Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 156 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
时间
引用量
主题
期刊级别
合作者
合作机构
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients with Kleefstra Syndrome
Zoe J. Frazier, Seyda Kilic, Hailey Osika,Alisa Mo, Meg Quinn, Sonia Ballal, Tamar Katz, A. Eliot Shearer, Max A. Horlbeck,Lynn S. Pais,Kira A. Dies,Anne O'Donnell-Luria, Joe Kossowsky, Jonathan O. Lipton,Tjitske Kleefstra,Siddharth Srivastava
CLINICAL GENETICS (2025)
Cited0Views0WOSBibtex
0
0
ADAT3 Variants Disrupt the Activity of the ADAT Trna Deaminase Complex and Impair Neuronal Migration
Jordi Del-Pozo-Rodriguez,Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Elena Brivio, Till Balla, Marina Vitoria Gomes, Elizabeth Ramos-Morales, Noémie Schwaller,Thalia Salinas-Giegé,Grace VanNoy, Eleina M England,Alysia Kern Lovgren,Melanie O'Leary,Maya Chopra, Naomi Meave Ojeda,Mehran Beiraghi Toosi,Atieh Eslahi, Masoome Alerasool,Majid Mojarrad, Lynn S Pais, Rebecca C Yeh, Dustin L Gable, Mais O Hashem, Firdous Abdulwahab, Muath Rakiz Alqurashi, Loai Z Sbeih, Omar Abu Adas Blanco, Renad Abu Khater,Gabriela Oprea, Aboulfazl Rad, Hamad Alzaidan,Hesham Aldhalaan, Ehab Tous, Afaf Alsagheir, Mohammed Alowain, Abdullah Tamim, Khowlah Alfayez,Amal Alhashem, Aisha Alnuzha, Mona Kamel, Bashayer S Al-Awam, Walaa Elnaggar, Nihal Almenabawy,Anne O'Donnell-Luria, Jennifer E Neil,Joseph G Gleeson,Christopher A Walsh,Fowzan S Alkuraya,Lama AlAbdi, Nour Elkhateeb,Laila Selim,Siddharth Srivastava, Danny D Nedialkova,Laurence Drouard,Christophe Romier,Efil Bayam,Juliette D Godin
Brain a journal of neurology (2025)
Cited0Views0WOSBibtex
0
0
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data from the National Brain Gene Registry
Nora C Callahan, Sonal Mahida,Abigail Sveden, Meg Quinn,Maya Chopra,Siddharth Srivastava, Brain Gene Registry Consortium
Clinical genetics (2025)
Cited0Views0WOSBibtex
0
0
Approach to Diagnosis and Management of Genetic Neurodevelopmental Disorders
Alisa Mo, Michael Oanea,Julie S. Cohen,Lance Rodan,Siddharth Srivastava
Capute and Accardo' s Neurodevelopmental Disabilities in Infancy and Childhoodpp.487-507, (2025)
Cited0Views0Bibtex
0
0
Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy
Imen Alkuraya, Alexandra Santana Almansa, Azubuike Eleonu,Paul Avillach,Annapurna Poduri,Siddharth Srivastava
medRxiv the preprint server for health sciences (2025)
Cited0Views0WOSBibtex
0
0
Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault,Sreelata Nair, Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642
Cited1Views0WOSBibtex
1
0
Load More
Author Statistics

#Papers: 156

#Citation: 2367

H-Index: 24

G-Index: 46

Sociability: 8

Diversity: 3

Activity: 48

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn