Journal Papers 208 Related Insights 0
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline Helle, Katherine; Bengtsson, Jesse D.; Gandhi, Mira; Grochowski, Christopher M.; Lun, Ming Yin; Sudhir, Neha; Jhangiani, Shalini N.; Sedlazeck, Fritz J.; Lalani, Seema R.; Hanchard, Neil A.; Carvalho, Claudia M. B. Share Save
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature Nisbet, Alex F.; Adams, Sylvie A.; Katz, Zoe S.; Delagrammatikas, Christal G.; Izumi, Kosuke; Sigal, Winifred; Ventarola, Kim; Zackai, Elaine H.; Reid, Julia E.; Liu, Grant T.; Kalish, Jennifer M. Share Save
Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum Yilmaz, Serife Ozturk; Yigit, Ayca; Hatipoglu, Sevcan; Gursoy, Semra; Gulcu, Aytac; Turhan, Tuncer; Pekerbas, Mert; Soylu, Alper; Ozbek, Ugur; Bozkaya, Ozlem Giray Share Save
Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort Blair, Justin; Carratu, Kevin; Rintoul, Natalie E.; Hedrick, Holly L.; Peranteau, William H.; Avitabile, Catherine M.; McWalter, Kirsty; Kruszka, Paul; Krantz, Ian D.; Wild, K. Taylor Share Save
Targeted Anti-IL-1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L-Related Arrhythmogenic Cardiomyopathy Renberg, Aaron; Coppersmith, Savannah; Merritt, Owen; Heider, Amer; Helms, Adam; Michniacki, Thomas; Luxford, Jack; Josephi-taylor, Sarah; Roberts, Philip; Meisner, Joshua Share Save
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym Turnovec, Marek; Bubenikova, Adela; Rydlo, Ondrej; Skalicky, Petr; Zapotocky, Michal; Haratek, Krystof; Kocandrlova, Karolina; Macek Jr, Milan; Benes III, Vladimir; Bradac, Ondrej; Havlovicova, Marketa Share Save
Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index Mahoney, Kyle; Crocker, Kelsey; Blair, Justin; Carratu, Kevin; Araya, Grace; Kaur, Maninder; Raible, Sarah E.; Luo, Minjie; Conway, Laura; Hartman, Tiffiney R.; Krantz, Ian D. Share Save
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence Nicastro, Emanuele; Zuccoli, Caterina; Marozzi, Roberto; Barletta, Antonino; Licini, Lisa; Tebaldi, Paola; Casotti, Valeria; Stinco, Mariangela; Pezzani, Lidia; Iascone, Maria; D'Antiga, Lorenzo Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}