Browsing by Author "Haack, Tobias"

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Haack, Tobias (2017)

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

Mengel, David; Reich, Selina; Bender, Friedemann; Hauser, Stefan; Traschütz, Andreas; Leyva-Gutiérrez, Alejandra; Haack, Tobias; Synofzik, Matthis (2021)

A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)

Grosch, Sarah; Kehrer, Martin; Bevot, Andrea; Rieß, Olaf; Haack, Tobias (2024)

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Reith, Milda; Zeltner, Lena; Witt, Dennis; Zuleger, Theresia; Bornemann, Antje; Ruf, Susanne; Stingl, Katarina; Weisschuh, Nicole; Schäferhoff, Karin; Haack, Tobias; Alber, Michael Wolfgang Hans-Peter; Schöls, Ludger (2022)

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

Buchert, Rebecca; Haack, Tobias (2023)

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies

Dufke, Andreas; Hoopmann, Markus; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Grimmel, Mona; Gauck, Darja; Baumann, Sarah; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schütz, Leon; Ossowski, Stephan; Kagan, Karl Oliver; Waldmüller, Stephan; Prodan, Natalia; Beck-Wödl, Stefanie; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Buchert, Rebecca; Schäferhoff, Karin; Rieß, Olaf; Haack, Tobias (2022)

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Ellwanger, Kornelia; Graessner, Holm; Haack, Tobias; Zurek, Birte (2023)

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease

Grimmel, Mona; Haack, Tobias (2024)

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings

Harzer, Klaus; Beck-Wödl, Stefanie; Haack, Tobias (2022)

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Haack, Tobias (2018)

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Laugwitz, Lucia; Haack, Tobias (2018)

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Synofzik, Matthis; Haack, Tobias (2022)

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Grimmel, Mona; Bevot, Andrea; Buchert, Rebecca; Laugwitz, Lucia; Sturm, Marc; Döbler-Neumann, Marion; Beck-Wödl, Stefanie; Müller, Amelie Johanna; Nägele, Thomas; Rieß, Olaf; Krägeloh-Mann, Ingeborg; Haack, Tobias (2020)

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Laugwitz, Lucia; Haack, Tobias (2022)

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Haack, Tobias (2019)

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Hengel, Holger; Hannan, Shabab B.; Riess, Angelika; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Haack, Tobias; Nägele, Thomas; Schöls, Ludger (2021)

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Grimmel, Mona; Grasshoff, Ute; Gauck, Darja; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Haen, Susanne; Hoopmann, Markus; Ossowski, Stephan; Dufke, Andreas; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Waldmüller, Stephan; Beck-Wödl, Stefanie; Rieß, Olaf; Kagan, Karl Oliver; Haack, Tobias (2023)

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Haack, Tobias (2018)

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Hengel, Holger; Grimmel, Mona; Admard, Jakob; Gazou, Anastasia; Sturm, Marc; Schöls, Ludger; Rieß, Olaf; Haack, Tobias (2021)

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Grossmann, Benita; Grimmel, Mona; Grasshoff, Ute; LRad, Aboulfaz; Vona, Barbara; Haack, Tobias (2021-10-07)

Browsing by Author "Haack, Tobias"

Browsing by Author "Haack, Tobias"

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