E Martina Bebin

Affiliations
  • Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama. Electronic address: ebebin@uab.edu.

Publications (50)

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex.

Pediatric neurology
Avec: Leslie E Grayson , Jurriaan M Peters , Tarrant McPherson , Darcy A Krueger , Mustafa Sahin , Joyce Y Wu , Hope A Northrup , Brenda Porter , Gary R Cutter , Sarah E O'Kelley , Jessica Krefting , Scellig S Stone , Joseph R Madsen , Aria Fallah , Jeffrey P Blount , Howard L Weiner , Auteur inconnu

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder.

Journal of neurodevelopmental disorders
Avec: Anna K Prohl , Benoit Scherrer , Xavier Tomas-Fernandez , Peter E Davis , Rajna Filip-Dhima , Sanjay P Prabhu , Jurriaan M Peters , Darcy A Krueger , Hope Northrup , Joyce Y Wu , Mustafa Sahin , Simon K Warfield , Auteur inconnu

Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy.

Clinical pharmacology and therapeutics
Avec: Brittney H Davis , T Mark Beasley , Michelle Amaral , Jerzy P Szaflarski , Tyler Gaston , Leslie Perry Grayson , David G Standaert , Nita A Limdi , Auteur inconnu

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex.

Journal of autism and developmental disorders
Avec: Ian A Cook , Andrew C Wilson , Jurriaan M Peters , Monisha N Goyal , Hope Northrup , Darcy Krueger , Andrew F Leuchter , Mustafa Sahin , Auteur inconnu

Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.

Annals of neurology
Avec: Alexander L Cohen , Brechtje P F Mulder , Anna K Prohl , Louis Soussand , Peter Davis , Mallory R Kroeck , Peter McManus , Ali Gholipour , Benoit Scherrer , Joyce Y Wu , Hope Northrup , Darcy A Krueger , Mustafa Sahin , Simon K Warfield , Michael D Fox , Jurriaan M Peters , Auteur inconnu

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

medRxiv : the preprint server for health sciences
Avec: Susan M Hiatt , James Mj Lawlor , Lori H Handley , Donald R Latner , Zachary T Bonnstetter , Candice R Finnila , Michelle L Thompson , Lori Beth Boston , Melissa Williams , Ivan Rodriguez Nunez , Jerry Jenkins , Whitley V Kelley , Michael A Lopez , Anna Ce Hurst , Bruce R Korf , Jeremy Schmutz , Jane Grimwood , Gregory M Cooper

Long-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program.

Epilepsia open
Avec: Arie Weinstock , Daniel Checketts , Gary D Clark , Jerzy P Szaflarski , Laurie E Seltzer , Elizabeth A Thiele , Farhad Sahebkar

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.

Pediatric neurology
Avec: Laura S Farach , Melissa A Richard , Aynara C Wulsin , Elizabeth M Bebin , Darcy A Krueger , Mustafa Sahin , Brenda E Porter , Tarrant O McPherson , Jurriaan M Peters , Sarah O'Kelley , Katherine S Taub , Rajsekar Rajaraman , Stephanie C Randle , William M McClintock , Mary Kay Koenig , Michael D Frost , Klaus Werner , Danielle A Nolan , Michael Wong , Gary Cutter , Hope Northrup , Kit Sing Au , Auteur inconnu

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Pediatric neurology
Avec: Hannah Lewis , Debopam Samanta , Jenny-Li Örsell , Katherine A Bosanko , Amy Rowell , Melissa Jones , Russell C Dale , Sasidharan Taravath , Cecil D Hahn , Deepa Krishnakumar , Sarah Chagnon , Stephanie Keller , Eveline Hagebeuk , Sheel Pathak , Daniel H Arndt , John J Alexander , Gayatra Mainali , Giangennaro Coppola , Jane Maclean , Steven Sparagana , Nancy McNamara , Douglas M Smith , Víctor Raggio , Marcos Cruz , Alberto Fernández-Jaén , Maina P Kava , Lisa Emrick , Jennifer L Fish , Adeline Vanderver , Guy Helman , Tyler M Pierson , Yuri A Zarate

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

European journal of human genetics : EJHG
Avec: Theodore G Drivas , Dong Li , Divya Nair , Joseph T Alaimo , Mariëlle Alders , Janine Altmüller , Tahsin Stefan Barakat , Nicole L Bertsch , Patrick R Blackburn , Alyssa Blesson , Arjan M Bouman , Knut Brockmann , Perrine Brunelle , Margit Burmeister , Gregory M Cooper , Jonas Denecke , Anne Dieux-Coëslier , Holly Dubbs , Alejandro Ferrer , Danna Gal , Lauren E Bartik , Lauren B Gunderson , Linda Hasadsri , Mahim Jain , Catherine Karimov , Beth Keena , Eric W Klee , Katja Kloth , Baiba Lace , Marina Macchiaiolo , Julien L Marcadier , Jeff M Milunsky , Melanie P Napier , Xilma R Ortiz-Gonzalez , Pavel N Pichurin , Jason Pinner , Zoe Powis , Chitra Prasad , Francesca Clementina Radio , Kristen J Rasmussen , Deborah L Renaud , Eric T Rush , Carol Saunders , Duygu Selcen , Ann R Seman , Deepali N Shinde , Erica D Smith , Thomas Smol , Lot Snijders Blok , Joan M Stoler , Sha Tang , Marco Tartaglia , Michelle L Thompson , Jiddeke M van de Kamp , Jingmin Wang , Dagmar Weise , Karin Weiss , Rixa Woitschach , Bernd Wollnik , Huifang Yan , Elaine H Zackai , Giuseppe Zampino , Philippe Campeau , Elizabeth Bhoj

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

American journal of human genetics
Avec: Susan M Hiatt , Michelle L Thompson , Jeremy W Prokop , James M J Lawlor , David E Gray , Tuula Rinne , Marlies Kempers , Rolph Pfundt , Bregje W van Bon , Cyril Mignot , Caroline Nava , Christel Depienne , Louisa Kalsner , Anita Rauch , Pascal Joset , Ruxandra Bachmann-Gagescu , Ingrid M Wentzensen , Kirsty McWalter , Gregory M Cooper

Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.

Epilepsy research
Avec: Linda C Laux , Daniel Checketts , Michael Chez , Robert Flamini , Eric D Marsh , Ian Miller , Kathryn Nichol , Yong Park , Eric Segal , Laurie Seltzer , Jerzy P Szaflarski , Elizabeth A Thiele , Arie Weinstock , Auteur inconnu

Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.

Epilepsia
Avec: Elizabeth A Thiele , Francis Filloux , Patrick Kwan , Rachael Loftus , Farhad Sahebkar , Steven Sparagana , James Wheless

White matter integrity after cannabidiol administration for treatment resistant epilepsy.

Epilepsy research
Avec: J T Houston , R Nenert , J B Allendorfer , E M Bebin , T E Gaston , A M Goodman , J P Szaflarski

Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.

Pediatric neurology
Avec: Alexis Levine , Peter Davis , Bo Zhang , Jurriaan Peters , Rajna Filip-Dhima , Simon K Warfield , Anna Prohl , Jamie Capal , Darcy Krueger , Hope Northrup , Joyce Y Wu , Mustafa Sahin , Auteur inconnu

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Stephanie A Felker , James M J Lawlor , Susan M Hiatt , Michelle L Thompson , Donald R Latner , Candice R Finnila , Kevin M Bowling , Zachary T Bonnstetter , Katherine E Bonini , Nicole R Kelly , Whitley V Kelley , Anna C E Hurst , Salman Rashid , Melissa A Kelly , Ghunwa Nakouzi , Laura G Hendon , Eimear E Kenny , Gregory M Cooper

Drug-drug interactions with cannabidiol (CBD) appear to have no effect on treatment response in an open-label Expanded Access Program.

Epilepsy & behavior : E&B
Avec: Tyler E Gaston , Gary R Cutter , Steve B Ampah , Yuliang Liu , Leslie P Grayson , Jerzy P Szaflarski , Auteur inconnu

Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.

The American psychologist
Avec: Marian E Williams , Deborah A Pearson , Jamie K Capal , Anna W Byars , Donna S Murray , Robin Kissinger , Sarah E O'Kelley , Ellen Hanson , Nicole M Bing , Bridget Kent , Joyce Y Wu , Hope Northrup , Mustafa Sahin , Darcy Krueger , Auteur inconnu

Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
Avec: Banu Ahtam , Mathieu Dehaes , Danielle D Sliva , Jurriaan M Peters , Darcy A Krueger , Elizabeth Martina Bebin , Hope Northrup , Joyce Y Wu , Simon K Warfield , Mustafa Sahin , Patricia Ellen Grant , Auteur inconnu

Higher cannabidiol plasma levels are associated with better seizure response following treatment with a pharmaceutical grade cannabidiol.

Epilepsy & behavior : E&B
Avec: Jerzy P Szaflarski , Kathleen Hernando , Tyler E Gaston , Leslie E Grayson , Steve B Ampah , Randall Moreadith

Cannabidiol normalizes resting-state functional connectivity in treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Rodolphe Nenert , Jane B Allendorfer , Tyler E Gaston , Leslie E Grayson , James T Houston , Jerzy P Szaflarski

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.

Pediatric neurology
Avec: Laura S Farach , Melissa A Richard , Philip J Lupo , Mustafa Sahin , Darcy A Krueger , Joyce Y Wu , Elizabeth M Bebin , Kit Sing Au , Hope Northrup , Auteur inconnu

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

American journal of medical genetics. Part A
Avec: Melissa A Richard , Philip J Lupo , Erik A Ehli , Mustafa Sahin , Darcy A Krueger , Joyce Y Wu , Elizabeth M Bebin , Kit Sing Au , Hope Northrup , Laura S Farach , Auteur inconnu

Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment-resistant epilepsies in the Expanded Access Program.

Epilepsia
Avec: Robert J Flamini , Anne M Comi , Michael G Chez , Gary Clark , Orrin Devinsky , Shaun A Hussain , Paul D Lyons , Anup D Patel , Jillian L Rosengard , Farhad Sahebkar , Eric Segal , Laurie Seltzer , Jerzy P Szaflarski , Arie Weinstock

fMRI study of cannabidiol-induced changes in attention control in treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Jane B Allendorfer , Rodolphe Nenert , Tyler E Gaston , Leslie E Grayson , Kathleen A Hernando , James T Houston , Barbara Hansen , Jerzy P Szaflarski

Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study.

Frontiers in integrative neuroscience
Avec: Anna K Prohl , Benoit Scherrer , Xavier Tomas-Fernandez , Rajna Filip-Dhima , Kush Kapur , Clemente Velasco-Annis , Sean Clancy , Erin Carmody , Meghan Dean , Molly Valle , Sanjay P Prabhu , Jurriaan M Peters , Darcy A Krueger , Hope Northrup , Joyce Y Wu , Mustafa Sahin , Simon K Warfield

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.

Epilepsia
Avec: Joyce Y Wu , Monisha Goyal , Jurriaan M Peters , Darcy Krueger , Mustafa Sahin , Hope Northrup , Kit S Au , Sarah O'Kelley , Marian Williams , Deborah A Pearson , Ellen Hanson , Anna W Byars , Jessica Krefting , Mark Beasley , Gary Cutter , Nita Limdi ,

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Pediatric neurology
Avec: Laura S Farach , Deborah A Pearson , John P Woodhouse , Jeremy M Schraw , Mustafa Sahin , Darcy A Krueger , Joyce Y Wu , Elizabeth M Bebin , Philip J Lupo , Kit Sing Au , Hope Northrup , Auteur inconnu

Effects of highly purified cannabidiol (CBD) on fMRI of working memory in treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Tyler E Gaston , Jane B Allendorfer , Sangeeta Nair , Leslie P Grayson , Roy C Martin , Jerzy P Szaflarski , Auteur inconnu

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

American journal of human genetics
Avec: Norine Voisin , Rhonda E Schnur , Sofia Douzgou , Susan M Hiatt , Cecilie F Rustad , Natasha J Brown , Dawn L Earl , Boris Keren , Olga Levchenko , Sinje Geuer , Sarah Verheyen , Diana Johnson , Yuri A Zarate , Miroslava Hančárová , David J Amor , Jasmin Blatterer , Alfredo Brusco , Gerarda Cappuccio , Joel Charrow , Nicolas Chatron , Gregory M Cooper , Thomas Courtin , Elena Dadali , Julien Delafontaine , Ennio Del Giudice , Martine Doco , Ganka Douglas , Astrid Eisenkölbl , Tara Funari , Giuliana Giannuzzi , Ursula Gruber-Sedlmayr , Nicolas Guex , Delphine Heron , Øystein L Holla , Anna C E Hurst , Jane Juusola , David Kronn , Alexander Lavrov , Crystle Lee , Séverine Lorrain , Else Merckoll , Anna Mikhaleva , Jennifer Norman , Sylvain Pradervand , Darina Prchalová , Lindsay Rhodes , Victoria R Sanders , Zdeněk Sedláček , Heidelis A Seebacher , Elizabeth A Sellars , Fabio Sirchia , Toshiki Takenouchi , Akemi J Tanaka , Heidi Taska-Tench , Elin Tønne , Kristian Tveten , Giuseppina Vitiello , Markéta Vlčková , Tomoko Uehara , Caroline Nava , Binnaz Yalcin , Kenjiro Kosaki , Dian Donnai , Stefan Mundlos , Nicola Brunetti-Pierri , Wendy K Chung , Alexandre Reymond

Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.

Pediatric neurology
Avec: S Katie Z Ihnen , Jamie K Capal , Paul S Horn , Molly Griffith , Mustafa Sahin , Joyce Y Wu , Hope Northrup , Darcy A Krueger , Auteur inconnu

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.

Annals of neurology
Avec: Alexander L Cohen , Mallory R Kroeck , Juliana Wall , Peter McManus , Arina Ovchinnikova , Mustafa Sahin , Darcy A Krueger , Hope Northrup , Joyce Y Wu , Simon K Warfield , Jurriaan M Peters , Michael D Fox , Auteur inconnu

Final analysis of potential drug-drug interactions between highly purified cannabidiol and anti-seizure medications in an open-label expanded access program.

Epilepsia open
Avec: Tyler E Gaston , Gary R Cutter , Leslie Grayson , Jerzy P Szaflarski

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Genome research
Avec: Susan M Hiatt , James Mj Lawlor , Lori H Handley , Donald R Latner , Zachary T Bonnstetter , Candice R Finnila , Michelle L Thompson , Lori Beth Boston , Melissa Williams , Ivan Rodriguez-Nunez , Jerry Jenkins , Whitley V Kelley , Michael A Lopez , Anna Ce Hurst , Bruce R Korf , Jeremy Schmutz , Jane Grimwood , Gregory M Cooper

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Nature communications
Avec: Jana Willim , Daniel Woike , Daniel Greene , Sarada Das , Kevin Pfeifer , Weimin Yuan , Anika Lindsey , Omar Itani , Amber L Böhme , Debora Tibbe , Hans-Hinrich Hönck , Fatemeh Hassani Nia , Auteur inconnu , Michael Zech , Theresa Brunet , Laurence Faivre , Arthur Sorlin , Antonio Vitobello , Thomas Smol , Cindy Colson , Kristin Baranano , Krista Schatz , Allan Bayat , Kelly Schoch , Rebecca Spillmann , Erica E Davis , Erin Conboy , Francesco Vetrini , Konrad Platzer , Sonja Neuser , Janina Gburek-Augustat , Alexandra Noel Grace , Bailey Mitchell , Alexander Stegmann , Margje Sinnema , Naomi Meeks , Carol Saunders , Maxime Cadieux-Dion , Juliane Hoyer , Julien Van-Gils , Jean-Madeleine de Sainte-Agathe , Michelle L Thompson , Monika Weisz-Hubshman , Anne-Claude Tabet , Alain Verloes , Jonathan Levy , Xenia Latypova , Sönke Harder , Gary A Silverman , Stephen C Pak , Tim Schedl , Kathleen Freson , Andrew Mumford , Ernest Turro , Christian Schlein , Vandana Shashi , Hans-Jürgen Kreienkamp

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.

Epilepsia
Avec: S Katie Z Ihnen , Samuel Alperin , Jamie K Capal , Alexander L Cohen , Jurriaan M Peters , Hope A Northrup , Mustafa Sahin , Darcy A Krueger , Auteur inconnu

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.

HGG advances
Avec: Susan M Hiatt , James M J Lawlor , Lori H Handley , Ryne C Ramaker , Brianne B Rogers , E Christopher Partridge , Lori Beth Boston , Melissa Williams , Christopher B Plott , Jerry Jenkins , David E Gray , James M Holt , Kevin M Bowling , Jane Grimwood , Jeremy Schmutz , Gregory M Cooper

A state-based approach to genomics for rare disease and population screening.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kelly M East , Whitley V Kelley , Ashley Cannon , Meagan E Cochran , Irene P Moss , Thomas May , Mariko Nakano-Okuno , Stephen O Sodeke , Jeffrey C Edberg , James J Cimino , Mona Fouad , William A Curry , Anna C E Hurst , Kevin M Bowling , Michelle L Thompson , Robert D Johnson , Auteur inconnu , Gregory M Cooper , Matthew Might , Gregory S Barsh , Bruce R Korf

Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.

JAMA neurology
Avec: Elizabeth A Thiele , Hari Bhathal , Floor E Jansen , Katarzyna Kotulska , John A Lawson , Finbar J O'Callaghan , Michael Wong , Farhad Sahebkar , Daniel Checketts , Volker Knappertz , Auteur inconnu

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.

Epilepsia
Avec: Peter E Davis , Kush Kapur , Rajna Filip-Dhima , Sara K Trowbridge , Elaina Little , Andrew Wilson , Andrew Leuchter , Elizabeth M Bebin , Darcy Krueger , Hope Northrup , Joyce Y Wu , Mustafa Sahin , Jurriaan M Peters , Auteur inconnu

Cognitive functioning following long-term cannabidiol use in adults with treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Roy C Martin , Tyler E Gaston , Matthew Thompson , Steve B Ampah , Gary Cutter , Jerzy P Szaflarski

Quality of life in adults enrolled in an open-label study of cannabidiol (CBD) for treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Tyler E Gaston , Magdalena Szaflarski , Barbara Hansen , Jerzy P Szaflarski , Auteur inconnu

Cognitive function and adaptive skills after a one-year trial of cannabidiol (CBD) in a pediatric sample with treatment-resistant epilepsy.

Epilepsy & behavior : E&B
Avec: Matthew D Thompson , Roy C Martin , Leslie P Grayson , Steve B Ampah , Gary Cutter , Jerzy P Szaflarski ,

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Pediatric neurology
Avec: Hope Northrup , Mary E Aronow , John Bissler , Thomas N Darling , Petrus J de Vries , Michael D Frost , Zoë Fuchs , Elizabeth S Gosnell , Nishant Gupta , Anna C Jansen , Sergiusz Jóźwiak , J Chris Kingswood , Timothy K Knilans , Francis X McCormack , Ashley Pounders , Steven L Roberds , David F Rodriguez-Buritica , Jonathan Roth , Julian R Sampson , Steven Sparagana , Elizabeth Anne Thiele , Howard L Weiner , James W Wheless , Alexander J Towbin , Darcy A Krueger , Auteur inconnu

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.

Proceedings of the National Academy of Sciences of the United States of America
Avec: Jian Zhou , Hamdan Hamdan , Hari Krishna Yalamanchili , Kaifang Pang , Amy E Pohodich , Joanna Lopez , Yingyao Shao , Juan A Oses-Prieto , Lifang Li , Wonho Kim , Mark A Durham , Sameer S Bajikar , Donna J Palmer , Philip Ng , Michelle L Thompson , Amelie J Müller , Alma Kuechler , Antje Kampmeier , Tobias B Haack , Alma L Burlingame , Zhandong Liu , Matthew N Rasband , Huda Y Zoghbi

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jet van der Spek , Joery den Hoed , Lot Snijders Blok , Alexander J M Dingemans , Dick Schijven , Christoffer Nellaker , Hanka Venselaar , Galuh D N Astuti , Tahsin Stefan Barakat , Stefanie Beck-Wödl , Gea Beunders , Natasha J Brown , Theresa Brunet , Han G Brunner , Philippe M Campeau , Goran Čuturilo , Christian Gilissen , Tobias B Haack , Irina Hüning , Ralf A Husain , Benjamin Kamien , Sze Chern Lim , Luca Lovrecic , Janine Magg , Ales Maver , Valancy Miranda , Danielle C Monteil , Charlotte W Ockeloen , Lynn S Pais , Vasilica Plaiasu , Laura Raiti , Christopher Richmond , Angelika Rieß , Eva M C Schwaibold , Marleen E H Simon , Stephanie Spranger , Tiong Yang Tan , Michelle L Thompson , Bert B A de Vries , Ella J Wilkins , Marjolein H Willemsen , Clyde Francks , Lisenka E L M Vissers , Simon E Fisher , Tjitske Kleefstra

Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
Avec: Maaike Nijman , Edward Yang , Camilo Jaimes , Anna K Prohl , Mustafa Sahin , Darcy A Krueger , Joyce Y Wu , Hope Northrup , Scellig S D Stone , Joseph R Madsen , Aria Fallah , Jeffrey P Blount , Howard L Weiner , Leslie Grayson , Brenda E Porter , Simon K Warfield , Sanjay P Prabhu , Jurriaan M Peters , Auteur inconnu

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

bioRxiv : the preprint server for biology
Avec: Stephanie A Felker , James Mj Lawlor , Susan M Hiatt , Michelle L Thompson , Donald R Latner , Candice R Finnila , Kevin M Bowling , Zachary T Bonnstetter , Katherine E Bonini , Nicole R Kelly , Whitley V Kelley , Anna Ce Hurst , Melissa A Kelly , Ghunwa Nakouzi , Laura G Hendon , Eimear E Kenny , Gregory M Cooper

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.

Annals of neurology
Avec: Elizabeth Martina Bebin , Jurriaan M Peters , Brenda E Porter , Tarrant O McPherson , Sarah O'Kelley , Mustafa Sahin , Katherine S Taub , Rajsekar Rajaraman , Stephanie C Randle , William M McClintock , Mary Kay Koenig , Mike D Frost , Hope A Northrup , Klaus Werner , Danielle A Nolan , Michael Wong , Jessica L Krefting , Fred Biasini , Kalyani Peri , Gary Cutter , Darcy A Krueger , Auteur inconnu

Réseau de co-auteurs

None None 28 collaborations
Mustafa Sahin 19 collaborations
Hope Northrup 17 collaborations
Darcy A Krueger 15 collaborations
Joyce Y Wu 15 collaborations
Jurriaan M Peters 13 collaborations
Jerzy P Szaflarski 13 collaborations
Michelle L Thompson 11 collaborations
Gregory M Cooper 9 collaborations
Tyler E Gaston 8 collaborations
Simon K Warfield 7 collaborations
Susan M Hiatt 7 collaborations
Darcy Krueger 5 collaborations
Whitley V Kelley 5 collaborations
Elizabeth M Bebin 5 collaborations
Gary Cutter 5 collaborations
Leslie E Grayson 4 collaborations
Anna K Prohl 4 collaborations
Rajna Filip-Dhima 4 collaborations
Donald R Latner 4 collaborations
Zachary T Bonnstetter 4 collaborations
Candice R Finnila 4 collaborations
Elizabeth A Thiele 4 collaborations
Farhad Sahebkar 4 collaborations
Laura S Farach 4 collaborations
Kit Sing Au 4 collaborations
Kevin M Bowling 4 collaborations
Steve B Ampah 4 collaborations
Hope A Northrup 3 collaborations
Gary R Cutter 3 collaborations
Howard L Weiner 3 collaborations
Benoit Scherrer 3 collaborations
Sanjay P Prabhu 3 collaborations
Alexander L Cohen 3 collaborations
James Mj Lawlor 3 collaborations
Lori H Handley 3 collaborations
Lori Beth Boston 3 collaborations
Melissa Williams 3 collaborations
Jerry Jenkins 3 collaborations
Anna Ce Hurst 3 collaborations
Bruce R Korf 3 collaborations
Jeremy Schmutz 3 collaborations
Jane Grimwood 3 collaborations
Arie Weinstock 3 collaborations
Daniel Checketts 3 collaborations
Melissa A Richard 3 collaborations
Brenda E Porter 3 collaborations
Sarah O'Kelley 3 collaborations
Michael Wong 3 collaborations
Steven Sparagana 3 collaborations
James M J Lawlor 3 collaborations
Anna C E Hurst 3 collaborations
Leslie P Grayson 3 collaborations
Deborah A Pearson 3 collaborations
Jamie K Capal 3 collaborations
Jane B Allendorfer 3 collaborations
Philip J Lupo 3 collaborations
Roy C Martin 3 collaborations
Sarah E O'Kelley 2 collaborations
Jessica Krefting 2 collaborations
Joseph R Madsen 2 collaborations
Aria Fallah 2 collaborations
Jeffrey P Blount 2 collaborations
Xavier Tomas-Fernandez 2 collaborations
Peter E Davis 2 collaborations
Peter Davis 2 collaborations
Mallory R Kroeck 2 collaborations
Peter McManus 2 collaborations
Michael D Fox 2 collaborations
Michael A Lopez 2 collaborations
Tarrant O McPherson 2 collaborations
Katherine S Taub 2 collaborations
Rajsekar Rajaraman 2 collaborations
Stephanie C Randle 2 collaborations
William M McClintock 2 collaborations
Mary Kay Koenig 2 collaborations
Michael D Frost 2 collaborations
Klaus Werner 2 collaborations
Danielle A Nolan 2 collaborations
Yuri A Zarate 2 collaborations
Tahsin Stefan Barakat 2 collaborations
Jonas Denecke 2 collaborations
Carol Saunders 2 collaborations
Thomas Smol 2 collaborations
Lot Snijders Blok 2 collaborations
David E Gray 2 collaborations
Rolph Pfundt 2 collaborations
Caroline Nava 2 collaborations
Eric Segal 2 collaborations
Laurie Seltzer 2 collaborations
Stephanie A Felker 2 collaborations
Katherine E Bonini 2 collaborations
Nicole R Kelly 2 collaborations
Melissa A Kelly 2 collaborations
Ghunwa Nakouzi 2 collaborations
Laura G Hendon 2 collaborations
Eimear E Kenny 2 collaborations
Anna W Byars 2 collaborations
Ellen Hanson 2 collaborations
Elizabeth Martina Bebin 2 collaborations
Rodolphe Nenert 2 collaborations
James T Houston 2 collaborations
Barbara Hansen 2 collaborations
Kush Kapur 2 collaborations
Natasha J Brown 2 collaborations
Boris Keren 2 collaborations
Gerarda Cappuccio 2 collaborations
Thomas Courtin 2 collaborations
Jane Juusola 2 collaborations
Nicola Brunetti-Pierri 2 collaborations
S Katie Z Ihnen 2 collaborations
Leslie Grayson 2 collaborations
Theresa Brunet 2 collaborations
Konrad Platzer 2 collaborations
Tjitske Kleefstra 2 collaborations
Tobias B Haack 2 collaborations
Tarrant McPherson 1 collaboration
Brenda Porter 1 collaboration
Scellig S Stone 1 collaboration
Brittney H Davis 1 collaboration
T Mark Beasley 1 collaboration
Michelle Amaral 1 collaboration
Tyler Gaston 1 collaboration
Leslie Perry Grayson 1 collaboration
David G Standaert 1 collaboration
Nita A Limdi 1 collaboration
Ian A Cook 1 collaboration
Andrew C Wilson 1 collaboration
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