Andrea Gropman

Affiliations

Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA.
Department of Neurology, George Washington University, Washington, District of Columbia, USA.

Publications (32)

Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome.

American journal of medical genetics. Part A

Avec: Debra R Counts , Christine Yu , Patricia C Lasutschinkow , Teresa Sadeghin , Carole A Samango-Sprouse

Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.

Molecular genetics and metabolism

Avec: Afrouz Anderson , Cynthia Le Mons , Constantine Stratakis , Amir Gandjbakhche

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder.

Pediatric neurology

Avec: Elizabeth Pickup , Steven A Moore , Pim Suwannarat , Christina Grant , Nicholas Ah Mew , Kuntal Sen

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Pediatric neurology

Avec: Mongkol Chanvanichtrakool , John M Schreiber , Wei-Liang Chen , John Barber , Anqing Zhang , Nicholas Ah Mew , Andreas Schulze , Greta Wilkening , Sandesh C S Nagamani , Auteur inconnu

The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis.

Mitochondrion

Avec: Martine Uittenbogaard , Christine A Brantner , ZiShui Fang , Lee-Jun Wong , Anne Chiaramello

Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

JCI insight

Avec: Xiao-Bo Liu , Jillian R Haney , Gloria Cantero , Jenna R Lambert , Marcos Otero-Garcia , Brian Truong , Inma Cobos , Stephen D Cederbaum , Gerald S Lipshutz

CNS manifestations in patients with telomere biology disorders.

Neurology. Genetics

Avec: Sonia Bhala , Ana F Best , Neelam Giri , Blanche P Alter , Maryland Pao , Eva H Baker , Sharon A Savage

Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.

American journal of medical genetics. Part A

Avec: Laura Tosi , Francie Mitchell , Grace F Porter , Leigh Ruland , Patricia C Lasutschinkow , Selena L Tran , Elmer N Rajah , Austin P Gillies , Patricia Hendrie , Rick Peret , Teresa Sadeghin , Carole A Samango-Sprouse

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurology. Genetics

Avec: Emanuele Barca , Yuelin Long , Victoria Cooley , Robert Schoenaker , Valentina Emmanuele , Salvatore DiMauro , Bruce H Cohen , Amel Karaa , Georgirene D Vladutiu , Richard Haas , Johan L K Van Hove , Fernando Scaglia , Sumit Parikh , Jirair K Bedoyan , Susanne D DeBrosse , Ralitza H Gavrilova , Russell P Saneto , Gregory M Enns , Peter W Stacpoole , Jaya Ganesh , Austin Larson , Zarazuela Zolkipli-Cunningham , Marni J Falk , Amy C Goldstein , Mark Tarnopolsky , Kathryn Camp , Danuta Krotoski , Kristin Engelstad , Xiomara Q Rosales , Joshua Kriger , Johnston Grier , Richard Buchsbaum , John L P Thompson , Michio Hirano

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study.

Frontiers in neurology

Avec: Afrouz A Anderson , Cynthia Le Mons , Constantine A Stratakis , Amir H Gandjbakhche

Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.

Neurocritical care

Avec: Kuntal Sen , Dana Harrar , Nicole Pariseau , Karis Tucker , Julia Keenan , Anqing Zhang ,

The functional impact of 1,570 individual amino acid substitutions in human OTC.

American journal of human genetics

Avec: Russell S Lo , Gareth A Cromie , Michelle Tang , Kevin Teng , Katherine Owens , Amy Sirr , J Nathan Kutz , Hiroki Morizono , Ljubica Caldovic , Nicholas Ah Mew , Aimée M Dudley

49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.

American journal of medical genetics. Part A

Avec: Carole Samango-Sprouse , Patricia C Lasutschinkow , Francie Mitchell , Grace F Porter , Patricia Hendrie , Sherida Powell , Teresa Sadeghin ,

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.

Molecular genetics and metabolism reports

Avec: Martine Uittenbogaard , Christine A Brantner , Yue Wang , Lee-Jun Wong , Anne Chiaramello

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.

Frontiers in cell and developmental biology

Avec: Martine Uittenbogaard , Kuntal Sen , Matthew Whitehead , Christine A Brantner , Yue Wang , Lee-Jun Wong , Anne Chiaramello

Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.

Pediatric neurology

Avec: Marina Eskandar , Laura Tochen , Mi Ran Shin , Bennett Lavenstein , Meira Meltzer , Kuntal Sen

Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: C A Samango-Sprouse , F R Grati , M Brooks , M P Hamzik , K Khaksari , A Gropman , A Taylor , F Malvestiti , B Grimi , R Liuti , S Milani , S Chinetti , A Trotta , C Agrati , E Repetti , K A Martin

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

American journal of medical genetics. Part A

Avec: Carole A Samango-Sprouse , Selena L Tran , Patricia C Lasutschinkow , Teresa Sadeghin , Sherida Powell , Francie L Mitchell ,

The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

American journal of medical genetics. Part A

Avec: Carole Samango-Sprouse , Patricia Lasutschinkow , Sherida Powell , Teresa Sadeghin ,

Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELAS.

Molecular omics

Avec: Haorong Li , Martine Uittenbogaard , Ryan Navarro , Mustafa Ahmed , Anne Chiaramello , Ling Hao

Neuromonitoring in Rare Disorders of Metabolism.

The Yale journal of biology and medicine

Avec: Carlos Castillo-Pinto , Kuntal Sen ,

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.

Child neurology open

Avec: Meaghan McGowan , Carlos Ferreira , Matthew Whitehead , Sudeepta K Basu , Taeun Chang ,

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Frontiers in genetics

Avec: Sophia Q Song , Robert W Benjamin , Francie Mitchell , Michaela R Brooks , Mary P Hamzik , Kira Sampson , Ritika Kommareddi , Teresa Sadeghin , Carole A Samango-Sprouse

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases.

Therapeutic innovation & regulatory science

Avec: Carla Epps , Ralph Bax , Alysha Croker , Dionna Green , Agnes V Klein , Hannah Landry , Anne Pariser , Marc Rosenman , Michiyo Sakiyama , Junko Sato , Kuntal Sen , Monique Stone , Fumi Takeuchi , Jonathan M Davis

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

Molecular genetics and metabolism reports

Avec: Jessica R C Priestley , Lisa M Pace , Kuntal Sen , Anjali Aggarwal , Cesar Augusto P F Alves , Ian M Campbell , Sanmati R Cuddapah , Nicole M Engelhardt , Marina Eskandar , Paloma C Jolín García , Ingo Helbig , Xinying Hong , Vykuntaraju K Gowda , Laina Lusk , Pamela Trapane , Varunvenkat M Srinivasan , Pim Suwannarat , Rebecca D Ganetzky

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Molecular genetics and metabolism

Avec: Martine Uittenbogaard , Hao Wang , Victor Wei Zhang , Lee-Jun Wong , Christine A Brantner , Anne Chiaramello

Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

Analytical biochemistry

Avec: Kuntal Sen , Matthew Whitehead , Carlos Castillo Pinto , Ljubica Caldovic ,

Developing a New Set of ACGME Milestones for Child Neurology Residency.

Pediatric neurology

Avec: Dara V F Albert , Nancy Bass , John Bodensteiner , Crys Draconi , Elizabeth S Duke , Marcia Felker , Timothy Lotze , Jonathan W Mink , James J Reese , Mary Spiciarich , David K Urion , Laura Edgar

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

Muscle & nerve

Avec: Tanya Lehky , Reversa Joseph , Camilo Toro , Tianxia Wu , Carol Van Ryzin , Flavia M Facio , Bryn D Webb , Ethylin W Jabs , Brenda S Barry , Elizabeth C Engle , Francis S Collins , Irini Manoli , Auteur inconnu

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Alison M Muir , Jennifer F Gardner , Richard H van Jaarsveld , Iris M de Lange , Jasper J van der Smagt , Golder N Wilson , Holly Dubbs , Ethan M Goldberg , Lia Zitano , Caleb Bupp , Jose Martinez , Myriam Srour , Andrea Accogli , Afnan Alhakeem , Meira Meltzer , Carole Brewer , Richard C Caswell , Tara Montgomery , Caoimhe McKenna , Shane McKee , Corinna Powell , Pradeep C Vasudevan , Angela F Brady , Shelagh Joss , Carolyn Tysoe , Grace Noh , Mark Tarnopolsky , Lauren Brady , Muhammad Zafar , Samantha A Schrier Vergano , Brianna Murray , Lindsey Sawyer , Bryan E Hainline , Katherine Sapp , Danielle DeMarzo , Darcy J Huismann , Ingrid M Wentzensen , Rhonda E Schnur , Kristin G Monaghan , Jane Juusola , Lindsay Rhodes , William B Dobyns , Francois Lecoquierre , Alice Goldenberg , Tilman Polster , Susanne Axer-Schaefer , Konrad Platzer , Chiara Klöckner , Trevor L Hoffman , Daniel G MacArthur , Melanie C O'Leary , Grace E VanNoy , Eleina England , Vinod C Varghese , Heather C Mefford

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

Clinical epigenetics

Avec: Richard S Lee , Sophia Q Song , Henri M Garrison-Desany , Jenny L Carey , Patricia Lasutschinkow , Andrew Zabel , Joseph Bressler , Carole Samango-Sprouse

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.

SAGE open medicine

Avec: Dragana Protic , Elizabeth Breeze , Guadalupe Mendoza , Marwa Zafarullah , Leonard Abbeduto , Randi Hagerman , Christopher Coffey , Merit Cudkowicz , Blythe Durbin-Johnson , Paul Ashwood , Elizabeth Berry-Kravis , Craig A Erickson , Robin Filipink , Lenora Lehwald , Angela Maxwell-Horn , Stephanie Morris , Amanda Palladino Bennett , Lisa Prock , Amy Talboy , Nicole Tartaglia , Jeremy Veenstra-VanderWeele , Flora Tassone

Réseau de co-auteurs

Kuntal Sen 8 collaborations

Teresa Sadeghin 6 collaborations

Martine Uittenbogaard 5 collaborations

Anne Chiaramello 5 collaborations

Patricia C Lasutschinkow 4 collaborations

Carole A Samango-Sprouse 4 collaborations

Christine A Brantner 4 collaborations

Lee-Jun Wong 4 collaborations

Nicholas Ah Mew 3 collaborations

Francie Mitchell 3 collaborations

Carole Samango-Sprouse 3 collaborations

Sherida Powell 3 collaborations

Matthew Whitehead 3 collaborations

Cynthia Le Mons 2 collaborations

Pim Suwannarat 2 collaborations

Anqing Zhang 2 collaborations

None None 2 collaborations

Grace F Porter 2 collaborations

Selena L Tran 2 collaborations

Patricia Hendrie 2 collaborations

Mark Tarnopolsky 2 collaborations

Ljubica Caldovic 2 collaborations

Yue Wang 2 collaborations

Marina Eskandar 2 collaborations

Meira Meltzer 2 collaborations

Patricia Lasutschinkow 2 collaborations

Sophia Q Song 2 collaborations

Debra R Counts 1 collaboration

Christine Yu 1 collaboration

Afrouz Anderson 1 collaboration

Constantine Stratakis 1 collaboration

Amir Gandjbakhche 1 collaboration

Elizabeth Pickup 1 collaboration

Steven A Moore 1 collaboration

Christina Grant 1 collaboration

Mongkol Chanvanichtrakool 1 collaboration

John M Schreiber 1 collaboration

Wei-Liang Chen 1 collaboration

John Barber 1 collaboration

Andreas Schulze 1 collaboration

Greta Wilkening 1 collaboration

Sandesh C S Nagamani 1 collaboration

ZiShui Fang 1 collaboration

Xiao-Bo Liu 1 collaboration

Jillian R Haney 1 collaboration

Gloria Cantero 1 collaboration

Jenna R Lambert 1 collaboration

Marcos Otero-Garcia 1 collaboration

Brian Truong 1 collaboration

Inma Cobos 1 collaboration

Stephen D Cederbaum 1 collaboration

Gerald S Lipshutz 1 collaboration

Sonia Bhala 1 collaboration

Ana F Best 1 collaboration

Neelam Giri 1 collaboration

Blanche P Alter 1 collaboration

Maryland Pao 1 collaboration

Eva H Baker 1 collaboration

Sharon A Savage 1 collaboration

Laura Tosi 1 collaboration

Leigh Ruland 1 collaboration

Elmer N Rajah 1 collaboration

Austin P Gillies 1 collaboration

Rick Peret 1 collaboration

Emanuele Barca 1 collaboration

Yuelin Long 1 collaboration

Victoria Cooley 1 collaboration

Robert Schoenaker 1 collaboration

Valentina Emmanuele 1 collaboration

Salvatore DiMauro 1 collaboration

Bruce H Cohen 1 collaboration

Amel Karaa 1 collaboration

Georgirene D Vladutiu 1 collaboration

Richard Haas 1 collaboration

Johan L K Van Hove 1 collaboration

Fernando Scaglia 1 collaboration

Sumit Parikh 1 collaboration

Jirair K Bedoyan 1 collaboration

Susanne D DeBrosse 1 collaboration

Ralitza H Gavrilova 1 collaboration

Russell P Saneto 1 collaboration

Gregory M Enns 1 collaboration

Peter W Stacpoole 1 collaboration

Jaya Ganesh 1 collaboration

Austin Larson 1 collaboration

Zarazuela Zolkipli-Cunningham 1 collaboration

Marni J Falk 1 collaboration

Amy C Goldstein 1 collaboration

Kathryn Camp 1 collaboration

Danuta Krotoski 1 collaboration

Kristin Engelstad 1 collaboration

Xiomara Q Rosales 1 collaboration

Joshua Kriger 1 collaboration

Johnston Grier 1 collaboration

Richard Buchsbaum 1 collaboration

John L P Thompson 1 collaboration

Michio Hirano 1 collaboration

Afrouz A Anderson 1 collaboration

Constantine A Stratakis 1 collaboration

Amir H Gandjbakhche 1 collaboration

Dana Harrar 1 collaboration

Nicole Pariseau 1 collaboration

Karis Tucker 1 collaboration

Julia Keenan 1 collaboration

Russell S Lo 1 collaboration

Gareth A Cromie 1 collaboration

Michelle Tang 1 collaboration

Kevin Teng 1 collaboration

Katherine Owens 1 collaboration

Amy Sirr 1 collaboration

J Nathan Kutz 1 collaboration

Hiroki Morizono 1 collaboration

Aimée M Dudley 1 collaboration

Laura Tochen 1 collaboration

Mi Ran Shin 1 collaboration

Bennett Lavenstein 1 collaboration

C A Samango-Sprouse 1 collaboration

F R Grati 1 collaboration

M Brooks 1 collaboration

M P Hamzik 1 collaboration

K Khaksari 1 collaboration

A Gropman 1 collaboration

A Taylor 1 collaboration

F Malvestiti 1 collaboration

B Grimi 1 collaboration

R Liuti 1 collaboration

S Milani 1 collaboration

S Chinetti 1 collaboration

A Trotta 1 collaboration

C Agrati 1 collaboration

E Repetti 1 collaboration

K A Martin 1 collaboration

Francie L Mitchell 1 collaboration

Haorong Li 1 collaboration

Ryan Navarro 1 collaboration

Mustafa Ahmed 1 collaboration

Ling Hao 1 collaboration

Carlos Castillo-Pinto 1 collaboration

Meaghan McGowan 1 collaboration

Carlos Ferreira 1 collaboration

Sudeepta K Basu 1 collaboration

Taeun Chang 1 collaboration

Robert W Benjamin 1 collaboration

Michaela R Brooks 1 collaboration

Mary P Hamzik 1 collaboration

Kira Sampson 1 collaboration

Ritika Kommareddi 1 collaboration

Carla Epps 1 collaboration

Ralph Bax 1 collaboration

Alysha Croker 1 collaboration

Dionna Green 1 collaboration

Agnes V Klein 1 collaboration

Hannah Landry 1 collaboration

Anne Pariser 1 collaboration

Marc Rosenman 1 collaboration

Michiyo Sakiyama 1 collaboration

Junko Sato 1 collaboration

Monique Stone 1 collaboration

Fumi Takeuchi 1 collaboration

Jonathan M Davis 1 collaboration

Jessica R C Priestley 1 collaboration

Lisa M Pace 1 collaboration

Anjali Aggarwal 1 collaboration

Cesar Augusto P F Alves 1 collaboration

Ian M Campbell 1 collaboration

Sanmati R Cuddapah 1 collaboration

Nicole M Engelhardt 1 collaboration

Paloma C Jolín García 1 collaboration

Ingo Helbig 1 collaboration

Xinying Hong 1 collaboration

Vykuntaraju K Gowda 1 collaboration

Laina Lusk 1 collaboration

Pamela Trapane 1 collaboration

Varunvenkat M Srinivasan 1 collaboration

Rebecca D Ganetzky 1 collaboration

Hao Wang 1 collaboration

Victor Wei Zhang 1 collaboration

Carlos Castillo Pinto 1 collaboration

Dara V F Albert 1 collaboration

Nancy Bass 1 collaboration

John Bodensteiner 1 collaboration

Crys Draconi 1 collaboration

Elizabeth S Duke 1 collaboration

Marcia Felker 1 collaboration

Timothy Lotze 1 collaboration

Jonathan W Mink 1 collaboration

James J Reese 1 collaboration

Mary Spiciarich 1 collaboration

David K Urion 1 collaboration

Laura Edgar 1 collaboration

Tanya Lehky 1 collaboration

Reversa Joseph 1 collaboration

Camilo Toro 1 collaboration

Tianxia Wu 1 collaboration

Carol Van Ryzin 1 collaboration

Flavia M Facio 1 collaboration

Bryn D Webb 1 collaboration

Ethylin W Jabs 1 collaboration

Brenda S Barry 1 collaboration

Elizabeth C Engle 1 collaboration

Francis S Collins 1 collaboration

Irini Manoli 1 collaboration

Alison M Muir 1 collaboration

Jennifer F Gardner 1 collaboration

Richard H van Jaarsveld 1 collaboration

Iris M de Lange 1 collaboration

Jasper J van der Smagt 1 collaboration

Golder N Wilson 1 collaboration

Holly Dubbs 1 collaboration

Ethan M Goldberg 1 collaboration

Lia Zitano 1 collaboration

Caleb Bupp 1 collaboration

Jose Martinez 1 collaboration

Myriam Srour 1 collaboration

Andrea Accogli 1 collaboration

Afnan Alhakeem 1 collaboration

Carole Brewer 1 collaboration

Richard C Caswell 1 collaboration

Tara Montgomery 1 collaboration

Caoimhe McKenna 1 collaboration

Shane McKee 1 collaboration

Corinna Powell 1 collaboration

Pradeep C Vasudevan 1 collaboration

Angela F Brady 1 collaboration

Shelagh Joss 1 collaboration

Carolyn Tysoe 1 collaboration

Grace Noh 1 collaboration

Lauren Brady 1 collaboration

Muhammad Zafar 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Brianna Murray 1 collaboration

Lindsey Sawyer 1 collaboration

Bryan E Hainline 1 collaboration

Katherine Sapp 1 collaboration

Danielle DeMarzo 1 collaboration

Darcy J Huismann 1 collaboration

Ingrid M Wentzensen 1 collaboration

Rhonda E Schnur 1 collaboration

Kristin G Monaghan 1 collaboration

Jane Juusola 1 collaboration

Lindsay Rhodes 1 collaboration

William B Dobyns 1 collaboration

Francois Lecoquierre 1 collaboration

Alice Goldenberg 1 collaboration

Tilman Polster 1 collaboration

Susanne Axer-Schaefer 1 collaboration

Konrad Platzer 1 collaboration

Chiara Klöckner 1 collaboration

Trevor L Hoffman 1 collaboration

Daniel G MacArthur 1 collaboration

Melanie C O'Leary 1 collaboration

Grace E VanNoy 1 collaboration

Eleina England 1 collaboration

Vinod C Varghese 1 collaboration

Heather C Mefford 1 collaboration

Richard S Lee 1 collaboration

Henri M Garrison-Desany 1 collaboration

Jenny L Carey 1 collaboration

Andrew Zabel 1 collaboration

Joseph Bressler 1 collaboration

Dragana Protic 1 collaboration

Elizabeth Breeze 1 collaboration

Guadalupe Mendoza 1 collaboration

Marwa Zafarullah 1 collaboration

Leonard Abbeduto 1 collaboration

Randi Hagerman 1 collaboration

Christopher Coffey 1 collaboration

Merit Cudkowicz 1 collaboration

Blythe Durbin-Johnson 1 collaboration

Paul Ashwood 1 collaboration

Elizabeth Berry-Kravis 1 collaboration

Craig A Erickson 1 collaboration

Robin Filipink 1 collaboration

Lenora Lehwald 1 collaboration

Angela Maxwell-Horn 1 collaboration

Stephanie Morris 1 collaboration

Amanda Palladino Bennett 1 collaboration

Lisa Prock 1 collaboration

Amy Talboy 1 collaboration

Nicole Tartaglia 1 collaboration

Jeremy Veenstra-VanderWeele 1 collaboration

Flora Tassone 1 collaboration