Ambrose, Anastasia Bahl, Shalini Sharma, Saloni Zhang, Dan Hung, Clara Jain-Ghai, Shailly Chan, Alicia Mercimek-Andrews, Saadet
Published in
Orphanet journal of rare diseases
Primary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic variants in the mitochondrial genome (mtDNA) or nuclear genome (nDNA) that impair mitochondrial function and/or structure. We hypothesize that there is overlap between PMD and other genetic diseases that are mimicking PMD. For thi...
Skrypnyk, Cristina AlHarmi, Rawan Mathur, Aanchal AlHafnawi, Hussein Hifnawi Chandan Appikonda, Sri Hari Matsa, Lova Satyanarayana
Published in
BMC pregnancy and childbirth
Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This study aims to identify the carrier genetic status of couples experienc...
Gippert, Sebastian Wagner, Matias Brunet, Theresa Berruti, Riccardo Brugger, Melanie Schwaibold, Eva M C Haack, Tobias B Hoffmann, Georg F Bettendorf, Markus Choukair, Daniela
...
Published in
Endocrine
Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases. We performed exome sequencing (ES) in 106 children recruited from a single center within the TRANSLATE‑NAMSE project. They were categorized into subgroups: proportionate short stature (PSS), disproportionate short stature (DSS), hypopituitarism (H), d...
Wright, Jessica R Astrovskaya, Irina Barns, Sarah D Goler, Alexandra Zhou, Xueya Shu, Chang Snyder, LeeAnne Green Han, Bing Shen, Yufeng Volfovsky, Natalia
...
Published in
Genetics in medicine : official journal of the American College of Medical Genetics
The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings. We present results ...
Koenigbauer, Josefine Theresia Fangmann, Laura Reinhardt, Charlotte Weichert, Alexander Henrich, Wolfgang Saskia, Biskup Gabriel, Heinz-Peter
Published in
Archives of gynecology and obstetrics
Congenital malformations of the kidney and urinary tract (CAKUT) have a prevalence of 4-60 in 10,000 livebirths and constitute for 40-50% of all end stage pediatric kidney disease. CAKUT can have a genetic background due to monogenetic inherited disease, such as PKD or ciliopathies. They can also be found in combination with extra-renal findings as...
Vuocolo, Blake German, Ryan J Lalani, Seema R Murali, Chaya N Bacino, Carlos A Baskin, Stephanie Littlejohn, Rebecca Odom, John D McLean, Scott Schmid, Carrie
...
Published in
Genetics in medicine : official journal of the American College of Medical Genetics
Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved an...
Barbotin, Anne-Laure Boursier, Angele Jourdain, Anne-Sophie Moerman, Alexandre Rabat, Baptiste Chehimi, Mariam Thuillier, Caroline Ghoumid, Jamal Smol, Thomas
In this study, we investigated the role of a newly identified homozygous variant (c.1245 + 6T > C) in the CFAP61 gene in the development of multiple morphologically abnormal flagella (MMAF) in an infertile patient. Using exome sequencing, we identified this variant, which led to exon 12 skipping and the production of a truncated CFAP61 protein. Tra...
Sebastián de Lucas, Lorena María Ordás Álvarez, Polán de Castro Marzo, Laura Illescas Molina, Tamara Herrero, Beatriz Bartha, José Luis Antolín, Eugenia
Published in
Fetal Diagnosis and Therapy
Introduction: Nonimmune hydrops fetalis (NIHF) is the most frequent etiology of hydrops fetalis (HF), accounting for around 95% of cases. It associates high perinatal mortality and morbidity rates. The aim of the study was, first, to investigate etiology, prenatal management, and perinatal outcome in a large single-center series of HF; second, to i...
Yu, Qiu-Xia Zhen, Li Li, Dong-Zhi
Published in
Fetal Diagnosis and Therapy
Introduction: CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. Case Presentation: This was a retrospective study of 13 cases with CHARGE syndrome diagnosed b...
Zheng, Yucan Guo, Hongmei Chen, Leilei Cheng, Weixia Yan, Kunlong Zhang, Zhihua Li, Mei Jin, Yu Hu, Guorui Wang, Chunli
...
Published in
Hepatology international
Cholestatic liver disease is a leading referral to pediatric liver transplant centers. Inherited disorders are the second most frequent cause of cholestasis in the first month of life. We retrospectively characterized the genotype and phenotype of 166 participants with intrahepatic cholestasis, and re-analyzed phenotype and whole-exome sequencing (...
