Works by Feigenbaum, Annette

Results: 22

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Published in:

Human Mutation, 2018, v. 39, n. 11, p. 1569, doi. 10.1002/humu.23649

By:

Zastrow, Diane B.;
Baudet, Heather;
Shen, Wei;
Thomas, Amanda;
Si, Yue;
Weaver, Meredith A.;
Lager, Angela M.;
Liu, Jixia;
Mangels, Rachel;
Dwight, Selina S.;
Wright, Matt W.;
Dobrowolski, Steven F.;
Eilbeck, Karen;
Enns, Gregory M.;
Feigenbaum, Annette;
Lichter‐Konecki, Uta;
Lyon, Elaine;
Pasquali, Marzia;
Watson, Michael;
Blau, Nenad

Publication type:

Article

Cover Image, Volume 39, Issue 11.

Published in:

Human Mutation, 2018, v. 39, n. 11, p. i, doi. 10.1002/humu.23662

By:

Zastrow, Diane B.;
Baudet, Heather;
Shen, Wei;
Thomas, Amanda;
Si, Yue;
Weaver, Meredith A.;
Lager, Angela M.;
Liu, Jixia;
Mangels, Rachel;
Dwight, Selina S.;
Wright, Matt W.;
Dobrowolski, Steven F.;
Eilbeck, Karen;
Enns, Gregory M.;
Feigenbaum, Annette;
Lichter‐Konecki, Uta;
Lyon, Elaine;
Pasquali, Marzia;
Watson, Michael;
Blau, Nenad

Publication type:

Article

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

Published in:

2019

By:

Karaceper, Maria D.;
Khangura, Sara D.;
Wilson, Kumanan;
Coyle, Doug;
Brownell, Marni;
Davies, Christine;
Dodds, Linda;
Feigenbaum, Annette;
Fell, Deshayne B.;
Grosse, Scott D.;
Guttmann, Astrid;
Hawken, Steven;
Hayeems, Robin Z.;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Mhanni, Aizeddin;
Mitchell, John J.;
Nakhla, Meranda;
Potter, Murray

Publication type:

journal article

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

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6

By:

Owen, Mallory J.;
Lefebvre, Sebastien;
Hansen, Christian;
Kunard, Chris M.;
Dimmock, David P.;
Smith, Laurie D.;
Scharer, Gunter;
Mardach, Rebecca;
Willis, Mary J.;
Feigenbaum, Annette;
Niemi, Anna-Kaisa;
Ding, Yan;
Van Der Kraan, Luca;
Ellsworth, Katarzyna;
Guidugli, Lucia;
Lajoie, Bryan R.;
McPhail, Timothy K.;
Mehtalia, Shyamal S.;
Chau, Kevin K.;
Kwon, Yong H.

Publication type:

Article

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

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6

By:

Owen, Mallory J.;
Lefebvre, Sebastien;
Hansen, Christian;
Kunard, Chris M.;
Dimmock, David P.;
Smith, Laurie D.;
Scharer, Gunter;
Mardach, Rebecca;
Willis, Mary J.;
Feigenbaum, Annette;
Niemi, Anna-Kaisa;
Ding, Yan;
Van Der Kraan, Luca;
Ellsworth, Katarzyna;
Guidugli, Lucia;
Lajoie, Bryan R.;
McPhail, Timothy K.;
Mehtalia, Shyamal S.;
Chau, Kevin K.;
Kwon, Yong H.

Publication type:

Article

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature.

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 1, p. 1, doi. 10.1080/13816810500481832

By:

Miller, Garfield L.;
Somani, Sohel;
Nowaczyk, Malgorzata J. M.;
Feigenbaum, Annette;
Davidson, Ronald G.;
Costa, Teresa;
Levin, Alex V.

Publication type:

Article

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1848, doi. 10.1002/ajmg.a.62160

By:

Tise, Christina G.;
Morales, Jose Andres;
Lee, Ariel S.;
Velez‐Bartolomei, Frances;
Floyd, Brendan J.;
Levy, Rebecca J.;
Cusmano‐Ozog, Kristina P.;
Feigenbaum, Annette S.;
Ruzhnikov, Maura R. Z.;
Lee, Chung U.;
Enns, Gregory M.

Publication type:

Article

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 360, doi. 10.1002/ajmg.a.35732

By:

Feigenbaum, Annette;
Müller, Christine;
Yale, Christopher;
Kleinheinz, Johannes;
Jezewski, Peter;
Kehl, Hans Gerd;
MacDougall, Mary;
Rutsch, Frank;
Hennekam, Raoul C.M.

Publication type:

Article

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Published in:

2013

By:

Kevelam, Sietske H;
Bugiani, Marianna;
Salomons, Gajja S;
Feigenbaum, Annette;
Blaser, Susan;
Prasad, Chitra;
Häberle, Johannes;
Baric, Ivo;
Bakker, Ingrid M C;
Postma, Nienke L;
Kanhai, Warsha A;
Wolf, Nicole I;
Abbink, Truus E M;
Waisfisz, Quinten;
Heutink, Peter;
van der Knaap, Marjo S

Publication type:

Journal Article

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054

By:

Kevelam, Sietske H.;
Bugiani, Marianna;
Salomons, Gajja S.;
Feigenbaum, Annette;
Blaser, Susan;
Prasad, Chitra;
Häberle, Johannes;
Barić, Ivo;
Bakker, Ingrid M. C.;
Postma, Nienke L.;
Kanhai, Warsha A.;
Wolf, Nicole I.;
Abbink, Truus E. M.;
Waisfisz, Quinten;
Heutink, Peter;
van der Knaap, Marjo S.

Publication type:

Article

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.

Published in:

2016

By:

Karaceper, Maria D.;
Chakraborty, Pranesh;
Coyle, Doug;
Wilson, Kumanan;
Kronick, Jonathan B.;
Hawken, Steven;
Davies, Christine;
Brownell, Marni;
Dodds, Linda;
Feigenbaum, Annette;
Fell, Deshayne B.;
Grosse, Scott D.;
Guttmann, Astrid;
Laberge, Anne-Marie;
Mhanni, Aizeddin;
Miller, Fiona A.;
Mitchell, John J.;
Nakhla, Meranda;
Prasad, Chitra;
Rockman-Greenberg, Cheryl

Publication type:

journal article

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

Published in:

Annals of Neurology, 2003, v. 53, n. 2, p. 252

By:

Marjo S. Van Der Knaap;
Patrick Van Der Voorn;
Frederik Barkhof;
Rudy Van Coster;
Ingeborg Krägeloh-Mann;
Annette Feigenbaum;
Susan Blaser;
Johan S. H. Vles;
Peter Rieckmann;
Petra J. W. Pouwels

Publication type:

Article

Mitochondrial DNA depletion and dGK gene mutations.

Published in:

2002

By:

Salviati, Leonardo;
Sacconi, Sabrina;
Mancuso, Michelangelo;
Otaegui, David;
Camaño, Pilar;
Marina, Alberto;
Rabinowitz, Simon;
Shiffman, Rebecca;
Thompson, Karen;
Wilson, Claire M.;
Feigenbaum, Annette;
Naini, Ali B.;
Hirano, Michio;
Bonilla, Eduardo;
DiMauro, Salvatore;
Vu, Tuan H.;
Camaño, Pilar

Publication type:

journal article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 3, doi. 10.1002/jmd2.12092

By:

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

Publication type:

Article

A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation.

Published in:

Canadian Medical Association Journal (CMAJ), 2006, v. 175, n. 11, p. 1369, doi. 10.1503/cmaj.060214

By:

Mahant, Sanjay;
Feigenbaum, Annette

Publication type:

Article

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.

Published in:

2020

By:

Tingley, Kylie;
Lamoureux, Monica;
Pugliese, Michael;
Geraghty, Michael T.;
Kronick, Jonathan B.;
Potter, Beth K.;
Coyle, Doug;
Wilson, Kumanan;
Kowalski, Michael;
Austin, Valerie;
Brunel-Guitton, Catherine;
Buhas, Daniela;
Chan, Alicia K. J.;
Dyack, Sarah;
Feigenbaum, Annette;
Giezen, Alette;
Goobie, Sharan;
Greenberg, Cheryl R.;
Ghai, Shailly Jain;
Inbar-Feigenberg, Michal

Publication type:

journal article

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

Published in:

Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240

By:

Paik, Karen;
Lines, Matthew A.;
Chakraborty, Pranesh;
Khangura, Sara D.;
Latocki, Maureen;
Al-Hertani, Walla;
Brunel-Guitton, Catherine;
Khan, Aneal;
Penny, Blaine;
Rockman-Greenberg, Cheryl;
Rupar, C. Anthony;
Sondheimer, Neal;
Tarnopolsky, Mark;
Tingley, Kylie;
Coyle, Doug;
Dyack, Sarah;
Feigenbaum, Annette;
Geraghty, Michael T.;
Gillis, Jane;
van Karnebeek, Clara D. M.

Publication type:

Article

Inner ear dysplasia is common in children with Down syndrome (trisomy 21).

Published in:

2006

By:

Blaser S;
Propst EJ;
Martin D;
Feigenbaum A;
James AL;
Shannon P;
Papsin BC;
Blaser, Susan;
Propst, Evan J;
Martin, Daniel;
Feigenbaum, Annette;
James, Adrian L;
Shannon, Patrick;
Papsin, Blake C

Publication type:

journal article

Inner Ear Dysplasia is Common in Children With Down Syndrome (trisomy 21).

Published in:

Laryngoscope, 2006, v. 116, n. 12, p. 2113, doi. 10.1097/01.mlg.0000245034.77640.4f

By:

Blaser, Susan;
Propst, Evan J.;
Martin, Daniel;
Feigenbaum, Annette;
James, Adrian L.;
Shannon, Patrick;
Papsin, Blake C.

Publication type:

Article

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

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006091

By:

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

Publication type:

Article

Evaluation and Counseling of Teratogenic Risk: The Motherisk Approach.

Published in:

1993

By:

Koren, Gideon;
Graham, Karen;
Feigenbaum, Annette;
Einarson, Tom

Publication type:

Other

Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 82, doi. 10.1002/(SICI)1098-1004(1997)10:1<82::AID-HUMU13>3.0.CO;2-W

By:

Strasberg, Paula;
Warren, Irene;
Skomorowski, Marie-Anne;
Feigenbaum, Annette

Publication type:

Article