전남대학교 중앙도서관

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

학술저널

issue: In Genetics in Medicine March 2024
Author: Lavillaureix, Alinoë
Rollier, Paul
Kim, Artem
Panasenkava, Veranika
De Tayrac, Marie
Carré, Wilfrid
Guyodo, Hélène
Faoucher, Marie
Poirel, Elisabeth
Akloul, Linda
Quelin, Chloe
Whalen, Sandra
Bos, Jessica
Broekema, Marjoleine
van Hagen, Johanna M.
Grand, Katheryn
Allen-Sharpley, Michelle
Magness, Emily
McLean, Scott
Kayserili, Hülya
Altunoglu, Umut
En Qi Chong, Angie
Xue, Shifeng
Jeanne, Mederic
Almontashiri, Naif
Habhab, Wisam
Vanlerberghe, Clemence
Faivre, Laurence
Viora Dupont, Eleonore
Philippe, Christophe
Safraou, Hana
Laffargue, Fanny
Mittendorf, Luisa
Abou Jamra, Rami
Patil, Siddaramappa Jagdish
Dalal, Ashwin
Sarma, Asodu Sandeep
Keren, Boris
Reversade, Bruno
Dubourg, Christèle
Odent, Sylvie
Dupé, Valérie
DB Label: Database : ScienceDirect

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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

학술저널

issue: In Genetics in Medicine July 2023 25(7)
Author: Schmid, Cosima M.
Gregor, Anne
Costain, Gregory
Morel, Chantal F.
Massingham, Lauren
Schwab, Jennifer
Quélin, Chloé
Faoucher, Marie
Kaplan, Julie
Procopio, Rebecca
Saunders, Carol J.
Cohen, Ana S.A.
Lemire, Gabrielle
Sacharow, Stephanie
O’Donnell-Luria, Anne
Segal, Ranit Jaron
Kianmahd Shamshoni, Jessica
Schweitzer, Daniela
Ebrahimi-Fakhari, Darius
Monaghan, Kristin
Palculict, Timothy Blake
Napier, Melanie P.
Tao, Alice
Isidor, Bertrand
Moradkhani, Kamran
Reis, André
Sticht, Heinrich
Chung, Wendy K.
Zweier, Christiane
DB Label: Database : ScienceDirect

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Phenotypic characterisation of SMAD4 variant carriers

학술저널

issue: JOURNAL OF MEDICAL GENETICS; APR 4 2024, 7p.
Author: Caillot, Claire
Saurin, Jean-Christophe
Hervieu, Valerie
Faoucher, Marie
Reversat, Julie
Decullier, Evelyne
Poncet, Gilles
Bailly, Sabine
Giraud, Sophie
Dupuis-Girod, Sophie
DB Label: Database : Science Citation Index Expanded

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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

학술저널

issue: In European Journal of Medical Genetics March 2022 65(3)
Author: Arnaud, Lionel
Abi Warde, Marie-Thérèse
Barcia, Giulia
de Bellescize, Julitta
Chatron, Nicolas
Faoucher, Marie
de Saint Martin, Anne
Héron, Delphine
Jedraszak, Guillaume
Lacoste, Caroline
Lèbre, Anne-Sophie
Jenneson-Lyver, Mélanie
Labalme, Audrey
Leguern, Eric
Mignot, Cyril
Milh, Mathieu
Nabbout, Rima
Nava, Caroline
Panagiotakaki, Eleni
Piton, Amélie
Schaefer, Elise
Thevenon, Julien
Villard, Laurent
Ville, Dorothée
Lesca, Gaetan
DB Label: Database : ScienceDirect

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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency

학술저널

issue: In European Journal of Medical Genetics October 2020 63(10)
Author: Pons, Linda
Sabatier, Isabelle
Alix, Eudeline
Faoucher, Marie
Labalme, Audrey
Sanlaville, Damien
Lesca, Gaetan
DB Label: Database : ScienceDirect

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; FEB 2 2023, 110 2, p215-p227, 14p.
Author: Hiatt, Susan M.
Trajkova, Slavica
Sebastiano, Matteo Rossi
Partridge, E. Christopher
Abidi, Fatima E.
Anderson, Ashlyn
Ansar, Muhammad
Antonarakis, Stylianos E.
Azadi, Azadeh
Bachmann-Gagescu, Ruxandra
Bartuli, Andrea
Benech, Caroline
Berkowitz, Jennifer L.
Betti, Michael J.
Brusco, Alfredo
Cannon, Ashley
Caron, Giulia
Chen, Yanmin
Cochran, Meagan E.
Coleman, Tanner F.
Crenshaw, Molly M.
Cuisset, Laurence
Curry, Cynthia J.
Darvish, Hossein
Demirdas, Serwet
Descartes, Maria
Douglas, Jessica
Dyment, David A.
Elloumi, Houda Zghal
Ermondi, Giuseppe
Faoucher, Marie
Farrow, Emily G.
Felker, Stephanie A.
Fisher, Heather
Hurst, Anna C. E.
Joset, Pascal
Kelly, Melissa A.
Kmoch, Stanislav
Leadem, Benjamin R.
Lyons, Michael J.
Macchiaiolo, Marina
Magner, Martin
Mandrile, Giorgia
Mattioli, Francesca
McEown, Megan
Meadows, Sarah K.
Medne, Livija
Meeks, Naomi J. L.
Montgomery, Sarah
Napier, Melanie P.
Natowicz, Marvin
Newberry, Kimberly M.
Niceta, Marcello
Noskova, Lenka
Nowak, Catherine B.
Noyes, Amanda G.
Osmond, Matthew
Prijoles, Eloise J.
Pugh, Jada
Pullano, Verdiana
Quelin, Chloe
Rahimi-Aliabadi, Simin
Rauch, Anita
Redon, Sylvia
Reymond, Alexandre
Schwager, Caitlin R.
Sellars, Elizabeth A.
Scheuerle, Angela E.
Shukarova-Angelovska, Elena
Skraban, Cara
Stolerman, Elliot
Sullivan, Bonnie R.
Tartaglia, Marco
Thiffault, Isabelle
Uguen, Kevin
Umana, Luis A.
Bever, Yolande van
Crabben, Saskia N. van der
Slegtenhorst, Marjon A. van
Waisfisz, Quinten
Washington, Camerun
Rodan, Lance H.
Myers, Richard M.
Cooper, Gregory M.
DB Label: Database : Science Citation Index Expanded

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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

학술저널

issue: GENETICS IN MEDICINE; DEC 2022, 24 12, p2475-p2486, 12p.
Author: Cospain, Auriane
Rivera-Barahona, Ana
Dumontet, Erwan
Gener, Blanca
Bailleul-Forestier, Isabelle
Meyts, Isabelle
Jouret, Guillaume
Isidor, Bertrand
Brewer, Carole
Wuyts, Wim
Moens, Leen
Delafontaine, Selket
Lam, Wayne Wing Keung
Van den Bogaert, Kris
Boogaerts, Anneleen
Scalais, Emmanuel
Besnard, Thomas
Cogne, Benjamin
Guissard, Christophe
Rollier, Paul
Carre, Wilfrid
Bouvet, Regis
Tarte, Karin
Gomez-Carmona, Ricardo
Lapunzina, Pablo
Odent, Sylvie
Faoucher, Marie
Dubourg, Christele
Ruiz-Perez, Victor L.
Devriendt, Koen
Pasquier, Laurent
Perez-Jurado, Luis A.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

학술저널

issue: EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p48-p49, 2p. Supplement: 1
Author: Schmid, Cosima
Gregor, Anne
Costain, Gregory
Morel, Chantal
Massingham, Lauren
Schwab, Jennifer
Quelin, Chloe
Faoucher, Marie
Kaplan, Julie
Procopio, Rebecca
Sauders, Carol J.
Cohen, Ana S. A.
Lemire, Gabrielle
Sacharow, Stephanie
O'Donnell-Luria, Anne
Jaron, Ranit
Shamshoni, Jessica
Schweitzer, Daniela
Ebrahimi-Fakhari, Darius
Monaghan, Kristin
Palculict, Timothy
Napier, Melanie
Tao, Alice
Isidor, Bertrand
Moradkhani, Kamran
Reis, Andre
Sticht, Heinrich
Chung, Wendy
Zweier, Christiane
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

학술저널

issue: International Journal of Neonatal Screening (IJNS); Mar2023, Vol. 9 Issue 1, p6, 14p
Author: Lefèvre, Charles R.
Labarthe, François
Dufour, Diane
Moreau, Caroline
Faoucher, Marie
Rollier, Paul
Arnoux, Jean-Baptiste
Tardieu, Marine
Damaj, Léna
Bendavid, Claude
Dessein, Anne-Frédérique
Acquaviva-Bourdain, Cécile
Cheillan, David
DB Label: Database : Complementary Index

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR)

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