Works matching AU Ziegler, Alban

Results: 26

Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Published in:

2022

By:

Dzinovic, Ivana;
Serranová, Tereza;
Prouteau, Clement;
Colin, Estelle;
Ziegler, Alban;
Winkelmann, Juliane;
Jech, Robert;
Zech, Michael

Publication type:

Correction Notice

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Published in:

Neurogenetics, 2021, v. 22, n. 2, p. 137, doi. 10.1007/s10048-021-00637-6

By:

Dzinovic, Ivana;
Serranová, Tereza;
Prouteau, Clement;
Colin, Estelle;
Ziegler, Alban;
Winkelmann, Juliane;
Jech, Robert;
Zech, Michael

Publication type:

Article

Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Published in:

Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071

By:

Harms, Frederike L.;
Parthasarathy, Padmini;
Zorndt, Dennis;
Alawi, Malik;
Fuchs, Sigrid;
Halliday, Benjamin J.;
McKeown, Colina;
Sampaio, Hugo;
Radhakrishnan, Natasha;
Radhakrishnan, Suresh K.;
Gorce, Magali;
Navet, Benjamin;
Ziegler, Alban;
Sachdev, Rani;
Robertson, Stephen P.;
Nampoothiri, Sheela;
Kutsche, Kerstin

Publication type:

Article

A snapshot of some pLI score pitfalls.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 839, doi. 10.1002/humu.23763

By:

Ziegler, Alban;
Colin, Estelle;
Goudenège, David;
Bonneau, Dominique

Publication type:

Article

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.

Published in:

Amino Acids, 2022, v. 54, n. 4, p. 485, doi. 10.1007/s00726-021-03023-6

By:

Park, Myung Hee;
Kar, Rajesh Kumar;
Banka, Siddharth;
Ziegler, Alban;
Chung, Wendy K.

Publication type:

Article

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1266686

By:

Pontrucher, Audrey;
Barth, Magalie;
Ziegler, Alban;
Chao de la Barca, Juan Manuel;
Mirebeau-Prunier, Delphine;
Reynier, Pascal;
Homedan, Chadi

Publication type:

Article

Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply.

Published in:

2025

By:

Ziegler, Alban;
Chung, Wendy K.

Publication type:

Letter to the Editor

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Published in:

JAMA: Journal of the American Medical Association, 2025, v. 333, n. 3, p. 232, doi. 10.1001/jama.2024.19662

By:

Ziegler, Alban;
Koval-Burt, Carrie;
Kay, Denise M.;
Suchy, Sharon F.;
Begtrup, Amber;
Langley, Katherine G.;
Hernan, Rebecca;
Amendola, Laura M.;
Boyd, Brenna M.;
Bradley, Jennifer;
Brandt, Tracy;
Cohen, Lilian L.;
Coffey, Alison J.;
Devaney, Joseph M.;
Dygulska, Beata;
Friedman, Bethany;
Fuleihan, Ramsay L.;
Gyimah, Awura;
Hahn, Sihoun;
Hofherr, Sean

Publication type:

Article

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 3, p. 357, doi. 10.3109/13816810.2015.1087578

By:

Fradin, Mélanie;
Colin, Estelle;
Hannouche-Bared, Daniele;
Audo, Isabelle;
Sahel, Jose Alain;
Biskup, Saskia;
Carré, Wilfried;
Ziegler, Alban;
Wilhelm, Christian;
Guichet, Agnès;
Odent, Sylvie;
Bonneau, Dominique

Publication type:

Article

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 21, p. 3063, doi. 10.1093/hmg/ddad130

By:

Koop, Klaas;
Yuan, Weimin;
Tessadori, Federico;
Rodriguez-Polanco, Wilmer R;
Grubbs, Jeremy;
Zhang, Bo;
Osmond, Matt;
Graham, Gail;
Sawyer, Sarah;
Conboy, Erin;
Vetrini, Francesco;
Treat, Kayla;
Płoski, Rafal;
Pienkowski, Victor Murcia;
Kłosowska, Anna;
Fieg, Elizabeth;
Krier, Joel;
Mallebranche, Coralie;
Alban, Ziegler;
Aldinger, Kimberly A

Publication type:

Article

Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2016, doi. 10.1093/hmg/ddad033

By:

Huang, Liping;
Yang, Zhongyue;
Kirschke, Catherine P;
Prouteau, Clément;
Copin, Marie-Christine;
Bonneau, Dominique;
Pellier, Isabelle;
Coutant, Régis;
Miot, Charline;
Ziegler, Alban

Publication type:

Article

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 19, p. 1785, doi. 10.1093/hmg/ddab145

By:

Bassani, Sissy;
Beelen, Edward van;
Rossel, Mireille;
Voisin, Norine;
Morgan, Anna;
Arribat, Yoan;
Chatron, Nicolas;
Chrast, Jacqueline;
Cocca, Massimiliano;
Delprat, Benjamin;
Faletra, Flavio;
Giannuzzi, Giuliana;
Guex, Nicolas;
Machavoine, Roxane;
Pradervand, Sylvain;
Smits, Jeroen J;
Kamp, Jiddeke M van de;
Ziegler, Alban;
Amati, Francesca;
Marlin, Sandrine

Publication type:

Article

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34354-x

By:

Fasano, Giulia;
Muto, Valentina;
Radio, Francesca Clementina;
Venditti, Martina;
Mosaddeghzadeh, Niloufar;
Coppola, Simona;
Paradisi, Graziamaria;
Zara, Erika;
Bazgir, Farhad;
Ziegler, Alban;
Chillemi, Giovanni;
Bertuccini, Lucia;
Tinari, Antonella;
Vetro, Annalisa;
Pantaleoni, Francesca;
Pizzi, Simone;
Conti, Libenzio Adrian;
Petrini, Stefania;
Bruselles, Alessandro;
Prandi, Ingrid Guarnetti

Publication type:

Article

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051

By:

Nøstvik, Miriam;
Kateta, Sarah M.;
Schönewolf‐Greulich, Bitten;
Afenjar, Alexandra;
Barth, Magalie;
Boschann, Felix;
Doummar, Diane;
Haack, Tobias B.;
Keren, Boris;
Livshits, Ludmila A.;
Mei, Davide;
Park, Joohyun;
Pisano, Tiziana;
Prouteau, Clement;
Umair, Muhammad;
Waqas, Ahmed;
Ziegler, Alban;
Guerrini, Renzo;
Møller, Rikke S.;
Tümer, Zeynep

Publication type:

Article

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 604, doi. 10.1111/cge.13902

By:

Ziegler, Alban;
Denommé‐Pichon, Anne‐Sophie;
Boucher, Sophie;
Bouzamondo, Nathalie;
Colin, Estelle;
Dieu, Xavier;
Jean Yves, Tanguy;
Bouhours, Natacha;
Rouleau, Stéphanie;
Coutant, Régis;
Rodien, Patrice;
Prunier, Delphine;
Bonneau, Dominique

Publication type:

Article

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 354, doi. 10.1111/cge.13603

By:

Ziegler, Alban;
Bader, Patricia;
McWalter, Kirsty;
Douglas, Ganka;
Houdayer, Clara;
Bris, Céline;
Rouleau, Stephanie;
Coutant, Régis;
Colin, Estelle;
Bonneau, Dominique

Publication type:

Article

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2428, doi. 10.1002/ajmg.a.63340

By:

Kárteszi, Judit;
Ziegler, Alban;
Tihanyi, Mariann;
Elmont, Beatrix;
Zhang, Yuebo;
Patócs, Barbara;
Molnár, Mária Judit;
Méhes, Gábor;
Wells, Kirsty;
Jakus, Rita;
Bessenyei, Beáta;
Ranatunga, Wasantha;
Morava, Éva

Publication type:

Article

Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1954, doi. 10.1002/ajmg.a.62721

By:

Fenster, Rebecca;
Ziegler, Alban;
Kentros, Catherine;
Geltzeiler, Alexa;
Green Snyder, LeeAnne;
Brooks, Elizabeth;
Chung, Wendy K.

Publication type:

Article

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384

By:

Tessarech, Marine;
Gorce, Magali;
Boussion, Françoise;
Bault, Jean‐Philippe;
Triau, Stéphane;
Charif, Majida;
Khiaty, Salim;
Delorme, Benoit;
Guichet, Agnès;
Ziegler, Alban;
Bris, Céline;
Laquerrière, Annie;
Fallet‐Bianco, Catherine;
Jacquette, Aurélia;
Salhi, Houria;
Héron, Delphine;
Reynier, Pascal;
Procaccio, Vincent;
Bonneau, Dominique;
Colin, Estelle

Publication type:

Article

Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.

Published in:

European Journal of Endocrinology, 2024, v. 190, n. 4, p. 266, doi. 10.1093/ejendo/lvae030

By:

Wittrien, Theresa;
Ziegler, Alban;
Rühle, Anne;
Stomberg, Svenja;
Meyer, Ruben;
Bonneau, Dominique;
Rodien, Patrice;
Prunier-Mirebeau, Delphine;
Coutant, Régis;
Behrends, Sönke

Publication type:

Article

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Published in:

2021

By:

Houdayer, Clara;
Ziegler, Alban;
Boussion, Françoise;
Blesson, Sophie;
Bris, Céline;
Toutain, Annick;
Biquard, Florence;
Guichet, Agnès;
Bonneau, Dominique;
Colin, Estelle

Publication type:

journal article

Caregiver‐reported dental manifestations in individuals with genetic neurodevelopmental disorders.

Published in:

International Journal of Paediatric Dentistry, 2024, v. 34, n. 2, p. 145, doi. 10.1111/ipd.13116

By:

Ming, Neil R.;
Noble, Deanna;
Chussid, Steven;
Ziegler, Alban;
Chung, Wendy K.

Publication type:

Article

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.602979

By:

Charif, Majida;
Bris, Céline;
Goudenège, David;
Desquiret-Dumas, Valérie;
Colin, Estelle;
Ziegler, Alban;
Procaccio, Vincent;
Reynier, Pascal;
Bonneau, Dominique;
Lenaers, Guy;
Amati-Bonneau, Patrizia

Publication type:

Article

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

Published in:

Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z

By:

Alsaif, Hessa S.;
Al Ali, Hatoon;
Faqeih, Eissa;
Ramadan, Sahar M.;
Barth, Magalie;
Colin, Estelle;
Prouteau, Clément;
Bonneau, Dominique;
Ziegler, Alban;
Alkuraya, Fowzan S.

Publication type:

Article

Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.

Published in:

British Journal of Dermatology, 2023, v. 189, n. 1, p. 131, doi. 10.1093/bjd/ljad075

By:

Ziegler, Alban;
Ebstein, Frédéric;
Shamseldin, Hanan;
Prouteau, Clément;
Krüger, Elke;
Binamer, Yousef M;
Bonneau, Dominique;
Alkuraya, Fowzan S;
Martin, Ludovic

Publication type:

Article

De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity.

Published in:

Molecular & Cellular Biology, 2024, v. 44, n. 11, p. 473, doi. 10.1080/10985549.2024.2391829

By:

Takatsu, Hiroyuki;
Nishimura, Narumi;
Kosugi, Yusuke;
Ogawa, Haruo;
Nakayama, Kazuhisa;
Colin, Estelle;
Platzer, Konrad;
Abou Jamra, Rami;
Redler, Silke;
Prouteau, Clément;
Ziegler, Alban;
Shin, Hye-Won

Publication type:

Article