Annette Feigenbaum

Affiliations

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Publications (19)

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Avec: Karen Paik , Matthew A Lines , Pranesh Chakraborty , Sara D Khangura , Maureen Latocki , Walla Al-Hertani , Catherine Brunel-Guitton , Aneal Khan , Blaine Penny , Cheryl Rockman-Greenberg , C Anthony Rupar , Neal Sondheimer , Mark Tarnopolsky , Kylie Tingley , Doug Coyle , Sarah Dyack , Annette Feigenbaum , Michael T Geraghty , Jane Gillis , Clara D M van Karnebeek , Jonathan B Kronick , Julian Little , Murray Potter , Komudi Siriwardena , Rebecca Sparkes , Lesley A Turner , Kumanan Wilson , Daniela Buhas , Beth K Potter , Auteur inconnu

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

JIMD reports

Avec: Bernd C Schwahn , Thomas Scheffner , Hedwig Stepman , Peter Verloo , Anibh M Das , Janice Fletcher , Henk J Blom , Jean-Francois Benoist , Bruce A Barshop , Jaime J Barea , Annette Feigenbaum

Outcomes of patients with cobalamin C deficiency: A single center experience.

JIMD reports

Avec: Danielle K Bourque , Lizbeth E Mellin-Sanchez , Garrett Bullivant , Vivian Cruz , Anette Feigenbaum , Stacy Hewson , Julian Raiman , Andreas Schulze , Komudi Siriwardena , Saadet Mercimek-Andrews

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature communications

Avec: Mallory J Owen , Sebastien Lefebvre , Christian Hansen , Chris M Kunard , David P Dimmock , Laurie D Smith , Gunter Scharer , Rebecca Mardach , Mary J Willis , Annette Feigenbaum , Anna-Kaisa Niemi , Yan Ding , Luca Van Der Kraan , Katarzyna Ellsworth , Lucia Guidugli , Bryan R Lajoie , Timothy K McPhail , Shyamal S Mehtalia , Kevin K Chau , Yong H Kwon , Zhanyang Zhu , Sergey Batalov , Shimul Chowdhury , Seema Rego , James Perry , Mark Speziale , Mark Nespeca , Meredith S Wright , Martin G Reese , Francisco M De La Vega , Joe Azure , Erwin Frise , Charlene Son Rigby , Sandy White , Charlotte A Hobbs , Sheldon Gilmer , Gail Knight , Albert Oriol , Jerica Lenberg , Shareef A Nahas , Kate Perofsky , Kyu Kim , Jeanne Carroll , Nicole G Coufal , Erica Sanford , Kristen Wigby , Jacqueline Weir , Vicki S Thomson , Louise Fraser , Seka S Lazare , Yoon H Shin , Haiying Grunenwald , Richard Lee , David Jones , Duke Tran , Andrew Gross , Patrick Daigle , Anne Case , Marisa Lue , James A Richardson , John Reynders , Thomas Defay , Kevin P Hall , Narayanan Veeraraghavan , Stephen F Kingsmore

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.

Cold Spring Harbor molecular case studies

Avec: Stephen F Kingsmore , Nanda Ramchandar , Kiely James , Anna-Kaisa Niemi , Annette Feigenbaum , Yan Ding , Wendy Benson , Charlotte Hobbs , Shareef Nahas , Shimul Chowdhury , David Dimmock

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.

Molecular genetics and metabolism reports

Avec: Yue Huang , Rajesh Sharma , Annette Feigenbaum , Chung Lee , Inderneel Sahai , Rossana Sanchez Russo , Juanita Neira , Susan Sklower Brooks , Kelly E Jackson , Derek Wong , Stephen Cederbaum , Felicitas L Lacbawan , Charles M Rowland , Pranoot Tanpaiboon , Denise Salazar

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

Molecular genetics and metabolism

Avec: Susan Waisbren , Barbara K Burton , Annette Feigenbaum , Laura L Konczal , Joshua Lilienstein , Shawn E McCandless , Richard Rowell , Amarilis Sanchez-Valle , Kaleigh B Whitehall , Nicola Longo

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.

Molecular genetics and metabolism

Avec: May Flowers , Alexa Dickson , Marcus J Miller , Elaine Spector , Gregory Mark Enns , Heather Baudet , Marzia Pasquali , Lemuel Racacho , Kianoush Sadre-Bazzaz , Ting Wen , Melissa Fogarty , Raquel Fernandez , Meredith A Weaver , Annette Feigenbaum , Brett H Graham , Rong Mao

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Molecular genetics and metabolism

Avec: Federica Conte , Eva Morava , Nurulamin Abu Bakar , Saskia B Wortmann , Anne Jonge Poerink , Stephanie Grunewald , Ellen Crushell , Lihadh Al-Gazali , Maaike C de Vries , Lars Mørkrid , Jozef Hertecant , Katja S Brocke Holmefjord , David Kronn , Annette Feigenbaum , Ralph Fingerhut , Sunnie Y Wong , Monique van Scherpenzeel , Nicol C Voermans , Dirk J Lefeber

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Molecular genetics and metabolism

Avec: George A Diaz , Andreas Schulze , Nicola Longo , William Rhead , Annette Feigenbaum , Derek Wong , J Lawrence Merritt , William Berquist , Renata C Gallagher , Dennis Bartholomew , Shawn E McCandless , Wendy E Smith , Cary O Harding , Roberto Zori , Uta Lichter-Konecki , Jerry Vockley , Colleen Canavan , Thomas Vescio , Robert J Holt , Susan A Berry

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Orphanet journal of rare diseases

Avec: Kylie Tingley , Monica Lamoureux , Michael Pugliese , Michael T Geraghty , Jonathan B Kronick , Beth K Potter , Doug Coyle , Kumanan Wilson , Michael Kowalski , Valerie Austin , Catherine Brunel-Guitton , Daniela Buhas , Alicia K J Chan , Sarah Dyack , Annette Feigenbaum , Alette Giezen , Sharan Goobie , Cheryl R Greenberg , Shailly Jain Ghai , Michal Inbar-Feigenberg , Natalya Karp , Mariya Kozenko , Erica Langley , Matthew Lines , Julian Little , Jennifer MacKenzie , Bruno Maranda , Saadet Mercimek-Andrews , Connie Mohan , Aizeddin Mhanni , Grant Mitchell , John J Mitchell , Laura Nagy , Melanie Napier , Amy Pender , Murray Potter , Chitra Prasad , Suzanne Ratko , Ramona Salvarinova , Andreas Schulze , Komudi Siriwardena , Neal Sondheimer , Rebecca Sparkes , Sylvia Stockler-Ipsiroglu , Yannis Trakadis , Lesley Turner , Clara Van Karnebeek , Hilary Vallance , Anthony Vandersteen , Jagdeep Walia , Ashley Wilson , Brenda J Wilson , Andrea C Yu , Nataliya Yuskiv , Pranesh Chakraborty , Auteur inconnu

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

Cold Spring Harbor molecular case studies

Avec: Mallory J Owen , Jerica Lenberg , Annette Feigenbaum , Jeffrey Gold , Kevin Chau , Zaira Bezares-Orin , Yan Ding , Shimul Chowdhury , Stephen F Kingsmore

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American journal of human genetics

Avec: Stephen F Kingsmore , Laurie D Smith , Chris M Kunard , Matthew Bainbridge , Sergey Batalov , Wendy Benson , Eric Blincow , Sara Caylor , Christina Chambers , Guillermo Del Angel , David P Dimmock , Yan Ding , Katarzyna Ellsworth , Annette Feigenbaum , Erwin Frise , Robert C Green , Lucia Guidugli , Kevin P Hall , Christian Hansen , Charlotte A Hobbs , Scott D Kahn , Mark Kiel , Lucita Van Der Kraan , Chad Krilow , Yong H Kwon , Lakshminarasimha Madhavrao , Jennie Le , Sebastien Lefebvre , Rebecca Mardach , William R Mowrey , Danny Oh , Mallory J Owen , George Powley , Gunter Scharer , Seth Shelnutt , Mari Tokita , Shyamal S Mehtalia , Albert Oriol , Stavros Papadopoulos , James Perry , Edwin Rosales , Erica Sanford , Steve Schwartz , Duke Tran , Martin G Reese , Meredith Wright , Narayanan Veeraraghavan , Kristen Wigby , Mary J Willis , Aaron R Wolen , Thomas Defay

Characterization of a novel exonic deletion in the

Molecular genetics and metabolism reports

Avec: Kathryn DeLong , Annette Feigenbaum , Laura Pollard , Andrew Lay , Timothy Wood

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.

Molecular genetics and metabolism reports

Avec: Annette Feigenbaum

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

Molecular genetics and metabolism

Avec: Jennifer L McGlaughon , Marzia Pasquali , Kathleen Wallace , Justyne Ross , Ozlem Senol-Cosar , Wei Shen , Meredith A Weaver , Annette Feigenbaum , Elaine Lyon , Gregory M Enns , Rong Mao , Heather G Baudet

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Orphanet journal of rare diseases

Avec: Maria D Karaceper , Sara D Khangura , Kumanan Wilson , Doug Coyle , Marni Brownell , Christine Davies , Linda Dodds , Annette Feigenbaum , Deshayne B Fell , Scott D Grosse , Astrid Guttmann , Steven Hawken , Robin Z Hayeems , Jonathan B Kronick , Anne-Marie Laberge , Julian Little , Aizeddin Mhanni , John J Mitchell , Meranda Nakhla , Murray Potter , Chitra Prasad , Cheryl Rockman-Greenberg , Rebecca Sparkes , Sylvia Stockler , Keiko Ueda , Hilary Vallance , Brenda J Wilson , Pranesh Chakraborty , Beth K Potter , Auteur inconnu

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

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

Avec: Zoheb B Kazi , Ankit K Desai , R Bradley Troxler , David Kronn , Seymour Packman , Marta Sabbadini , William B Rizzo , Katalin Scherer , Omar Abdul-Rahman , Pranoot Tanpaiboon , Sheela Nampoothiri , Neerja Gupta , Annette Feigenbaum , Dmitriy M Niyazov , Langston Sherry , Reeval Segel , Alison McVie-Wylie , Crystal Sung , Alexandra M Joseph , Susan Richards , Priya S Kishnani

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.

Molecular genetics and metabolism reports

Avec: Annette Feigenbaum , Leah Lamale-Smith , Lawrence Weinstein

Réseau de co-auteurs

Yan Ding 4 collaborations

Stephen F Kingsmore 4 collaborations

Pranesh Chakraborty 3 collaborations

Doug Coyle 3 collaborations

Jonathan B Kronick 3 collaborations

Julian Little 3 collaborations

Murray Potter 3 collaborations

Komudi Siriwardena 3 collaborations

Rebecca Sparkes 3 collaborations

Kumanan Wilson 3 collaborations

Beth K Potter 3 collaborations

None None 3 collaborations

Andreas Schulze 3 collaborations

Mallory J Owen 3 collaborations

Shimul Chowdhury 3 collaborations

Sara D Khangura 2 collaborations

Catherine Brunel-Guitton 2 collaborations

Cheryl Rockman-Greenberg 2 collaborations

Neal Sondheimer 2 collaborations

Kylie Tingley 2 collaborations

Sarah Dyack 2 collaborations

Michael T Geraghty 2 collaborations

Daniela Buhas 2 collaborations

Saadet Mercimek-Andrews 2 collaborations

Sebastien Lefebvre 2 collaborations

Christian Hansen 2 collaborations

Chris M Kunard 2 collaborations

David P Dimmock 2 collaborations

Laurie D Smith 2 collaborations

Gunter Scharer 2 collaborations

Rebecca Mardach 2 collaborations

Mary J Willis 2 collaborations

Anna-Kaisa Niemi 2 collaborations

Katarzyna Ellsworth 2 collaborations

Lucia Guidugli 2 collaborations

Shyamal S Mehtalia 2 collaborations

Yong H Kwon 2 collaborations

Sergey Batalov 2 collaborations

James Perry 2 collaborations

Martin G Reese 2 collaborations

Erwin Frise 2 collaborations

Charlotte A Hobbs 2 collaborations

Albert Oriol 2 collaborations

Jerica Lenberg 2 collaborations

Erica Sanford 2 collaborations

Kristen Wigby 2 collaborations

Duke Tran 2 collaborations

Thomas Defay 2 collaborations

Kevin P Hall 2 collaborations

Narayanan Veeraraghavan 2 collaborations

Wendy Benson 2 collaborations

Derek Wong 2 collaborations

Pranoot Tanpaiboon 2 collaborations

Shawn E McCandless 2 collaborations

Nicola Longo 2 collaborations

Marzia Pasquali 2 collaborations

Meredith A Weaver 2 collaborations

Rong Mao 2 collaborations

David Kronn 2 collaborations

Aizeddin Mhanni 2 collaborations

John J Mitchell 2 collaborations

Chitra Prasad 2 collaborations

Hilary Vallance 2 collaborations

Brenda J Wilson 2 collaborations

Karen Paik 1 collaboration

Matthew A Lines 1 collaboration

Maureen Latocki 1 collaboration

Walla Al-Hertani 1 collaboration

Aneal Khan 1 collaboration

Blaine Penny 1 collaboration

C Anthony Rupar 1 collaboration

Mark Tarnopolsky 1 collaboration

Jane Gillis 1 collaboration

Clara D M van Karnebeek 1 collaboration

Lesley A Turner 1 collaboration

Bernd C Schwahn 1 collaboration

Thomas Scheffner 1 collaboration

Hedwig Stepman 1 collaboration

Peter Verloo 1 collaboration

Anibh M Das 1 collaboration

Janice Fletcher 1 collaboration

Henk J Blom 1 collaboration

Jean-Francois Benoist 1 collaboration

Bruce A Barshop 1 collaboration

Jaime J Barea 1 collaboration

Danielle K Bourque 1 collaboration

Lizbeth E Mellin-Sanchez 1 collaboration

Garrett Bullivant 1 collaboration

Vivian Cruz 1 collaboration

Anette Feigenbaum 1 collaboration

Stacy Hewson 1 collaboration

Julian Raiman 1 collaboration

Luca Van Der Kraan 1 collaboration

Bryan R Lajoie 1 collaboration

Timothy K McPhail 1 collaboration

Kevin K Chau 1 collaboration

Zhanyang Zhu 1 collaboration

Seema Rego 1 collaboration

Mark Speziale 1 collaboration

Mark Nespeca 1 collaboration

Meredith S Wright 1 collaboration

Francisco M De La Vega 1 collaboration

Joe Azure 1 collaboration

Charlene Son Rigby 1 collaboration

Sandy White 1 collaboration

Sheldon Gilmer 1 collaboration

Gail Knight 1 collaboration

Shareef A Nahas 1 collaboration

Kate Perofsky 1 collaboration

Kyu Kim 1 collaboration

Jeanne Carroll 1 collaboration

Nicole G Coufal 1 collaboration

Jacqueline Weir 1 collaboration

Vicki S Thomson 1 collaboration

Louise Fraser 1 collaboration

Seka S Lazare 1 collaboration

Yoon H Shin 1 collaboration

Haiying Grunenwald 1 collaboration

Richard Lee 1 collaboration

David Jones 1 collaboration

Andrew Gross 1 collaboration

Patrick Daigle 1 collaboration

Anne Case 1 collaboration

Marisa Lue 1 collaboration

James A Richardson 1 collaboration

John Reynders 1 collaboration

Nanda Ramchandar 1 collaboration

Kiely James 1 collaboration

Charlotte Hobbs 1 collaboration

Shareef Nahas 1 collaboration

David Dimmock 1 collaboration

Yue Huang 1 collaboration

Rajesh Sharma 1 collaboration

Chung Lee 1 collaboration

Inderneel Sahai 1 collaboration

Rossana Sanchez Russo 1 collaboration

Juanita Neira 1 collaboration

Susan Sklower Brooks 1 collaboration

Kelly E Jackson 1 collaboration

Stephen Cederbaum 1 collaboration

Felicitas L Lacbawan 1 collaboration

Charles M Rowland 1 collaboration

Denise Salazar 1 collaboration

Susan Waisbren 1 collaboration

Barbara K Burton 1 collaboration

Laura L Konczal 1 collaboration

Joshua Lilienstein 1 collaboration

Richard Rowell 1 collaboration

Amarilis Sanchez-Valle 1 collaboration

Kaleigh B Whitehall 1 collaboration

May Flowers 1 collaboration

Alexa Dickson 1 collaboration

Marcus J Miller 1 collaboration

Elaine Spector 1 collaboration

Gregory Mark Enns 1 collaboration

Heather Baudet 1 collaboration

Lemuel Racacho 1 collaboration

Kianoush Sadre-Bazzaz 1 collaboration

Ting Wen 1 collaboration

Melissa Fogarty 1 collaboration

Raquel Fernandez 1 collaboration

Brett H Graham 1 collaboration

Federica Conte 1 collaboration

Eva Morava 1 collaboration

Nurulamin Abu Bakar 1 collaboration

Saskia B Wortmann 1 collaboration

Anne Jonge Poerink 1 collaboration

Stephanie Grunewald 1 collaboration

Ellen Crushell 1 collaboration

Lihadh Al-Gazali 1 collaboration

Maaike C de Vries 1 collaboration

Lars Mørkrid 1 collaboration

Jozef Hertecant 1 collaboration

Katja S Brocke Holmefjord 1 collaboration

Ralph Fingerhut 1 collaboration

Sunnie Y Wong 1 collaboration

Monique van Scherpenzeel 1 collaboration

Nicol C Voermans 1 collaboration

Dirk J Lefeber 1 collaboration

George A Diaz 1 collaboration

William Rhead 1 collaboration

J Lawrence Merritt 1 collaboration

William Berquist 1 collaboration

Renata C Gallagher 1 collaboration

Dennis Bartholomew 1 collaboration

Wendy E Smith 1 collaboration

Cary O Harding 1 collaboration

Roberto Zori 1 collaboration

Uta Lichter-Konecki 1 collaboration

Jerry Vockley 1 collaboration

Colleen Canavan 1 collaboration

Thomas Vescio 1 collaboration

Robert J Holt 1 collaboration

Susan A Berry 1 collaboration

Monica Lamoureux 1 collaboration

Michael Pugliese 1 collaboration

Michael Kowalski 1 collaboration

Valerie Austin 1 collaboration

Alicia K J Chan 1 collaboration

Alette Giezen 1 collaboration

Sharan Goobie 1 collaboration

Cheryl R Greenberg 1 collaboration

Shailly Jain Ghai 1 collaboration

Michal Inbar-Feigenberg 1 collaboration

Natalya Karp 1 collaboration

Mariya Kozenko 1 collaboration

Erica Langley 1 collaboration

Matthew Lines 1 collaboration

Jennifer MacKenzie 1 collaboration

Bruno Maranda 1 collaboration

Connie Mohan 1 collaboration

Grant Mitchell 1 collaboration

Laura Nagy 1 collaboration

Melanie Napier 1 collaboration

Amy Pender 1 collaboration

Suzanne Ratko 1 collaboration

Ramona Salvarinova 1 collaboration

Sylvia Stockler-Ipsiroglu 1 collaboration

Yannis Trakadis 1 collaboration

Lesley Turner 1 collaboration

Clara Van Karnebeek 1 collaboration

Anthony Vandersteen 1 collaboration

Jagdeep Walia 1 collaboration

Ashley Wilson 1 collaboration

Andrea C Yu 1 collaboration

Nataliya Yuskiv 1 collaboration

Jeffrey Gold 1 collaboration

Kevin Chau 1 collaboration

Zaira Bezares-Orin 1 collaboration

Matthew Bainbridge 1 collaboration

Eric Blincow 1 collaboration

Sara Caylor 1 collaboration

Christina Chambers 1 collaboration

Guillermo Del Angel 1 collaboration

Robert C Green 1 collaboration

Scott D Kahn 1 collaboration

Mark Kiel 1 collaboration

Lucita Van Der Kraan 1 collaboration

Chad Krilow 1 collaboration

Lakshminarasimha Madhavrao 1 collaboration

Jennie Le 1 collaboration

William R Mowrey 1 collaboration

Danny Oh 1 collaboration

George Powley 1 collaboration

Seth Shelnutt 1 collaboration

Mari Tokita 1 collaboration

Stavros Papadopoulos 1 collaboration

Edwin Rosales 1 collaboration

Steve Schwartz 1 collaboration

Meredith Wright 1 collaboration

Aaron R Wolen 1 collaboration

Kathryn DeLong 1 collaboration

Laura Pollard 1 collaboration

Andrew Lay 1 collaboration

Timothy Wood 1 collaboration

Jennifer L McGlaughon 1 collaboration

Kathleen Wallace 1 collaboration

Justyne Ross 1 collaboration

Ozlem Senol-Cosar 1 collaboration

Wei Shen 1 collaboration

Elaine Lyon 1 collaboration

Gregory M Enns 1 collaboration

Heather G Baudet 1 collaboration

Maria D Karaceper 1 collaboration

Marni Brownell 1 collaboration

Christine Davies 1 collaboration

Linda Dodds 1 collaboration

Deshayne B Fell 1 collaboration

Scott D Grosse 1 collaboration

Astrid Guttmann 1 collaboration

Steven Hawken 1 collaboration

Robin Z Hayeems 1 collaboration

Anne-Marie Laberge 1 collaboration

Meranda Nakhla 1 collaboration

Sylvia Stockler 1 collaboration

Keiko Ueda 1 collaboration

Zoheb B Kazi 1 collaboration

Ankit K Desai 1 collaboration

R Bradley Troxler 1 collaboration

Seymour Packman 1 collaboration

Marta Sabbadini 1 collaboration

William B Rizzo 1 collaboration

Katalin Scherer 1 collaboration

Omar Abdul-Rahman 1 collaboration

Sheela Nampoothiri 1 collaboration

Neerja Gupta 1 collaboration

Dmitriy M Niyazov 1 collaboration

Langston Sherry 1 collaboration

Reeval Segel 1 collaboration

Alison McVie-Wylie 1 collaboration

Crystal Sung 1 collaboration

Alexandra M Joseph 1 collaboration

Susan Richards 1 collaboration

Priya S Kishnani 1 collaboration

Leah Lamale-Smith 1 collaboration

Lawrence Weinstein 1 collaboration