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Research Interests

Papers共 30 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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P180: Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach
Maria Guillen Sacoto,Houda Elloumi,Stephen McGee, Vincent Ustach,Tracy Brandt
Genetics in Medicine Open (2024): 101077
Cited0Views0Bibtex
0
0
O35: Feasibility of Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions in a Diverse City
Wendy Chung,Alban Ziegler, Carrie Koval-Burt,Denise Kay,Sharon Suchy, Amber Bergtrup,Katherine Langley,Laura Amendola, Brenna Boyd, Jennifer Bradley,Tracy Brandt, Lilian Cohen,Alison Coffey,Joseph Devaney, Beata Dygulska,Bethany Friedman,Ramsey Fuleihan, Awura Gyimah,Rebecca Hernan, Sean Hofherr
Genetics in Medicine Open (2024): 101369
Cited0Views0Bibtex
0
0
Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-related Neurodevelopmental Condition
Elizabeth E. Palmer,Michael Pusch,Alessandra Picollo, Caitlin Forwood,Matthew H. Nguyen,Vanessa Suckow, Jessica Gibbons,Alva Hoff,Lisa Sigfrid,Andre Megarbane,Mathilde Nizon,Benjamin Cogné,Claire Beneteau,Fowzan S. Alkuraya,Aziza Chedrawi,Mais O. Hashem,Hannah Stamberger,Sarah Weckhuysen,Arnaud Vanlander,Berten Ceulemans,Sulekha Rajagopalan,Kenneth Nunn,Stéphanie Arpin,Martine Raynaud,Constance S. Motter,Catherine Ward-Melver,Katrien Janssens,Marije Meuwissen,Diane Beysen,Nicola Dikow,Mona Grimmel,Tobias B. Haack,Emma Clement,Amy McTague,David Hunt,Sharron Townshend,Michelle Ward,Linda J. Richards,Cas Simons,Gregory Costain,Lucie Dupuis,Roberto Mendoza-Londono,Tracy Dudding-Byth,Jackie Boyle,Carol Saunders,Emily Fleming,Salima El Chehadeh,Marie-Aude Spitz,Amelie Piton,Bénédicte Gerard,Marie-Thérèse Abi Warde,Gillian Rea,Caoimhe McKenna,Sofia Douzgou,Siddharth Banka,Cigdem Akman,Jennifer M. Bain,Tristan T. Sands,Golder N. Wilson, Erin J. Silvertooth, Lauren Miller,Damien Lederer,Rani Sachdev,Rebecca Macintosh,Olivier Monestier,Deniz Karadurmus,Felicity Collins,Melissa Carter,Luis Rohena,Marjolein H. Willemsen,Charlotte W. Ockeloen,Rolph Pfundt,Sanne D. Kroft,Michael Field,Francisco E. R. Laranjeira,Ana M. Fortuna,Ana R. Soares,Vincent Michaud,Sophie Naudion,Sailaja Golla,David D. Weaver,Lynne M. Bird,Jennifer Friedman,Virginia Clowes,Shelagh Joss,Laura Pölsler,Philippe M. Campeau,Maria Blazo,Emilia K. Bijlsma,Jill A. Rosenfeld,Christian Beetz,Zöe Powis,Kirsty McWalter,Tracy Brandt,Erin Torti, Mikaël Mathot,Shekeeb S. Mohammad,Ruth Armstrong,Vera M. Kalscheuer
MOLECULAR PSYCHIATRYno. 2 (2023): 668-697
Cited19Views0WOSNATUREBibtex
19
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Author Statistics

#Papers: 30

#Citation: 1781

H-Index: 15

G-Index: 20

Sociability: 6

Diversity: 2

Activity: 11

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