S E Waisbren

Affiliations

Department of Pediatrics, Division of Genomics and Genetics, Harvard Medical School and Boston Children's Hospital, Boston, USA.

Publications (19)

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

Journal of inherited metabolic disease

Avec: Susan E Waisbren , Arianna K Stefanatos , Teresa M Y Kok , Burcu Ozturk-Hismi

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Molecular genetics and metabolism

Avec: Didem Demirbas , Xiaoping Huang , Vikram Daesety , Susan Feenstra , Minela Haskovic , Wanshu Qi , Cynthia S Gubbels , Leah Hecht , Harvey L Levy , Susan E Waisbren , Gerard T Berry

Revising the Psychiatric Phenotype of Homocystinuria.

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

Avec: Mohamed A Almuqbil , Susan E Waisbren , Harvey L Levy , Jonathan D Picker

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

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

Avec: Casie A Genetti , Talia S Schwartz , Jill O Robinson , Grace E VanNoy , Devan Petersen , Stacey Pereira , Shawn Fayer , Hayley A Peoples , Pankaj B Agrawal , Wendi N Betting , Ingrid A Holm , Amy L McGuire , Susan E Waisbren , Timothy W Yu , Robert C Green , Alan H Beggs , Richard B Parad , Auteur inconnu

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.

JAMA pediatrics

Avec: Stacey Pereira , Hadley Stevens Smith , Leslie A Frankel , Kurt D Christensen , Rubaiya Islam , Jill Oliver Robinson , Casie A Genetti , Carrie L Blout Zawatsky , Bethany Zettler , Richard B Parad , Susan E Waisbren , Alan H Beggs , Robert C Green , Ingrid A Holm , Amy L McGuire , Auteur inconnu

Developmental Support for Infants With Genetic Disorders.

Pediatrics

Avec: Monica H Wojcik , Jane E Stewart , Susan E Waisbren , Jonathan S Litt

Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.

Journal of genetic counseling

Avec: Talia S Schwartz , Kurt D Christensen , Melissa K Uveges , Susan E Waisbren , Amy L McGuire , Stacey Pereira , Jill O Robinson , Alan H Beggs , Robert C Green , Auteur inconnu , Gloria A Bachmann , Arnold B Rabson , Ingrid A Holm

Reinstitution of pegvaliase therapy during lactation.

Molecular genetics and metabolism reports

Avec: Frances Rohr , Ann Wessel , Cary O Harding , Susan E Waisbren , Krista Viau , Amy Kritzer

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

The New England journal of medicine

Avec: Jinkuk Kim , Chunguang Hu , Christelle Moufawad El Achkar , Lauren E Black , Julie Douville , Austin Larson , Mary K Pendergast , Sara F Goldkind , Eunjung A Lee , Ashley Kuniholm , Aubrie Soucy , Jai Vaze , Nandkishore R Belur , Kristina Fredriksen , Iva Stojkovska , Alla Tsytsykova , Myriam Armant , Renata L DiDonato , Jaejoon Choi , Laura Cornelissen , Luis M Pereira , Erika F Augustine , Casie A Genetti , Kira Dies , Brenda Barton , Lucinda Williams , Benjamin D Goodlett , Bobbie L Riley , Amy Pasternak , Emily R Berry , Kelly A Pflock , Stephen Chu , Chantal Reed , Kimberly Tyndall , Pankaj B Agrawal , Alan H Beggs , P Ellen Grant , David K Urion , Richard O Snyder , Susan E Waisbren , Annapurna Poduri , Peter J Park , Al Patterson , Alessandra Biffi , Joseph R Mazzulli , Olaf Bodamer , Charles B Berde , Timothy W Yu

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet journal of rare diseases

Avec: M E Rubio-Gozalbo , M Haskovic , A M Bosch , B Burnyte , A I Coelho , D Cassiman , M L Couce , C Dawson , D Demirbas , T Derks , F Eyskens , M T Forga , S Grunewald , J Häberle , M Hochuli , A Hubert , H H Huidekoper , P Janeiro , J Kotzka , I Knerr , P Labrune , Y E Landau , J G Langendonk , D Möslinger , D Müller-Wieland , E Murphy , K Õunap , D Ramadza , I A Rivera , S Scholl-Buergi , K M Stepien , A Thijs , C Tran , R Vara , G Visser , R Vos , M de Vries , S E Waisbren , M M Welsink-Karssies , S B Wortmann , M Gautschi , E P Treacy , G T Berry

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

American journal on intellectual and developmental disabilities

Avec: Cristan A Farmer , Aaron J Kaat , Audrey Thurm , Irina Anselm , Natacha Akshoomoff , Amanda Bennett , Leandra Berry , Aleksandra Bruchey , Bruce A Barshop , Elizabeth Berry-Kravis , Simona Bianconi , Kim M Cecil , Robert J Davis , Can Ficicioglu , Forbes D Porter , Allison Wainer , Robin P Goin-Kochel , Caroline Leonczyk , Whitney Guthrie , Dwight Koeberl , Jamie Love-Nichols , Eva Mamak , Saadet Mercimek-Andrews , Rebecca P Thomas , Gail A Spiridigliozzi , Nancy Sullivan , Vernon R Sutton , Manisha D Udhnani , Susan E Waisbren , Judith S Miller

Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU.

Nutrients

Avec: Rodolfo Ramos-Álvarez , Maili Kapp , María Mercedes Rodríguez-Ruiz , Rocío Fausor , María Amor Bueno-Delgado , Kirsten Ahring , Susan E Waisbren

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.

Metabolic brain disease

Avec: Susan E Waisbren

Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States.

Nutrition (Burbank, Los Angeles County, Calif.)

Avec: Rodolfo Ramos-Álvarez , Maili Kapp , Amaya Bélanger-Quintana , María Mercedes Rodríguez-Ruiz , César Augusto Solano-Galvis , Antonio Campos Soto , Kirsten Ahring , Susan E Waisbren

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

Journal of inherited metabolic disease

Avec: Corinna Buerger , Sven F Garbade , Fabienne Dietrich Alber , Susan E Waisbren , Robert McCarter , Stefan Kölker , Peter Burgard , Auteur inconnu

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD reports

Avec: Didem Demirbas , David J Harris , Pamela H Arn , Xiaoping Huang , Susan E Waisbren , Irina Anselm , Jordan P Lerner-Ellis , Lee-Jun Wong , Harvey L Levy , Gerard T Berry

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.

Journal of inherited metabolic disease

Avec: Banu Ahtam , Susan E Waisbren , Vera Anastasoaie , Gerard T Berry , Matthew Brown , Stephanie Petrides , Onur Afacan , Sanjay P Prabhu , Donald Schomer , P Ellen Grant , Patricia E Greenstein

Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II.

Orphanet journal of rare diseases

Avec: Karen S Yee , Yanyu Wu , Magdalena Harrington , Susan E Waisbren

Transient developmental delays in infants with Duarte-2 variant galactosemia.

Molecular genetics and metabolism

Avec: Susan E Waisbren , Catherine Tran , Didem Demirbas , Cynthia S Gubbels , Margaret Hsiao , Vikram Daesety , Gerard T Berry

Réseau de co-auteurs

Susan E Waisbren 18 collaborations

Gerard T Berry 4 collaborations

Alan H Beggs 4 collaborations

None None 4 collaborations

Didem Demirbas 3 collaborations

Harvey L Levy 3 collaborations

Casie A Genetti 3 collaborations

Stacey Pereira 3 collaborations

Ingrid A Holm 3 collaborations

Amy L McGuire 3 collaborations

Robert C Green 3 collaborations

Xiaoping Huang 2 collaborations

Vikram Daesety 2 collaborations

Cynthia S Gubbels 2 collaborations

Talia S Schwartz 2 collaborations

Jill O Robinson 2 collaborations

Pankaj B Agrawal 2 collaborations

Timothy W Yu 2 collaborations

Richard B Parad 2 collaborations

Kurt D Christensen 2 collaborations

P Ellen Grant 2 collaborations

Irina Anselm 2 collaborations

Rodolfo Ramos-Álvarez 2 collaborations

Maili Kapp 2 collaborations

María Mercedes Rodríguez-Ruiz 2 collaborations

Kirsten Ahring 2 collaborations

Arianna K Stefanatos 1 collaboration

Teresa M Y Kok 1 collaboration

Burcu Ozturk-Hismi 1 collaboration

Susan Feenstra 1 collaboration

Minela Haskovic 1 collaboration

Wanshu Qi 1 collaboration

Leah Hecht 1 collaboration

Mohamed A Almuqbil 1 collaboration

Jonathan D Picker 1 collaboration

Grace E VanNoy 1 collaboration

Devan Petersen 1 collaboration

Shawn Fayer 1 collaboration

Hayley A Peoples 1 collaboration

Wendi N Betting 1 collaboration

Hadley Stevens Smith 1 collaboration

Leslie A Frankel 1 collaboration

Rubaiya Islam 1 collaboration

Jill Oliver Robinson 1 collaboration

Carrie L Blout Zawatsky 1 collaboration

Bethany Zettler 1 collaboration

Monica H Wojcik 1 collaboration

Jane E Stewart 1 collaboration

Jonathan S Litt 1 collaboration

Melissa K Uveges 1 collaboration

Gloria A Bachmann 1 collaboration

Arnold B Rabson 1 collaboration

Frances Rohr 1 collaboration

Ann Wessel 1 collaboration

Cary O Harding 1 collaboration

Krista Viau 1 collaboration

Amy Kritzer 1 collaboration

Jinkuk Kim 1 collaboration

Chunguang Hu 1 collaboration

Christelle Moufawad El Achkar 1 collaboration

Lauren E Black 1 collaboration

Julie Douville 1 collaboration

Austin Larson 1 collaboration

Mary K Pendergast 1 collaboration

Sara F Goldkind 1 collaboration

Eunjung A Lee 1 collaboration

Ashley Kuniholm 1 collaboration

Aubrie Soucy 1 collaboration

Jai Vaze 1 collaboration

Nandkishore R Belur 1 collaboration

Kristina Fredriksen 1 collaboration

Iva Stojkovska 1 collaboration

Alla Tsytsykova 1 collaboration

Myriam Armant 1 collaboration

Renata L DiDonato 1 collaboration

Jaejoon Choi 1 collaboration

Laura Cornelissen 1 collaboration

Luis M Pereira 1 collaboration

Erika F Augustine 1 collaboration

Kira Dies 1 collaboration

Brenda Barton 1 collaboration

Lucinda Williams 1 collaboration

Benjamin D Goodlett 1 collaboration

Bobbie L Riley 1 collaboration

Amy Pasternak 1 collaboration

Emily R Berry 1 collaboration

Kelly A Pflock 1 collaboration

Stephen Chu 1 collaboration

Chantal Reed 1 collaboration

Kimberly Tyndall 1 collaboration

David K Urion 1 collaboration

Richard O Snyder 1 collaboration

Annapurna Poduri 1 collaboration

Peter J Park 1 collaboration

Al Patterson 1 collaboration

Alessandra Biffi 1 collaboration

Joseph R Mazzulli 1 collaboration

Olaf Bodamer 1 collaboration

Charles B Berde 1 collaboration

M E Rubio-Gozalbo 1 collaboration

M Haskovic 1 collaboration

A M Bosch 1 collaboration

B Burnyte 1 collaboration

A I Coelho 1 collaboration

D Cassiman 1 collaboration

M L Couce 1 collaboration

C Dawson 1 collaboration

D Demirbas 1 collaboration

T Derks 1 collaboration

F Eyskens 1 collaboration

M T Forga 1 collaboration

S Grunewald 1 collaboration

J Häberle 1 collaboration

M Hochuli 1 collaboration

A Hubert 1 collaboration

H H Huidekoper 1 collaboration

P Janeiro 1 collaboration

J Kotzka 1 collaboration

I Knerr 1 collaboration

P Labrune 1 collaboration

Y E Landau 1 collaboration

J G Langendonk 1 collaboration

D Möslinger 1 collaboration

D Müller-Wieland 1 collaboration

E Murphy 1 collaboration

K Õunap 1 collaboration

D Ramadza 1 collaboration

I A Rivera 1 collaboration

S Scholl-Buergi 1 collaboration

K M Stepien 1 collaboration

A Thijs 1 collaboration

C Tran 1 collaboration

R Vara 1 collaboration

G Visser 1 collaboration

R Vos 1 collaboration

M de Vries 1 collaboration

M M Welsink-Karssies 1 collaboration

S B Wortmann 1 collaboration

M Gautschi 1 collaboration

E P Treacy 1 collaboration

G T Berry 1 collaboration

Cristan A Farmer 1 collaboration

Aaron J Kaat 1 collaboration

Audrey Thurm 1 collaboration

Natacha Akshoomoff 1 collaboration

Amanda Bennett 1 collaboration

Leandra Berry 1 collaboration

Aleksandra Bruchey 1 collaboration

Bruce A Barshop 1 collaboration

Elizabeth Berry-Kravis 1 collaboration

Simona Bianconi 1 collaboration

Kim M Cecil 1 collaboration

Robert J Davis 1 collaboration

Can Ficicioglu 1 collaboration

Forbes D Porter 1 collaboration

Allison Wainer 1 collaboration

Robin P Goin-Kochel 1 collaboration

Caroline Leonczyk 1 collaboration

Whitney Guthrie 1 collaboration

Dwight Koeberl 1 collaboration

Jamie Love-Nichols 1 collaboration

Eva Mamak 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Rebecca P Thomas 1 collaboration

Gail A Spiridigliozzi 1 collaboration

Nancy Sullivan 1 collaboration

Vernon R Sutton 1 collaboration

Manisha D Udhnani 1 collaboration

Judith S Miller 1 collaboration

Rocío Fausor 1 collaboration

María Amor Bueno-Delgado 1 collaboration

Amaya Bélanger-Quintana 1 collaboration

César Augusto Solano-Galvis 1 collaboration

Antonio Campos Soto 1 collaboration

Corinna Buerger 1 collaboration

Sven F Garbade 1 collaboration

Fabienne Dietrich Alber 1 collaboration

Robert McCarter 1 collaboration

Stefan Kölker 1 collaboration

Peter Burgard 1 collaboration

David J Harris 1 collaboration

Pamela H Arn 1 collaboration

Jordan P Lerner-Ellis 1 collaboration

Lee-Jun Wong 1 collaboration

Banu Ahtam 1 collaboration

Vera Anastasoaie 1 collaboration

Matthew Brown 1 collaboration

Stephanie Petrides 1 collaboration

Onur Afacan 1 collaboration

Sanjay P Prabhu 1 collaboration

Donald Schomer 1 collaboration

Patricia E Greenstein 1 collaboration

Karen S Yee 1 collaboration

Yanyu Wu 1 collaboration

Magdalena Harrington 1 collaboration

Catherine Tran 1 collaboration

Margaret Hsiao 1 collaboration