Results 221 to 230 of about 1,041,152 (399)

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family [PDF]

, 2011
Gladys Montenegro, Eric Powell, Jiaqiang Huang, Fiorella Speziani, Yvonne J. K. Edwards, Gary W. Beecham, William Hulme, Carly E. Siskind, Jeffery M. Vance, Michael E. Shy, Stephan Züchner   +10 more
openalex   +1 more source

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology
Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper   +29 more
doaj   +1 more source

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency [PDF]

, 2011
Linghua Wang, Shuichi Tsutsumi, Tokuichi Kawaguchi, Koichi Nagasaki, Kenji Tatsuno, Shogo Yamamoto, Fei Sang, Kohtaro Sonoda, Minoru Sugawara, Akio Saiura, Seiko Hirono, Hiroki Yamaue, Yoshio Miki, Minoru Isomura, Yasushi Totoki, Genta Nagae, Takayuki Isagawa, Hiroki Ueda, Satsuki Murayama-Hosokawa, Tatsuhiro Shibata, Hiromi Sakamoto, Yae Kanai, Atsushi Kaneda, Tetsuo Noda, Hiroyuki Aburatani   +24 more
openalex   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

, 2009
Murim Choi, Ute I. Scholl, Weizhen Ji, Tiewen Liu, Irina R. Tikhonova, Paul Zumbo, Ahmet Nayır, Ayşı̇n Bakkaloğlu, Seza Özen, Sami A. Sanjad, Carol Nelson‐Williams, Anita Farhi, Shrikant Mane, Richard P. Lifton   +13 more
openalex   +1 more source

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 [PDF]

, 2011
Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson, Peixian Chen, Carrie Sougnez, Kiran Garimella, Stacey Gabriel, Mark A. DePristo, Khalid Shakir, Dietrich Matern, Soma Das, Darrel Waggoner, Dan L. Nicolae, Carole Ober   +14 more
openalex   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Modeling Read Counts for CNV Detection in Exome Sequencing Data [PDF]

, 2011
Michael I. Love, Alena Myšičková, Ruping Sun, Vera M. Kalscheuer, Martin Vingron, Stefan A. Haas   +5 more
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient

Clinical Case Reports
Key Clinical Message AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease‐relevant variants within a polymicrobial pulmonary infection case.
Tianyuan Wang, Jindi Ma, Yuan Shu, Bao Hong, Zhouhan Wang, Yingfeng Lu, Xiaopeng Yu, Xi Huang, Yimin Zhang   +8 more
doaj   +1 more source