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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 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
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
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
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
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
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
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
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
Evaluation and Counseling of Teratogenic Risk: The Motherisk Approach.
Published in:
1993
By:
- Koren, Gideon;
- Graham, Karen;
- Feigenbaum, Annette;
- Einarson, Tom
Publication type:
Other
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
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
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
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
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
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

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