Publications by authors named "Peter M Kroisel"

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Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.
Muzammil Ahmad Khan, Jasmin Blatterer, Markus Kuster, Lukas Kaufmann, Peter M Kroisel

J Genet· August 2025

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disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel

J Med Genet· October 2022

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Peter M Kroisel

Am J Hum Genet· July 2020

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Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Matthias Rath, Stefanie Spiegler, Tim M Strom, Johannes Trenkler, Peter Michael Kroisel

Am J Med Genet A· February 2019

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Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound.
Peter Michael Kroisel, Martin Häusler, Philipp Klaritsch, Eva Karpf, Doris Zebedin

Lancet· May 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Peter M Kroisel

Nat Genet· January 2017

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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Peter M Kroisel

Mol Genet Genomic Med· March 2014

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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Christopher T Gordon, Florence Petit, Peter M Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide

Am J Hum Genet· December 2013

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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Peter M Kroisel

Nat Genet· January 2013

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Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
Sabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, Michael Baudis, Bernd Denecke, Peter Michael Kroisel

J Pediatr· November 2012

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CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Christine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, Joana Paredes, Heather C Etchevers, Peter M Kroisel

Gastroenterology· March 2012

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Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, Marija Orlic-Milacic, Kirti Mittal, Peter M Kroisel

Am J Med Genet B Neuropsychiatr Genet· March 2012

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New mutations in the ATM gene and clinical data of 25 AT patients.
Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Peter Michael Kroisel

Neurogenetics· November 2011

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Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome.
Markus Beitzke, Christian Enzinger, Christian Windpassinger, Dietmar Pfeifer, Franz Fazekas, Peter Michael Kroisel

J Neurol Sci· October 2011

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Peter M Kroisel

Nature· August 2011

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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby, Peter M Kroisel

Eur J Hum Genet· July 2011

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Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
John B Vincent, Abdul Noor, Christian Windpassinger, Peter J Gianakopoulos, Thomas Schwarzbraun, Peter M Kroisel

Am J Med Genet B Neuropsychiatr Genet· September 2009

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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Cécile Mignon-Ravix, Danielle Depetris, Judith J Luciani, Cristina Cuoco, Malgorzata Krajewska-Walasek, Peter M Kroisel

Eur J Hum Genet· April 2007

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A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen-Kaesbach, Barbara Schaperdoth, Karl-Heinz Preisegger, Peter M Kroisel

Am J Med Genet A· March 2007

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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Erwin Petek, Thomas Schwarzbraun, Abdul Noor, Megha Patel, Kazuhiko Nakabayashi, Peter M Kroisel

Mol Genet Genomics· January 2007

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Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Raymonda Varon, Annika Müer, Klaus Wagner, Hannelore Zierler, Sigrun Sodia, Peter M Kroisel

Am J Med Genet A· January 2007

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Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
Lisa Ofner, Jochen Raedle, Christian Windpassinger, Thomas Schwarzbraun, Peter M Kroisel

J Hum Genet· October 2006

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Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, John B Vincent, Joseph Cheung, Peter M Kroisel

Eur J Med Genet· September 2006

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Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
Gerd Hörl, Peter M Kroisel, Elke Wagner, Beate Tiran, Erwin Petek

Atherosclerosis· July 2006

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Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
Georg Singer, Johannes Schalamon, Herwig Ainoedhofer, Erwin Petek, Peter M Kroisel

J Pediatr Surg· November 2005

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