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Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders
by
Bellai‐Dussault, Kara
,
Nguyen, Thi Tuyet Mai
,
Baratang, Nissan V.
,
Jimenez‐Cruz, Daniel A.
,
Campeau, Philippe M.
Published in
Clinical genetics
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Hot water epilepsy and SYN1 variants
by
Peron, Angela
,
Baratang, Nissan V.
,
Canevini, Maria Paola
,
Campeau, Philippe M.
,
Vignoli, Aglaia
Published in
Epilepsia (Copenhagen)
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
by
Nguyen, Thi Tuyet Mai
,
Murakami, Yoshiko
,
Mobilio, Sabrina
,
Niceta, Marcello
,
Zampino, Giuseppe
,
Philippe, Christophe
,
Moutton, Sébastien
,
Zaki, Maha S.
,
James, Kiely N.
,
Musaev, Damir
,
Mu, Weiyi
,
Baranano, Kristin
,
Nance, Jessica R.
,
Rosenfeld, Jill A.
,
Braverman, Nancy
,
Ciolfi, Andrea
,
Millan, Francisca
,
Person, Richard E.
,
Bruel, Ange-Line
,
Thauvin-Robinet, Christel
,
Ververi, Athina
,
DeVile, Catherine
,
Male, Alison
,
Efthymiou, Stephanie
,
Maroofian, Reza
,
Houlden, Henry
,
Maqbool, Shazia
,
Rahman, Fatima
,
Baratang, Nissan V.
,
Rousseau, Justine
,
St-Denis, Anik
,
Elrick, Matthew J.
,
Anselm, Irina
,
Rodan, Lance H.
,
Tartaglia, Marco
,
Gleeson, Joseph
,
Kinoshita, Taroh
,
Campeau, Philippe M.
Published in
American journal of human genetics
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
by
Nguyen, Thi Tuyet Mai
,
Murakami, Yoshiko
,
Wigby, Kristen M.
,
Baratang, Nissan V.
,
Rousseau, Justine
,
St-Denis, Anik
,
Rosenfeld, Jill A.
,
Laniewski, Stephanie C.
,
Jones, Julie
,
Iglesias, Alejandro D.
,
Jones, Marilyn C.
,
Masser-Frye, Diane
,
Scheuerle, Angela E.
,
Perry, Denise L.
,
Taft, Ryan J.
,
Le Deist, Françoise
,
Thompson, Miles
,
Kinoshita, Taroh
,
Campeau, Philippe M.
Published in
American journal of human genetics
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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited...
by
Thompson, Miles D.
,
Knaus, Alexej A.
,
Barshop, Bruce A.
,
Caliebe, Almuth
,
Muhle, Hiltrud
,
Nguyen, Thi Tuyet Mai
,
Baratang, Nissan V.
,
Kinoshita, Taroh
,
Percy, Maire E.
,
Campeau, Philippe M.
,
Murakami, Yoshiko
,
Cole, David E.
,
Krawitz, Peter M.
,
Mabry, C. Charlton
Published in
European journal of medical genetics
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
by
Johnstone, Devon L.
,
Nguyen, Thi Tuyet Mai
,
Zambonin, Jessica
,
Kernohan, Kristin D.
,
St‐Denis, Anik
,
Baratang, Nissan V.
,
Hartley, Taila
,
Geraghty, Michael T.
,
Richer, Julie
,
Majewski, Jacek
,
Bareke, Eric
,
Guerin, Andrea
,
Pendziwiat, Manuela
,
Pena, Loren D. M.
,
Braakman, Hilde M. H.
,
Gripp, Karen W.
,
Edmondson, Andrew C.
,
He, Miao
,
Spillmann, Rebecca C.
,
Eklund, Erik A.
,
Bayat, Allan
,
McMillan, Hugh J.
,
Boycott, Kym M.
,
Campeau, Philippe M.
Published in
Journal of inherited metabolic disease
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Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes
by
Raggi, Claudia
,
M’Callum, Marie-Agnès
,
Pham, Quang Toan
,
Gaub, Perrine
,
Selleri, Silvia
,
Baratang, Nissan Vida
,
Mangahas, Chenicka Lyn
,
Cagnone, Gaël
,
Reversade, Bruno
,
Joyal, Jean-Sébastien
,
Paganelli, Massimiliano
Published in
Stem cell reports
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Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants
by
Baratang, Nissan Vida
,
Jimenez Cruz, Daniel Alexander
,
Ajeawung, Norbert Fonya
,
Nguyen, Thi Tuyet Mai
,
Pacheco‐Cuéllar, Guillermo
,
Campeau, Philippe M.
Published in
Molecular genetics & genomic medicine
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9
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Fibronectin isoforms promote postnatal skeletal development
by
Dinesh, Neha E.H.
,
Baratang, Nissan
,
Rosseau, Justine
,
Mohapatra, Ronit
,
Li, Ling
,
Mahalingam, Ramshaa
,
Tiedemann, Kerstin
,
Campeau, Philippe M.
,
Reinhardt, Dieter P.
Published in
Matrix biology
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Hot water epilepsy and SYN 1 variants
by
Peron, Angela
,
Baratang, Nissan V.
,
Canevini, Maria Paola
,
Campeau, Philippe M.
,
Vignoli, Aglaia
Published in
Epilepsia (Copenhagen)
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11
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
by
Murakami, Yoshiko
,
Nguyen, Thi Tuyet Mai
,
Baratang, Nissan
,
Raju, Praveen K.
,
Knaus, Alexej
,
Ellard, Sian
,
Jones, Gabriela
,
Lace, Baiba
,
Rousseau, Justine
,
Ajeawung, Norbert Fonya
,
Kamei, Atsushi
,
Minase, Gaku
,
Akasaka, Manami
,
Araya, Nami
,
Koshimizu, Eriko
,
van den Ende, Jenneke
,
Erger, Florian
,
Altmüller, Janine
,
Krumina, Zita
,
Strautmanis, Jurgis
,
Inashkina, Inna
,
Stavusis, Janis
,
El-Gharbawy, Areeg
,
Sebastian, Jessica
,
Puri, Ratna Dua
,
Kulshrestha, Samarth
,
Verma, Ishwar C.
,
Maier, Esther M.
,
Haack, Tobias B.
,
Israni, Anil
,
Baptista, Julia
,
Gunning, Adam
,
Rosenfeld, Jill A.
,
Liu, Pengfei
,
Joosten, Marieke
,
Rocha, María Eugenia
,
Hashem, Mais O.
,
Aldhalaan, Hesham M.
,
Alkuraya, Fowzan S.
,
Miyatake, Satoko
,
Matsumoto, Naomichi
,
Krawitz, Peter M.
,
Rossignol, Elsa
,
Kinoshita, Taroh
,
Campeau, Philippe M.
Published in
American journal of human genetics
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
by
Lee, Chae Syng
,
Fu, He
,
Baratang, Nissan
,
Rousseau, Justine
,
Kumra, Heena
,
Sutton, V. Reid
,
Niceta, Marcello
,
Ciolfi, Andrea
,
Yamamoto, Guilherme
,
Bertola, Débora
,
Marcelis, Carlo L.
,
Lugtenberg, Dorien
,
Bartuli, Andrea
,
Kim, Choel
,
Hoover-Fong, Julie
,
Sobreira, Nara
,
Pauli, Richard
,
Bacino, Carlos
,
Krakow, Deborah
,
Parboosingh, Jillian
,
Yap, Patrick
,
Kariminejad, Ariana
,
McDonald, Marie T.
,
Aracena, Mariana I.
,
Lausch, Ekkehart
,
Unger, Sheila
,
Superti-Furga, Andrea
,
Lu, James T.
,
Cohn, Dan H.
,
Tartaglia, Marco
,
Lee, Brendan H.
,
Reinhardt, Dieter P.
,
Campeau, Philippe M.
Published in
American journal of human genetics
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
by
Phillips, Jennifer B.
,
Lanza, Denise G.
,
Jain, Mahim
,
Raman, Vandana
,
Chitayat, David
,
Chinn, Ivan K.
,
Bertuch, Alison A.
,
Bamshad, Michael
,
Savarirayan, Ravi
,
Doddapaneni, Harsha
,
Muzny, Donna
,
Gibbs, Richard A.
,
Rosenfeld, Jill A.
,
Postlethwait, John
,
Beaudet, Arthur L.
,
Ranza, Emmanuelle
,
Cormier-Daire, Valérie
,
Orange, Jordan S.
,
Allard, Patrick
,
Barseghyan, Hayk
,
Batzli, Gabriel F.
,
Beggs, Alan H.
,
Bellen, Hugo J.
,
Bernstein, Jonathan A.
,
Bick, David P.
,
Briere, Lauren C.
,
Brokamp, Elly
,
Brush, Matthew
,
Coakley, Terra R.
,
Cope, Heidi
,
Davidson, Jean M.
,
Dayal, Jyoti G.
,
Dhar, Shweta U.
,
Dipple, Katrina M.
,
Dorrani, Naghmeh
,
Duncan, Laura
,
Emrick, Lisa T.
,
Eng, Christine M.
,
Enns, Gregory M.
,
Fisher, Paul G.
,
Friedman, Noah D.
,
Gahl, William A.
,
Glanton, Emily
,
Goldman, Alica M.
,
Gourdine, Jean-Philippe F.
,
Groden, Catherine A.
,
Haendel, Melissa
,
Hamid, Rizwan
,
High, Frances
,
Huang, Yong
,
Karaviti, Lefkothea
,
Kohler, Jennefer N.
,
Krasnewich, Donna M.
,
Korrick, Susan
,
Krier, Joel B.
,
Kyle, Jennifer E.
,
Lau, C. Christopher
,
Lee, Hane
,
Loo, Sandra K.
,
Loscalzo, Joseph
,
Martin, Martin G.
,
Martínez-Agosto, Julian A.
,
Marwaha, Shruti
,
McCormack, Colleen E.
,
McCray, Alexa T.
,
Metz, Thomas O.
,
Murdock, David R.
,
Newberry, J. Scott
,
Nicholas, Sarah K.
,
Palmer, Christina G.S.
,
Papp, Jeanette C.
,
Phillips, John A.
,
Posey, Jennifer E.
,
Pusey, Barbara N.
,
Sampson, Jacinda B.
,
Shakachite, Lisa
,
Signer, Rebecca
,
Silverman, Edwin K.
,
Spillmann, Rebecca C.
,
Stoler, Joan M.
,
Stong, Nicholas
,
Sweetser, David A.
,
Tan, Queenie K.-G.
,
Tran, Alyssa A.
,
Vogel, Tiphanie P.
,
Wahl, Colleen E.
,
Wangler, Michael F.
,
Waters, Katrina M.
,
Westerfield, Monte
,
Wise, Anastasia L.
,
Yang, John
,
Yang, Yaping
,
Yoon, Amanda J.
,
Zastrow, Diane B.
,
Zhao, Chunli
,
Offiah, Amaka C.
,
Carey, John C.
,
Bacino, Carlos A.
,
Campeau, Philippe M.
,
Lee, Brendan
Published in
American journal of human genetics
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”
by
Costantini, Alice
,
Valta, Helena
,
Baratang, Nissan Vida
,
Yap, Patrick
,
Bertola, Débora R.
,
Yamamoto, Guilherme L.
,
Kim, Chong A.
,
Chen, Jiani
,
Wierenga, Klaas J.
,
Fanning, Elizabeth A.
,
Escobar, Luis
,
McWalter, Kirsty
,
McLaughlin, Heather
,
Willaert, Rebecca
,
Begtrup, Amber
,
Alm, Jessica J.
,
Reinhardt, Dieter P.
,
Mäkitie, Outi
,
Campeau, Philippe M.
Published in
Bone (New York, N.Y.)
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American Journal Of Human Genetics
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Glycosylphosphatidylinositols - Deficiency
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