Irini Manoli

Affiliations

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

Publications (17)

Comparison of Three-Dimensional Surface Imaging Systems Using Landmark Analysis.

The Journal of craniofacial surgery

Avec: Denise K Liberton , Rashmi Mishra , Margaret Beach , Armin Raznahan , William A Gahl , Janice S Lee

The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report.

BMC cancer

Avec: John G Aversa , Francine Blumental De Abreu , Sho Yano , Liqiang Xi , Donald W Hadley , Mark Raffeld , Samira M Sadowski , Naris Nilubol

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Journal of inherited metabolic disease

Avec: Abigael Gebremariam , Samantha McCoy , Alexandra R Pass , Jack Gagné , Camryn Hall , Susan Ferry , Carol Van Ryzin , Jennifer L Sloan , Elisa Sacchetti , Giulio Catesini , Cristiano Rizzo , Diego Martinelli , Marco Spada , Carlo Dionisi-Vici , Charles P Venditti

Inability to move one's face dampens facial expression perception.

Cortex; a journal devoted to the study of the nervous system and behavior

Avec: Shruti Japee , Jessica Jordan , Judith Licht , Savannah Lokey , Auteur inconnu , Gang Chen , Joseph Snow , Ethylin Wang Jabs , Bryn D Webb , Elizabeth C Engle , Chris Baker , Leslie G Ungerleider

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Molecular psychiatry

Avec: Oleg A Shchelochkov , Cristan A Farmer , Colby Chlebowski , Dee Adedipe , Susan Ferry , Alexandra Pass , Samantha McCoy , Carol Van Ryzin , Jennifer Sloan , Audrey Thurm , Charles P Venditti

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Brain communications

Avec: Neda Sadeghi , Elizabeth Hutchinson , Carol Van Ryzin , Edmond J FitzGibbon , John A Butman , Bryn D Webb , Flavia Facio , Brian P Brooks , Francis S Collins , Ethylin Wang Jabs , Elizabeth C Engle , Carlo Pierpaoli , Auteur inconnu

High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

JIMD reports

Avec: Tomoyasu Higashimoto , Alexander Y Kim , Jessica T Ogawa , Jennifer L Sloan , Mohammed A Almuqbil , Julia M Carlson , Charles P Venditti , Meral Gunay-Aygun , Tao Wang

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

American journal of medical genetics. Part A

Avec: Hilary J Vernon ,

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.

JCI insight

Avec: Justin R Sysol , PamelaSara E Head , Madeline W Epping , Oksana Gavrilova , Melissa K Crocker , Jennifer L Sloan , Stefanos A Koutsoukos , Cindy X Wang , Yiouli P Ktena , Sophia Mendelson , Alexandra R Pass , Patricia M Zerfas , Victoria J Hoffmann , Hilary J Vernon , Laura A Fletcher , James C Reynolds , Maria G Tsokos , Constantine A Stratakis , Stephan D Voss , Kong Y Chen , Rebecca J Brown , Ada Hamosh , Gerard T Berry , Xiaoyuan Chen , Jack A Yanovski , Charles P Venditti

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.

International journal of environmental research and public health

Avec: Denise K Liberton , Konstantinia Almpani , Rashmi Mishra , Carol Bassim , Carol Van Ryzin , On Behalf Of The Moebius Syndrome Research Consortium , Bryn D Webb , Ethylin Wang Jabs , Elizabeth C Engle , Francis S Collins , Janice S Lee

Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.

Blood

Avec: Jeffrey I Cohen , Kennichi Dowdell , Tammy A Krogmann , Deborah Tamura , Pierce Radecki , Wei Bu , Siu-Ping Turk , Kelly Liepshutz , Ronald L Hornung , Hiva Fassihi , Robert P Sarkany , Lori L Bonnycastle , Peter S Chines , Amy J Swift , Timothy G Myers , Melissa A Levoska , John J DiGiovanna , Francis S Collins , Kenneth H Kraemer , Stefania Pittaluga , Elaine S Jaffe

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

Avec: Alexandra R Pass , Elizabeth A Harrington , Jennifer L Sloan , Jack Gagné , Samantha McCoy , Sarah L Bell , Jacob D Hattenbach , Brooks P Leitner , Courtney J Duckworth , Laura A Fletcher , Thomas M Cassimatis , Carolina I Galarreta , Audrey Thurm , Joseph Snow , Carol Van Ryzin , Susan Ferry , Nicholas Ah Mew , Oleg A Shchelochkov , Kong Y Chen , Charles P Venditti

Severity modeling of propionic acidemia using clinical and laboratory biomarkers.

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

Avec: Oleg A Shchelochkov , Paul Juneau , Jennifer L Sloan , Susan Ferry , Jennifer Myles , Megan Schoenfeld , Alexandra Pass , Samantha McCoy , Carol Van Ryzin , Olivia Wenger , Mark Levin , Wadih Zein , Laryssa Huryn , Joseph Snow , Colby Chlebowski , Audrey Thurm , Jeffrey B Kopp , Kong Y Chen , Charles P Venditti

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.

Science translational medicine

Avec: PamelaSara E Head , Sangho Myung , Yong Chen , Jessica L Schneller , Cindy Wang , Nicholas Duncan , Pauline Hoffman , David Chang , Abigael Gebremariam , Marjan Gucek , Charles P Venditti

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

Journal of inherited metabolic disease

Avec: Carolina Montano , Thomas Cassini , Shira G Ziegler , Manfred Boehm , Elena-Raluca Nicoli , Joseph A Mindell , Ariane G Soldatos , Lynne Wolfe , Ellen F Macnamara , May Christine V Malicdan , David R Adams , Cynthia J Tifft , Camilo Toro , William A Gahl

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Human genetics

Avec: Mary C Whitman , Brenda J Barry , Caroline D Robson , Flavia M Facio , Carol Van Ryzin , Wai-Man Chan , Tanya J Lehky , Audrey Thurm , Christopher Zalewski , Kelly A King , Carmen Brewer , Konstantinia Almpani , Janice S Lee , Angela Delaney , Edmond J FitzGibbon , Paul R Lee , Camilo Toro , Scott M Paul , Omar A Abdul-Rahman , Bryn D Webb , Ethylin Wang Jabs , Hans Ulrik Moller , Dorte Ancher Larsen , Jayne H Antony , Christopher Troedson , Alan Ma , Glad Ragnhild , Katrine V Wirgenes , Emma Tham , Malin Kvarnung , Timothy James Maarup , Sarah MacKinnon , David G Hunter , Francis S Collins , Elizabeth C Engle

ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia.

Molecular therapy. Methods & clinical development

Avec: Petr O Ilyinskii , Alicia M Michaud , Gina L Rizzo , Christopher J Roy , Sheldon S Leung , Stephanie L Elkins , Teresa Capela , Aparajita Chowdhury , Lina Li , Randy J Chandler , Eva Andres-Mateos , Lloyd P M Johnston , Luk H Vandenberghe , Charles P Venditti , Takashi Kei Kishimoto

Réseau de co-auteurs

Charles P Venditti 8 collaborations

Carol Van Ryzin 7 collaborations

Jennifer L Sloan 5 collaborations

Samantha McCoy 4 collaborations

Susan Ferry 4 collaborations

Ethylin Wang Jabs 4 collaborations

Bryn D Webb 4 collaborations

Elizabeth C Engle 4 collaborations

Audrey Thurm 4 collaborations

Francis S Collins 4 collaborations

Janice S Lee 3 collaborations

Alexandra R Pass 3 collaborations

Joseph Snow 3 collaborations

Oleg A Shchelochkov 3 collaborations

Kong Y Chen 3 collaborations

Denise K Liberton 2 collaborations

Rashmi Mishra 2 collaborations

William A Gahl 2 collaborations

Abigael Gebremariam 2 collaborations

Jack Gagné 2 collaborations

None None 2 collaborations

Colby Chlebowski 2 collaborations

Alexandra Pass 2 collaborations

Edmond J FitzGibbon 2 collaborations

Hilary J Vernon 2 collaborations

PamelaSara E Head 2 collaborations

Laura A Fletcher 2 collaborations

Konstantinia Almpani 2 collaborations

Camilo Toro 2 collaborations

Margaret Beach 1 collaboration

Armin Raznahan 1 collaboration

John G Aversa 1 collaboration

Francine Blumental De Abreu 1 collaboration

Sho Yano 1 collaboration

Liqiang Xi 1 collaboration

Donald W Hadley 1 collaboration

Mark Raffeld 1 collaboration

Samira M Sadowski 1 collaboration

Naris Nilubol 1 collaboration

Camryn Hall 1 collaboration

Elisa Sacchetti 1 collaboration

Giulio Catesini 1 collaboration

Cristiano Rizzo 1 collaboration

Diego Martinelli 1 collaboration

Marco Spada 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Shruti Japee 1 collaboration

Jessica Jordan 1 collaboration

Judith Licht 1 collaboration

Savannah Lokey 1 collaboration

Gang Chen 1 collaboration

Chris Baker 1 collaboration

Leslie G Ungerleider 1 collaboration

Cristan A Farmer 1 collaboration

Dee Adedipe 1 collaboration

Jennifer Sloan 1 collaboration

Neda Sadeghi 1 collaboration

Elizabeth Hutchinson 1 collaboration

John A Butman 1 collaboration

Flavia Facio 1 collaboration

Brian P Brooks 1 collaboration

Carlo Pierpaoli 1 collaboration

Tomoyasu Higashimoto 1 collaboration

Alexander Y Kim 1 collaboration

Jessica T Ogawa 1 collaboration

Mohammed A Almuqbil 1 collaboration

Julia M Carlson 1 collaboration

Meral Gunay-Aygun 1 collaboration

Tao Wang 1 collaboration

Justin R Sysol 1 collaboration

Madeline W Epping 1 collaboration

Oksana Gavrilova 1 collaboration

Melissa K Crocker 1 collaboration

Stefanos A Koutsoukos 1 collaboration

Cindy X Wang 1 collaboration

Yiouli P Ktena 1 collaboration

Sophia Mendelson 1 collaboration

Patricia M Zerfas 1 collaboration

Victoria J Hoffmann 1 collaboration

James C Reynolds 1 collaboration

Maria G Tsokos 1 collaboration

Constantine A Stratakis 1 collaboration

Stephan D Voss 1 collaboration

Rebecca J Brown 1 collaboration

Ada Hamosh 1 collaboration

Gerard T Berry 1 collaboration

Xiaoyuan Chen 1 collaboration

Jack A Yanovski 1 collaboration

Carol Bassim 1 collaboration

None On Behalf Of The Moebius Syndrome Research Consortium 1 collaboration

Jeffrey I Cohen 1 collaboration

Kennichi Dowdell 1 collaboration

Tammy A Krogmann 1 collaboration

Deborah Tamura 1 collaboration

Pierce Radecki 1 collaboration

Wei Bu 1 collaboration

Siu-Ping Turk 1 collaboration

Kelly Liepshutz 1 collaboration

Ronald L Hornung 1 collaboration

Hiva Fassihi 1 collaboration

Robert P Sarkany 1 collaboration

Lori L Bonnycastle 1 collaboration

Peter S Chines 1 collaboration

Amy J Swift 1 collaboration

Timothy G Myers 1 collaboration

Melissa A Levoska 1 collaboration

John J DiGiovanna 1 collaboration

Kenneth H Kraemer 1 collaboration

Stefania Pittaluga 1 collaboration

Elaine S Jaffe 1 collaboration

Elizabeth A Harrington 1 collaboration

Sarah L Bell 1 collaboration

Jacob D Hattenbach 1 collaboration

Brooks P Leitner 1 collaboration

Courtney J Duckworth 1 collaboration

Thomas M Cassimatis 1 collaboration

Carolina I Galarreta 1 collaboration

Nicholas Ah Mew 1 collaboration

Paul Juneau 1 collaboration

Jennifer Myles 1 collaboration

Megan Schoenfeld 1 collaboration

Olivia Wenger 1 collaboration

Mark Levin 1 collaboration

Wadih Zein 1 collaboration

Laryssa Huryn 1 collaboration

Jeffrey B Kopp 1 collaboration

Sangho Myung 1 collaboration

Yong Chen 1 collaboration

Jessica L Schneller 1 collaboration

Cindy Wang 1 collaboration

Nicholas Duncan 1 collaboration

Pauline Hoffman 1 collaboration

David Chang 1 collaboration

Marjan Gucek 1 collaboration

Carolina Montano 1 collaboration

Thomas Cassini 1 collaboration

Shira G Ziegler 1 collaboration

Manfred Boehm 1 collaboration

Elena-Raluca Nicoli 1 collaboration

Joseph A Mindell 1 collaboration

Ariane G Soldatos 1 collaboration

Lynne Wolfe 1 collaboration

Ellen F Macnamara 1 collaboration

May Christine V Malicdan 1 collaboration

David R Adams 1 collaboration

Cynthia J Tifft 1 collaboration

Mary C Whitman 1 collaboration

Brenda J Barry 1 collaboration

Caroline D Robson 1 collaboration

Flavia M Facio 1 collaboration

Wai-Man Chan 1 collaboration

Tanya J Lehky 1 collaboration

Christopher Zalewski 1 collaboration

Kelly A King 1 collaboration

Carmen Brewer 1 collaboration

Angela Delaney 1 collaboration

Paul R Lee 1 collaboration

Scott M Paul 1 collaboration

Omar A Abdul-Rahman 1 collaboration

Hans Ulrik Moller 1 collaboration

Dorte Ancher Larsen 1 collaboration

Jayne H Antony 1 collaboration

Christopher Troedson 1 collaboration

Alan Ma 1 collaboration

Glad Ragnhild 1 collaboration

Katrine V Wirgenes 1 collaboration

Emma Tham 1 collaboration

Malin Kvarnung 1 collaboration

Timothy James Maarup 1 collaboration

Sarah MacKinnon 1 collaboration

David G Hunter 1 collaboration

Petr O Ilyinskii 1 collaboration

Alicia M Michaud 1 collaboration

Gina L Rizzo 1 collaboration

Christopher J Roy 1 collaboration

Sheldon S Leung 1 collaboration

Stephanie L Elkins 1 collaboration

Teresa Capela 1 collaboration

Aparajita Chowdhury 1 collaboration

Lina Li 1 collaboration

Randy J Chandler 1 collaboration

Eva Andres-Mateos 1 collaboration

Lloyd P M Johnston 1 collaboration

Luk H Vandenberghe 1 collaboration

Takashi Kei Kishimoto 1 collaboration