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Research Interests

Papers共 86 篇Author StatisticsCo-AuthorSimilar Experts

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Alanna Strong, Caoimhe McKenna,Karen Stals,Antonio Vitobello, Mathilde Renaud,Claudine Rieubland,Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell,A Micheil Innes, Alyssa L Rippert, Rebecca Ahrens-Nicklas,Elizabeth Bhoj, Kiersten Keller,Bimal P Chaudhari, Brandon S Stone
American journal of medical genetics Part App.e64119-e64119, (2025)
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Bi-allelic MED16 Variants Cause a MEDopathy with Intellectual Disability, Motor Delay, and Craniofacial, Cardiac, and Limb Malformations
Charlotte Guillouet, Valeria Agostini,Geneviève Baujat, Dario Cocciadiferro,Tommaso Pippucci,Marion Lesieur-Sebellin, Mathieu Georget,Ulrich Schatz,Christine Fauth,Raymond J Louie, Curtis Rogers, Jessica M Davis,Vassiliki Konstantopoulou,Johannes A Mayr,Arjan Bouman,Martina Wilke,Grace E VanNoy,Eleina M England, Kristen L Park, Kathleen Brown,Margarita Saenz,Antonio Novelli,Maria Cristina Digilio, Gioia Mastromoro, Mauro Ciro Antonio Rongioletti,Gerardo Piacentini,Rauan Kaiyrzhanov, Sughra Guliyeva, Lala Hasanova,Deborah Shears, Ishita Bhatnagar,Karen Stals, Oliver Klaas,Judit Horvath, University of Washington Center for Mendelian Genomics, Patrice Bouvagnet,P Dane Witmer, Gretchen MacCarrick, Katarina Cisarova,Jean-Marc Good, Svetlana Gorokhova,Odile Boute, Thomas Smol,Ange-Line Bruel,Olivier Patat, Julia R Broadbent, Tiong Y Tan, Natalie B Tan,Stanislas Lyonnet, Tiffany Busa, Claudio Graziano,Jeanne Amiel,Christopher T Gordon
American journal of human geneticsno. 4 (2025): 829-845
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P333: Rapid Exome/genome Sequencing in Acute Pediatric Settings Influences Acute and Long-Term Management of Patients and Their Families
Swati Naik, Ramanand Jeeneea, Madhura Chandrashekara, Lorraine Hartles-Spencer,Karen Stals,Andrew Parrish
Genetics in Medicine Open (2025): 102298
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Author Statistics

#Papers: 86

#Citation: 2220

H-Index: 24

G-Index: 46

Sociability: 7

Diversity: 2

Activity: 21

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