Siddharth Srivastava

Harvard Medical School

H指数:30

被引数:3,924

个人简介

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Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

GNAO1相关疾病中的纵向表型轨迹：定义疾病进展和临床特征

Annals of Neurology

IF7.7

2026-04-170

OAAI

Jana Domínguez-Carral MD; Ana María Domínguez Cobo MD; Sol Balsells MSc; Anna Aguilar-Ros BS; Chu-Ting Chang MSc; William G. Ludlam PhD; Kathryn Yang MD; Katerina Bernardi MD; Micaela Chinigioli MD; Ainara Salazar-Villacorta MD; Veronica Di Pisa MD; Nuria Lamagrande-Casanova MD; Elena González-Alguacil MD; Beatriz De la Casa-Fages MD, PhD; Akihisa Okumura MD; Josefina Rodríguez MD; Ayush Agarwal MD; Daniela Muñoz-Chesta MD; Carolina Reynoso-Osnayo MD; Amy Lin MD; Brahim Tabarki MD; Jobaida Parvin MD; Adolfo Alberto Gallo MD; Andreia Forno MD; Fabian Maass MD; Johnny Montiel Blanco MD; Salomé Nasif MD; Elizabeth Jennions MD; Jorge Luis Ramón-Gómez MD; Helene Verhelst MD, PhD; Juan José Nieto Barceló MD; Dunja Čokolić Petrović MD; Luz Victoria García Ruiz MD; Christoph van Riesen MD; Paulo Rego Sousa MD; Maria del Pilar Massaro Sanchez MD; Husnea Ara Khan MD; Wejdan Hakami MD; Jennifer Friedman MD; Iván Espinoza-Quinteros MD; Monica Troncoso MD; Divyani Garg MD; Micaela Pauni MD; Hirokazu Kurahashi MD; María Concepción Miranda-Herrero MD, PhD; Anna Duat-Rodriguez MD; Luca Soliani MD; Manju A. Kurian MD, PhD; Angeles Schteinschnaider MD; Siddharth Srivastava MD; Darius Ebrahimi-Fakhari MD, PhD; Kirill A. Martemyanov PhD; Juan Darío Ortigoza-Escobar MD, PhD

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications

IF15.7

2025-11-260

Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger

Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome

PTEN错构瘤综合征的神经发育和神经病学表现

NEUROLOGY-GENETICS

IF3.7

2025-10-010

PRE

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

COL4A2基因双等位基因变异与脑小血管病及脑畸形相关

Clinical Genetics

IF2.3

2025-08-130

OAAI

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109

Brain

IF11.7

2025-03-220

OAAI

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

Further delineation of the SCAF4-associated neurodevelopmental disorder

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-12-120

OAAI

Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane

Motor phenotypes associated with genetic neurodevelopmental disorders

与遗传性神经发育障碍相关的运动表型

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-11-020

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay

MOLECULAR PSYCHIATRY

IF10.1

2024-10-290

PRE

Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

ANNALS OF NEUROLOGY

IF7.7

2024-09-251

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-08-014

PRE

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Cerebral Palsy Phenotypes in Genetic Epilepsies

PEDIATRIC NEUROLOGY

IF2.1

2024-08-010

PRE

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-011

OAAI

Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.

AI-Driven Spectral Decomposition: Predicting the Most Probable Protein Compositions from Surface Enhanced Raman Spectroscopy Spectra of Amino Acids

BIOENGINEERING-BASEL

IF3.7

2024-05-120

OAAI

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Phelan-McDermid综合征癫痫发作的临床、遗传和认知相关性

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2024-05-100

OAAI

The Brain Gene Registry: a data snapshot

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2024-04-170

OAAI

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-04-012

OAAI

Ansari, Morad; Faour, Kamli N. W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J. L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stuhn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayioti; Bujakowksa, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tuettelmann, Frank; Conrad, Donald F.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Fitzpatrick, David R.; Boone, Philip M.

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-03-196

OAAI

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

扩展Kleefstra综合征的表型: 103个体的言语，语言和认知

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-01-306