Results 161 to 170 of about 207,257 (328)

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration [PDF]

, 2011
Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, James C. Mullikin, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, NISC Comparative Sequencing Program   +15 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype [PDF]

, 2011
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli, John J. Mitchell, S. Melançon, Natascia Anastasio, Kevin Ha, Jacek Majewski, David S. Rosenblatt, Nancy Braverman   +9 more
openalex   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 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

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer [PDF]

, 2011
Tao Jiang, Lei Yang, Hui Jiang, Geng Tian, Xiuqing Zhang   +4 more
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +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