Alban Ziegler

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Venues

Molecular genetics & genomic medicine

Clinical genetics

American journal of medical genetics. Part A

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Judit Kárteszi, Alban Ziegler, Mariann Tihanyi, Beatrix Elmont, Yuebo Zhang, Barbara Patócs, Mária Judit Molnár, Gábor Méhes, Kirsty Wells, Rita Jakus, Beáta Bessenyei, Wasantha Ranatunga, Éva Morava
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy. American journal of medical genetics. Part A (2023)
Rebecca Fenster, Alban Ziegler, Catherine Kentros, Alexa Geltzeiler, LeeAnne Green Snyder, Elizabeth Brooks, Wendy K Chung
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. American journal of medical genetics. Part A 188 (7) (2022)
Miriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, Alexandra Afenjar, Magalie Barth, Felix Boschann, Diane Doummar, Tobias B Haack, Boris Keren, Ludmila A Livshits, Davide Mei, Joohyun Park, Tiziana Pisano, Clement Prouteau, Muhammad Umair, Ahmed Waqas, Alban Ziegler, Renzo Guerrini, Rikke S Møller, Zeynep Tümer
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. Clinical genetics 100 (5) (2021)
Alban Ziegler, Anne Sophie Denommé-Pichon, Sophie Boucher, Nathalie Bouzamondo, Estelle Colin, Xavier Dieu, Tanguy Jean Yves, Natacha Bouhours, Stéphanie Rouleau, Régis Coutant, Patrice Rodien, Delphine Prunier, Dominique Bonneau
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO. Clinical genetics 99 (4) (2020)
Frederike L Harms, Padmini Parthasarathy, Dennis Zorndt, Malik Alawi, Sigrid Fuchs, Benjamin J Halliday, Colina McKeown, Hugo Sampaio, Natasha Radhakrishnan, Suresh K Radhakrishnan, Magali Gorce, Benjamin Navet, Alban Ziegler, Rani Sachdev, Stephen P Robertson, Sheela Nampoothiri, Kerstin Kutsche
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human mutation 41 (9) (2020)
Alban Ziegler, Patricia Bader, Kirsty McWalter, Ganka Douglas, Clara Houdayer, Céline Bris, Stephanie Rouleau, Régis Coutant, Estelle Colin, Dominique Bonneau
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. Clinical genetics 96 (4) (2019)
Alban Ziegler, Estelle Colin, David Goudenège, Dominique Bonneau
A snapshot of some pLI score pitfalls. Human mutation 40 (7) (2019)
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D Roberts, Robert M Petrovich, Samantha A Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle C Monteil, Elizabeth R Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M Skraban, Elaine H Zackai, Holly A Dubbs, Thomas Smol, Jamal Ghoumid, Michael J Parker, Michael Wright, Peter D Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D Gelb, Hagit Baris Feldman, Philippe M Campeau, Maximilian Muenke, Paul A Wade, Katherine Lachlan
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Alban Ziegler