Publications by authors named "Tobias B Haack"

Claim this Profile
B
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Tobias B Haack

J Clin Invest· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germany's national genomDE strategy.
Andreas Till, Roman A Siddiqui, Christian Altbürger, Ronald Schwarz, Tatjana Huebner, Tobias B Haack

Nat Med· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.
Johannes Hilberath, Ilias Tsiflikas, Anna Sanders, Justus Lieber, Tobias Luithle, Tobias B Haack

Orphanet J Rare Dis· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Tobias B Haack

medRxiv· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Tobias B Haack

Am J Hum Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Tobias B Haack

Am J Hum Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants.
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Tobias B Haack

Cell· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm, Tobias B Haack

Epilepsia· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
Elisabetta Indelicato, Zofia Fleszar, David Pellerin, Wolfgang Nachbauer, Stephan Zuchner, Tobias B Haack

Mov Disord· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Diverse Neuromuscular Spectrum of VPS13A Disease.
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck-Woedl, Tobias B Haack

Ann Clin Transl Neurol· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Dennis Witt, Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger, Tobias B Haack

Breast· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Tobias B Haack

Nat Med· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Tobias B Haack

Nat Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Tobias B Haack

Eur J Hum Genet· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, Vijay Gupta, Lara G Stühn, Tobias B Haack

Am J Med Genet A· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European Family.
Frank Grünebach, Tobias B Haack, Michaela Döring, Britta Merz, Antje Petz

HLA· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.
Joohyun Park, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Tobias B Haack

Int J Mol Sci· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Tobias B Haack

Genet Med· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Tobias B Haack

Am J Hum Genet· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, Tobias B Haack

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka, Tobias B Haack

Am J Hum Genet· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Rebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Tobias B Haack

Am J Hum Genet· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Tobias B Haack

Nat Med· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A Estiar, Mihaela Atanasova, Tobias B Haack

Am J Hum Genet· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Tobias B Haack

medRxiv· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis