mentions: 1
Published: over 8 years ago

10.1371/journal.pone.0019011

Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder
Cited by: 59
Author(s): René Frank, Allan F. McRae, Andrew Pocklington, Louie N. van de Lagemaat, Pau Navarro, Mike D. R. Croning, Noboru H. Komiyama, Sophie J. Bradley, R. A. John Challiss, J. Douglas Armstrong, Alex Bateman, M. P. Malloy, Alan Maclean, Sarah E. Harris, John M. Starr, Sanjeev S. Bhaskar, Eleanor Howard, Sarah Hunt, Alison J. Coffey, Venkatesh Ranganath, Panos Deloukas, Jane Rogers, Walter Muir, Ian J. Deary, Douglas Blackwood, Peter M. Visscher, Seth G. N. Grant
Software Mentions: 1
Published: over 13 years ago

10.1186/s12885-018-5133-8

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
Cited by: 13
Author(s): Yosr Hamdi, Mariem Ben Rekaya, Jingxuan Shan, Majdi Nagara, Olfa Messaoud, Amel Benammar Elgaaïed, Ridha Mrad, Lotfi Chouchane, Mohamed Samir Boubaker, Sonia Abdelhak, Hamouda Boussen, Lilia Romdhane
Software Mentions: 1
Published: almost 6 years ago

10.1371/journal.pone.0203885

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition
Cited by: 17
Author(s): Lorena Martin‐Morales, Paula Rofes, Eduardo Dı́az-Rubio, Patricia Llovet, Víctor Lorca, Inmaculada Bando, Pedro Pérez‐Segura, Miguel de la Hoya, Pilar Garré, Vanesa García-Barberán, Trinidad Caldés
Software Mentions: 1
Published: about 6 years ago

10.1371/journal.pone.0087437

A Novel Mutation of Hyaluronan Synthase 2 Gene in Chinese Children with Ventricular Septal Defect
Cited by: 16
Author(s): Xiaomei Zhu, Xiaopeng Deng, Guangying Huang, Jing Wang, Jingwen Yang, Si Chen, Xu Ma, Binbin Wang
Software Mentions: 1
Published: almost 11 years ago

10.1186/s13578-019-0303-1

Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models
Cited by: 2
Author(s): Nini Zhang, Daniel P. Heruth, Weibin Wu, Li Qin Zhang, Marianne Nsumu, Katherine Shortt, Kelvin Li, Xun Jiang, Baoxi Wang, Craig A. Friesen, Ding‐You Li, Shui Qing Ye
Software Mentions: 1
Published: over 5 years ago

10.3390/children8060512

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta
Cited by: 8
Author(s): Michael F. Holick, Arash Shirvani, Nipith Charoenngam
Software Mentions: 1
Published: over 3 years ago

10.1002/ccr3.981

Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship
Cited by: 8
Author(s): Ida Vogel, Peter Ott, Dorte Launholt Lildballe, Stephen Hamilton-Dutoit, Hendrik Vilstrup, Henning Grønbæk
Software Mentions: 1
Published: over 7 years ago

10.1038/s41424-018-0064-x

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study
Cited by: 31
Author(s): Rémi Duclaux‐Loras, Fabienne Charbit‐Henrion, Bénédicte Neven, Jan Krzysztof Nowak, Sophie Collardeau‐Frachon, Christophe Malcus, Pierre F. Ray, Despina Moshous, Jacques Beltrand, Olivier Goulet, Nadine Cerf–Bensussan, A. Lachaux, Frédéric Rieux‐Laucat, Frank M Ruemmele
Software Mentions: 1
Published: about 6 years ago

10.3390/diagnostics11050886

Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings
Cited by: 7
Author(s): Simone Grassi, Mònica Coll, Óscar Campuzano, Vincenzo Arena, Alessandro Alfonsetti, Sabina Strano Rossi, Francesca Scarnicci, Anna Iglesias, Ramón Brugada, Antonio Oliva
Software Mentions: 1
Published: over 3 years ago

10.3390/diagnostics11081378

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era
Cited by: 13
Author(s): Vincenzo Castiglione, Martina Modena, Alberto Aimo, Enrica Chiti, Nicoletta Botto, Simona Vittorini, Benedetta Guidi, Giuseppe Vergaro, Andrea Barison, Andrea Rossi, Claudio Passino, Alberto Giannoni, Marco Di Paolo, M. Emdin
Software Mentions: 1
Published: over 3 years ago

10.15252/emmm.202012013

<scp>ALX</scp> 1‐ related frontonasal dysplasia results from defective neural crest cell development and migration
Cited by: 10
Author(s): Jonathan Pini, Janina Kueper, Yu Hu, Kenta Kawasaki, Patrick Ka Kit Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L. Maas, Justin Cotney, Yevgenya Grinblat, Eric C. Liao
Software Mentions: 1
Published: about 4 years ago

10.1007/s12020-020-02422-1

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
Cited by: 3
Author(s): Ewelina Szczepanek‐Parulska, Bartłomiej Budny, Martyna Borowczyk, Katarzyna Zawadzka, Paweł Sztromwasser, Marek Ruchała
Software Mentions: 1
Published: over 4 years ago

10.1186/1471-2407-13-55

Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia
Cited by: 23
Author(s): Vivian Y. Chang, Giuseppe Basso, Kathleen M. Sakamoto, Stanley F. Nelson
Software Mentions: 1
Published: almost 12 years ago

10.1186/s12885-015-1340-8

Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
Cited by: 33
Author(s): Bharanidharan Devarajan, Logambiga Prakash, Thirumalai Raj Kannan, Aloysius Abraham, Usha Kim, Veerappan Muthukkaruppan, Ayyasamy Vanniarajan
Software Mentions: 1
Published: over 9 years ago

10.3389/fendo.2020.00368

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)
Cited by: 13
Author(s): Bartłomiej Budny, Tomasz Żemojtel, Małgorzata Kałużna, Paweł Gut, Marek Niedziela, Monika Obara-Moszyńska, Barbara Rabska-Pietrzak, Katarzyna Karmelita‐Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elżbieta Wrotkowska, Ewelina Bukowska‐Olech, Aleksander Jamsheer, Marek Ruchała, Katarzyna Ziemnicka
Software Mentions: 1
Published: over 4 years ago

10.3389/fendo.2020.534362

Identification of Maturity-Onset Diabetes of the Young Caused by Mutation in FOXM1 via Whole-Exome Sequencing in Northern China
Cited by: 5
Author(s): Liang Zhong, Zengyi Zhao, HU Qing-shan, Yang Li, Wei‐Li Zhao, Chuang Li, Yunqiang Xu, Ruijuan Rong, Jing Zhang, Zifeng Zhang, Nan Li, Zanchao Liu
Software Mentions: 1
Published: almost 4 years ago

10.3389/fendo.2020.00234

A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors
Cited by: 16
Author(s): Carlotta Pozza, Franz Sesti, Carla Di Dato, Emilia Sbardella, Riccardo Pofi, Francesca Schiavi, Vincenzo Bonifacio, Andrea M. Isidori, Antongiulio Faggiano, Andrea Lenzi, Elisa Giannetta
Software Mentions: 1
Published: over 4 years ago

10.3389/fendo.2020.00036

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules
Cited by: 7
Author(s): Beatriz Marinho de Paula Mariani, Mirian Yumie Nishi, Ingrid Quevedo Wanichi, Vânia Balderrama Brondani, Amanda Meneses Ferreira Lacombe, Helaine Laiz Silva Charchar, Maria Adelaide Albergaria Pereira, Victor Srougi, Fábio Y Tanno, Filippo Ceccato, Daniela Regazzo, Mattia Barbot, Gianluca Occhi, Nora Albiger, Marcelo Vieira-Corrêa, Cláudio E. Kater, Carla Scaroni, José L Chambô, Maria Cláudia Nogueira Zerbini, Berenice Bilharinho Mendonça, Madson Q. Almeida, Maria Candida Barisson Villares Fragoso
Software Mentions: 1
Published: almost 5 years ago

10.3389/fgene.2018.00153

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
Cited by: 20
Author(s): Li Yang, Jing Peng, Xiaomeng Yin, nan sim Pang, Chen Chen, Tenghui Wu, Xiaomin Zou, Fei Yin
Software Mentions: 1
Published: over 6 years ago

10.3389/fgene.2019.00485

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
Cited by: 24
Author(s): Chao Gao, Xiaona Wang, Shiyue Mei, Dongxiao Li, Jiali Duan, Pei Zhang, Baiyun Chen, Han Liang, Yang Gao, Zhenhua Yang, Bing Li, Xiu‐An Yang
Software Mentions: 1
Published: over 5 years ago

10.3389/fgene.2014.00148

In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools
Cited by: 14
Author(s): Madhumathi Manickam, Palaniyandi Ravanan, Pratibha Singh, Priti Talwar
Software Mentions: 1
Published: over 10 years ago

10.3389/fgene.2019.00749

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome
Cited by: 10
Author(s): Yongjian Yue, Huang Qing-yun, Peng Zhu, Pan Zhao, Xinjuan Tan, Shengguo Liu, Shulin Li, Xuemei Han, Linling Cheng, Bo Li, Yingyun Fu
Software Mentions: 1
Published: over 5 years ago

10.3389/fgene.2021.631221

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China
Cited by: 1
Author(s): Binyi Yang, Lei Cheng, Danhui Yang, Zhiping Tan, Tao Guo, Hong Luo
Software Mentions: 1
Published: over 3 years ago

10.3390/ijms150813267

The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis
Cited by: 8
Author(s): Nan Li, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, Weibo Xia
Software Mentions: 1
Published: over 10 years ago

10.1186/s13023-019-1094-5

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Cited by: 5
Author(s): Jean-Daniel Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre Antoine Rollat‐Farnier, Caroline Schluth-Bolard, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloès, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Massimiliano Rossi
Software Mentions: 1
Published: over 5 years ago

10.3389/fmed.2021.699672

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss
Cited by: 6
Author(s): Nourah Hasan Al Qahtani, Sayed AbdulAzeez, Noor B. Almandil, Norah Fahad Alhur, Hind Saleh Alsuwat, Hatoon Ahmed Al Taifi, Ahlam Alghamdi, B. Rabindran Jermy, Mohamed Abouelhoda, Shazia Subhani, Lubna Ibrahim Al Asoom, J. Francis Borgio
Software Mentions: 1
Published: over 3 years ago

10.1186/s12885-020-07250-0

Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC)
Cited by: 13
Author(s): Fatima Zahra El Ansari, Farah Jouali, Nabila Marchoudi, Mohcine Bennani, Naima Ghailani, Amina Barakat, Jamal Fekkak
Software Mentions: 1
Published: over 4 years ago

10.3390/ijms22158082

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
Cited by: 1
Author(s): Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
Software Mentions: 1
Published: over 3 years ago

10.3390/genes10100833

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients
Cited by: 6
Author(s): Bénédicte Demeer, Nicole Revençu, Raphaël Helaers, C. Gbaguidi, Stéphanie Dakpé, Geneviève François, Bernard Devauchelle, Bénédicte Bayet, Miikka Vikkula
Software Mentions: 1
Published: about 5 years ago

10.1007/s00415-019-09307-y

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Cited by: 9
Author(s): Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola, Bjarne Udd
Software Mentions: 1
Published: over 5 years ago

10.18632/oncotarget.11796

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations
Cited by: 41
Author(s): Jean-François Spinella, Pauline Cassart, Chantal Richer, Virginie Saillour, Manon Ouimet, Sylvie Langlois, Pascal St-Onge, Thomas Sontag, Jasmine Healy, Mark D. Minden, Daniel Sinnett
Software Mentions: 1
Published: about 8 years ago

10.1038/srep16473

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
Cited by: 27
Author(s): Berta Lasa, Hongsheng Gui, Macarena Ruíz-Ferrer, Clara S. Tang, Raquel Fernandez, Pak-Chung Sham, Ana Torroglosa, Paul Kwong‐Hang Tam, Laura Espino-Paisán, Stacey S. Cherny, Marta Bleda, María del Valle Enguix-Riego, Joaquín Dopazo, Guillermo Antiñolo, María-Mercé García-Barceló, Salud Borrego
Software Mentions: 1
Published: about 9 years ago

10.1038/srep44185

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
Cited by: 21
Author(s): Mohsin Shahzad, Sairah Yousaf, Yar Muhammad Waryah, Hadia Gul, Tasleem Kausar, Nabeela Tariq, Umair Mahmood, Muhammad Ali, Muzammil Ahmad Khan, Ali Muhammad Waryah, Rehan Sadiq Shaikh, Saima Riazuddin, Zubair M. Ahmed
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-017-02074-8

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
Cited by: 15
Author(s): Guillermo Pousada, Vincenzo Lupo, Sheila Castro-Sánchez, María Álvarez-Satta, Ana Sánchez‐Monteagudo, Adolfo Baloira, Carmen Espinós, Diana Valverde
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-017-08510-z

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families
Cited by: 23
Author(s): Tao Guo, Zhiping Tan, Hua-Mei Chen, Danying Zheng, Lv Liu, Xueqing Huang, Ping Chen, Hong Luo, Yifeng Yang
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-018-20281-9

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
Cited by: 24
Author(s): Sandy Elbitar, Delia Susan‐Resiga, Youmna Ghaleb, Petra El Khoury, Gina M. Peloso, Nathan O. Stitziel, Jean-Pierre Rabès, Valérie Carreau, Josée Hamelin, Ali Ben-Djoudi-Ouadda, Éric Bruckert, Cathérine Boileau, Nabil G. Seidah, Mathilde Varret, Marianne Abifadel
Software Mentions: 1
Published: almost 7 years ago

10.1186/s12885-019-5837-4

Impact of genetic mutations and nutritional status on the survival of patients with colorectal cancer
Cited by: 19
Author(s): Mariana Abe Vicente Cavagnari, Tiago Donizetti Silva, Marco Antonio Haddad Pereira, Luísa Jacques Sauer, David Carlos Shigueoka, Sarhan Sydney Saad, Katia Barão, Carla Caroline Dias Ribeiro, Nora Manoukian Forones
Software Mentions: 1
Published: over 5 years ago

10.1038/s41598-018-34750-8

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs
Cited by: 5
Author(s): Yosuke Kokunai, Carine Dalle, Savine Vicart, Damien Sternberg, Valérie Pouliot, Saı̈d Bendahhou, Emmanuel Fournier, Mohamed Chahine, Bertrand Fontaine, Sophie Nicole
Software Mentions: 1
Published: about 6 years ago

10.18632/oncotarget.9797

FOXC2disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function
Cited by: 27
Author(s): Daniela Tavian, Sara Missaglia, Paolo Enrico Maltese, Sandro Michelini, A. Fiorentino, Maurizio Ricci, Roberta Serrani, Michael A. Walter, Matteo Bertelli
Software Mentions: 1
Published: over 8 years ago

10.18632/oncotarget.16531

BMPR1Bmutation causes Pierre Robin sequence
Cited by: 18
Author(s): Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yang Luo, Lingxia Zhao, Min Tu, Yimin Zhu
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-020-63256-5

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Cited by: 13
Author(s): Matías Morín, Lucía Borreguero, Kevin T. Booth, María Lachgar, P.L.M. Huygen, Manuela Villamar, Fernando Mayo, Luis C. Barrio, L. Sa ntos Serrão de Castro, Cecilia M. Morales, Ignacio del Castillo, B Arellano, Dolores Tellerı́a, Richard J.H. Smith, Héla Azaiez, Miguel A. Moreno-Pelayo
Software Mentions: 1
Published: over 4 years ago

10.1038/s41598-020-72089-1

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
Cited by: 16
Author(s): Mauro Lago-Docampo, Jair Tenorio, Ignacio Hernández-González, Carmen Pérez‐Olivares, Pilar Escribano, Guillermo Pousada, Adolfo Baloira, Miguel Arenas, Pablo Lapunzina, Diana Valverde
Software Mentions: 1
Published: about 4 years ago

10.1038/s41598-021-82024-7

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
Cited by: 4
Author(s): Kerstin Hoppe, Karin Jurkat‐Rott, Stefanie Kranepuhl, Scott Wearing, Sebastian Heiderich, Sonja Merlak, Werner Klingler
Software Mentions: 1
Published: almost 4 years ago

10.6064/2012/701810

Mitochondrial Cytochrome c Oxidase Subunit 1 Sequence Variation in Prostate Cancer
Cited by: 10
Author(s): Takara A. Scott, Rebecca S. Arnold, John A. Petros
Software Mentions: 1
Published: almost 13 years ago

10.1186/s12885-015-1549-6

Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes
Cited by: 28
Author(s): Jean-François Spinella, Jasmine Healy, Virginie Saillour, Chantal Richer, Pauline Cassart, Manon Ouimet, Daniel Sinnett
Software Mentions: 1
Published: over 9 years ago

10.3390/s19245419

Optimized LOAM Using Ground Plane Constraints and SegMatch-Based Loop Detection
Cited by: 21
Author(s): Xiao Liu, Lei Zhang, Shengran Qin, Daji Tian, Shihan Ouyang, Chu Chen
Software Mentions: 1
Published: almost 5 years ago

10.4274/tjh.galenos.2019.2019.0094

In silico study of correlation between missense variations of F8 gene and inhibitor formation in severe hemophilia A
Cited by: 0
Author(s): Mostefa Fodil, Faouzia Zemani
Software Mentions: 1
Published: almost 5 years ago

10.18632/oncotarget.19010

Whole-exome analysis in osteosarcoma to identify a personalized therapy
Cited by: 35
Author(s): Caterina Chiappetta, Massimiliano Mancini, Francesca Lessi, Paolo Aretini, Veronica De Gregorio, Chiara Puggioni, Raffaella Carletti, Vincenzo Petrozza, Prospero Civita, Sara Franceschi, Antonio Giuseppe Naccarato, Carlo Della Rocca, Chiara Maria Mazzanti, Claudio Di Cristofano
Software Mentions: 1
Published: over 7 years ago

10.1186/s13023-021-02002-0

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Cited by: 1
Author(s): Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Xueyan Wu
Software Mentions: 1
Published: about 3 years ago

10.1186/s12863-016-0384-3

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension
Cited by: 21
Author(s): Guillermo Pousada, Adolfo Baloira, Diego Fontán, Marta Núñez, Diana Valverde
Software Mentions: 1
Published: over 8 years ago

10.1186/s13046-018-0746-y

Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene
Cited by: 20
Author(s): Duarte Mendes Oliveira, Katia Grillone, Chiara Mignogna, Valentina De Falco, Carmelo Laudanna, Flavia Biamonte, Rosa Locane, Francesco Corcione, Massimiliano Fabozzi, Rosario Sacco, Giuseppe Viglietto, Donatella Malanga, Antonia Rizzuto
Software Mentions: 1
Published: over 6 years ago

10.1186/s13023-014-0141-5

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Cited by: 25
Author(s): Sylvia Stöckler, Silvia Corvera, David G. Lambright, Kevin E. Fogarty, Ekaterina Nosova, Deborah Marie Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicholas Au, Kathrin Selby, Margot Van Allen, Hilary Vallance, Ron A. Wevers, David Watkins, David S. Rosenblatt, Colin J.D. Ross, Elizabeth Conibear, Wyeth W. Wasserman, Clara van Karnebeek
Software Mentions: 1
Published: about 10 years ago

10.1186/s12883-021-02113-y

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Cited by: 7
Author(s): Ashraf Yahia, Zhefan Stephen Chen, Ammar Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
Software Mentions: 1
Published: almost 4 years ago

10.1186/1471-2229-9-74

Exploring transcriptional signalling mediated by OsWRKY13, a potential regulator of multiple physiological processes in rice
Cited by: 73
Author(s): Dexin Qiu, Jun Xiao, Weibo Xie, Hongyan Cheng, Xianghua Li, Shiping Wang
Software Mentions: 1
Published: over 15 years ago

10.1186/s12884-020-03391-z

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation
Cited by: 1
Author(s): Ye Tian, Guojie Wang, Wujuan Shi, Xue Bai
Software Mentions: 1
Published: about 4 years ago

10.1042/BSR20203356

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese population
Cited by: 7
Author(s): Yougui Wu, Hairui Sun, Jianbin Wang, Xin Wang, Ming Gong, Lu Han, Yihua He, Hongjia Zhang
Software Mentions: 1
Published: almost 4 years ago

10.1002/brb3.451

Underestimated associated features in<scp>CMT</scp>neuropathies: clinical indicators for the causative gene?
Cited by: 23
Author(s): Friederike Werheid, Hamid Azzedine, Eva Zwerenz, Ahmet Bozkurt, Marcus J. Moeller, Lilian Tsai-Wei Lin, Michael Mull, Martin Häusler, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys
Software Mentions: 1
Published: over 8 years ago

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