SiddharthSrivastavaMD

PubMed

• Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
  Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W Frazier, Mustafa Sahin, Andrew Dhawan, Siddharth Srivastava, Sumit Parikh, Gary E Hsich, Neil R Fri...> ;Annals of Clinical and Translational Neurology. 2024 Mar 19
• Characteristics and use of patient-reported outcomes of clinical trials for high-risk neurological medical devices that received FDA premarket approval from 2001 to 2022.
  Ryan, M., Wan, L., Yang, G., Zhang, B., Srivastava, S.> ;Contemporary Clinical Trials Communications. 2024 Feb 1
• Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
  Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Erica R Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M Helm, Helen Firth, A...> ;HGG Advances. 2024 Apr 11
• Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
  Morison, L., Kennis, M., Rots, D., Bouman, A., Kummeling, J., Palmer, E., Vogel, A., Liegeois, F., Brignell, A., Srivastava, S., Frazier, Z., Milnes, D., Goel, H., Amo...> ;Journal of Medical Genetics. 2024 Jan 30
• Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
  Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew Wheeler, Chloe Reuter, Siddharth Srivastava, Jacqueline Harris, Paul G Fisher, Sanj...> ;Europace. 2023 Dec 28
• Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
  Alexandra Santana Almansa, Dustin L Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra, Sara A Lewis, Michael Kruer, Annapurna Poduri, Siddharth Srivastava> ;Annals of Clinical and Translational Neurology. 2024 Feb 1
• Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
  Anna L Slingerland, Dylan S Keusch, Laura L Lehman, Edward R Smith, Siddharth Srivastava, Alfred P See> ;Child's Nervous System. 2024 Mar 1
• Heterozygous loss-of-functionvariants are associated with variable and incompletely penetrant growth and developmental features.
  Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Erica R Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M Helm, Helen Firth, A...> ;Medrxiv. 2023 Sep 28
• 4 citations
  CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
  Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Za...> ;European Journal of Human Genetics. 2023 Nov 1
• 5 citations
  Updated consensus guidelines on the management of Phelan-McDermid syndrome.
  Siddharth Srivastava, Mustafa Sahin, Joseph D Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A Bernstein, Afua Asante-Otoo, William...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 1 citations
  Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
  Kelly K Barry, Marilyn G Liang, Daniel M Balkin, Siddharth Srivastava, Alanna J Church, Whitney Eng> ;Pediatric Dermatology. 2023 Jul 24
• 1 citations
  BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
  Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde...> ;European Journal of Human Genetics. 2023 Sep 1
• 2 citations
  Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
  Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zi...> ;Human Genetics. 2023 Jul 1
• 3 citations
  Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
  Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cro...> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• 1 citations
  POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
  Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L Dentici, Marco Tartaglia, Marcello ...> ;Clinical Genetics. 2023 Aug 1
• 1 citations
  Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
  Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A Lakhani, Weizhen Ji, Laurie Steiner, J...> ;Genetics in Medicine. 2023 Aug 1
• 9 citations
  SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
  Agrawal, P. B., Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Got...> ;Brain. 2023 Apr 19
• 2 citations
  Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
  Robyn M Busch, Thomas W Frazier Ii, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava, Antonio Y Hardan, Julian A Martinez-Agosto, Charis Eng, Sahin...> ;Journal of Neurodevelopmental Disorders. 2023 Jan 14
• 9 citations
  Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
  Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K Fink, Linsley Smith, Jennifer...> ;Movement Disorders. 2022 Dec 1
• 15 citations
  Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
  Siddharth Srivastava, Sara A Lewis, Julie S Cohen, Bo Zhang, Bhooma R Aravamuthan, Maya Chopra, Michael C Kruer, Annapurna Poduri, Sahin, M.> ;JAMA Neurology. 2022 Dec 1
• 5 citations
  A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
  Srivastava, S., Jo, B., Zhang, B., Frazier, T., Gallagher, A., Peck, F., Levin, A., Mondal, S., Li, Z., Filip-Dhima, R., Geisel, G., Dies, K., Diplock, A., Eng, C., Ha...> ;Human Molecular Genetics. 2022 Oct 10
• 11 citations
  Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
  Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, J...> ;Genetics in Medicine. 2022 Nov 1
• 2 citations
  On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability".
  Audrey Thurm, Siddharth Srivastava> ;American Journal on Intellectual and Developmental Disabilities. 2022 Sep 1
• Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
  Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H Rodan, David R Thorburn, John Christodoulou, S...> ;JIMD Reports. 2022 Sep 1
• 1 citations
  Underrepresentation of the term cerebral palsy in clinical genetics databases.
  Siddharth Srivastava, Sara A Lewis, Michael C Kruer, Annapurna Poduri> ;American Journal of Medical Genetics. Part A. 2022 Dec 1
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