Search Results - "Reichert, Sara L."

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa by Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe

“…Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by…”
Get full text

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation by Reichert, Sara L., Dechene, Elizabeth, Lulis, Lauren, Valverde, Kathleen, Conway, Laura, Dulik, Matthew

“…The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training…”
Get full text

Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops-Expanding the phenotype of IPEX syndrome by Reichert, Sara L., McKay, Eileen M., Moldenhauer, Julie S.

“…IPEX Syndrome is a well‐characterized, however rare, autoimmune condition primarily affecting males presenting with neonatal onset of severe diarrhea,…”
Get full text

Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital by Regan‐Fendt, Kelly E., Rippert, Alyssa L., Medne, Livija, Skraban, Cara M., DeJesse, Jeshua, Gray, Christopher, Reichert, Sara L., Staropoli, Nicholas P., Santos, Francis Jeshira Reynoso, Krantz, Ian D., Murrell, Jill R., Izumi, Kosuke

“…SRRM2‐related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss‐of‐function variants in SRRM2. In order to understand the…”
Get full text

Atypical Williams syndrome in an infant with complete atrioventricular canal defect by Ahrens-Nicklas, Rebecca C., Reichert, Sara L., Zackai, Elaine H., Kaplan, Paige B.

“…Williams‐Beuren Syndrome (WBS) is a well‐described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis,…”
Get full text

Continuing education and professional development: Unifying opportunities for genetic counselors globally by Valverde, Kathleen D., Hartman, Tiffiney R., Reichert, Sara L., Bennett, Robin L., Dudek, Martha, Duquette, Debra, Riconda, Daniel, Cox, Nancy J., Jarvik, Gail P., Elsea, Sarah H., McNally, Elizabeth M., Worley, Kim C., Rader, Daniel J.

Get full text