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Epilepsy Genetics Program Profile
Epilepsy Genetics Program

@BCH_PoduriLab

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Multidisciplinary, translational #epilepsy #genetics clinical care and research team @BostonChildrens. Disclaimer: https://t.co/z1MUJBFDdD

Boston, MA
Joined December 2019
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
RT @BostonChildrens: Dr. Ann Poduri, a neurologist here at Boston Children’s Hospital, spoke about her epilepsy research at Fenway High Sch….
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
Clinical utility documented for 98% of infants with new genetic diagnoses, including directly informing treatment in 56% of cases. These findings point to the feasibility and utility of rapid genome sequencing implementation for new-onset epilepsies in infants.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
Genetic diagnoses were identified for 43% of infants with new-onset epilepsy through rapid whole genome sequencing, with a median time from seizure-onset to diagnosis of 37 days.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
Those additional lab members include Beth Sheidley, Julia Koh, Brandon Oby, Rozalia Valentine, Kimberly Wiltrout, and our partners in the UK, Canada, and Australia – McTague, Cross, Costain, Chau, Howell and Scheffer)! ⭐️.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
Congratulations to the IPCHiP consortium on the first Gene-STEPS publication including multiple Poduri lab members!🧬.
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thelancet.com
Our findings support the feasibility of implementation of rapid genome sequencing in the clinical care of infants with new-onset epilepsy. Longitudinal follow-up is needed to further assess the role...
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
Congratulations to Rozalia Valentine for her recent publication titled, "Disclosure and comfort during genetic counseling sessions with .LGBTQ+ patients: An updated assessment," in the Journal of Genetic Counseling.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
This posting is specifically for bilingual Spanish-speaking applicants for the Clinical Research Assistant position.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
This posting is for the Clinical Research Assistant position.
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@BCH_PoduriLab
Epilepsy Genetics Program
2 years
We are hiring 3 new Clinical Research Assistants! If you know of any recent or future graduates who are interested in the genetics of epilepsy and want to pursue a career in epilepsy genetics or a related field, please have them apply here!.
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @BCH_Innovation: In a review of 154 studies and a practice guideline, @Beth12518007 & Lacey Smith conclude that genome or exome #sequenc….
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answers.childrenshospital.org
An evidence review and guideline provide a path forward for epilepsy genetic testing when epilepsy cannot be explained.
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @alissadgama: Thank you @Spectrum for recognizing me as a rising star in autism research! And thank you to my mentors @ChrisAWalsh1 @BCH….
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @IngoHelbig: @BCH_PoduriLab’s Lacey Smith giving her Skills Workshop in variant testing in the epilepsies at #AES2022 . @DrDaniAndrade @….
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
Our team had so much fun teaching, learning, and exploring at #AES2022 in Nashville and #TARGET in Memphis!!
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
Our own Lacey Smith and colleagues have published the first practice guideline for genetic testing in the epilepsies. There are now formal recommendations that include broad-based testing for all individuals with unexplained epilepsy! Check it out here:
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @sahin_m: Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy via @JAMAN….
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
We are excited to see Dr. Sid Srivastava's meta-analysis of genetic testing for patients with CP published in JAMA Neurology (punchline: the yield is higher than you might expect).
jamanetwork.com
This systematic review and meta-analysis investigates the molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy.
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @alissadgama: Thank you @AAPneonatal! Honored to receive the Marshall Klaus Award to support my research @BCH_PoduriLab 👶🏻🧠🧬 and thank y….
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@BCH_PoduriLab
Epilepsy Genetics Program
3 years
RT @HyunyongKoh: Came back from #CNSAM, presenting posters (coincidentally) side by side with @chrismcgraw82 @BCH_PoduriLab mate in the ina….
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