Publications by authors named "Alessandra Baumer"

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1
19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.
Angelika Schuknecht, Josephine Wachtl, Alessandra Baumer, Christoph Kniestedt

Klin Monbl Augenheilkd· April 2025

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Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.
Olga Bürger, Angelika Humbel, Ivan Ivanovski, Alessandra Baumer, Anita Rauch

Am J Med Genet A· January 2025

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First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Alessandra Baumer

Life (Basel)· September 2023

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The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Paolo Zanoni, Katharina Steindl, Heinrich Sticht, Beatrice Oneda, Pascal Joset, Alessandra Baumer

Eur J Hum Genet· July 2023

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A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.
Anaïs Begemann, Beatrice Oneda, Alessandra Baumer, Marina Guldimann, Boris Tutschek

Eur J Med Genet· December 2022

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Paranchai Boonsawat, Anselm H C Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset

NPJ Genom Med· July 2022

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Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Laura Gogoll, Katharina Steindl, Pascal Joset, Markus Zweier, Alessandra Baumer

Am J Med Genet A· August 2021

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, Edouard Cottereau, Frédéric Brioude

Eur J Hum Genet· April 2019

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Sorina M Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L Simmons, Alessandra Baumer

Eur J Hum Genet· March 2019

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Anaïs Begemann, Mario A Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Alessandra Baumer

Mol Med· February 2019

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Maria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, Sugirthan Sivalingam, Sabrina Wolf, Alessandra Baumer

Am J Hum Genet· November 2018

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Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani

Eur J Med Genet· April 2018

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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Alessandra Baumer

Eur J Hum Genet· February 2018

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Alessandra Baumer

PLoS Genet· March 2017

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Christine Fauth, Katharina Steindl, Annick Toutain, Sandra Farrell, Martina Witsch-Baumgartner, Alessandra Baumer

Am J Med Genet A· February 2016

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N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
Lucia Abela, Luke Simmons, Katharina Steindl, Bernhard Schmitt, Massimo Mastrangelo, Alessandra Baumer

J Inherit Metab Dis· January 2016

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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.
Markus Gschwind, Giovanni Foletti, Alessandra Baumer, Armand Bottani, Jan Novy

Mol Syndromol· July 2015

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Variants in CUL4B are associated with cerebral malformations.
Anneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A Haas, Hao Hu, Alessandra Baumer

Hum Mutat· January 2015

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The clinical significance of small copy number variants in neurodevelopmental disorders.
Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Alessandra Baumer

J Med Genet· October 2014

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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
Jana-Katharina Dieks, Alessandra Baumer, Ekkehard Wilichowski, Anita Rauch, Matthias Sigler

Eur J Pediatr· September 2014

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Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Annette Hackenberg, Alessandra Baumer, Heinrich Sticht, Bernhard Schmitt, Judith Kroell-Seger

Neuropediatrics· August 2014

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High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Beatrice Oneda, Rosa Baldinger, Regina Reissmann, Irina Reshetnikova, Pavel Krejci, Alessandra Baumer

Prenat Diagn· June 2014

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello-Burri, Rosa Baldinger, Alessandra Baumer

Eur J Hum Genet· October 2013

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Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.
Albert Schinzel, Mariluce Riegel, Alessandra Baumer, Andrea Superti-Furga, Lilia M A Moreira

Am J Med Genet A· September 2013

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Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Deborah Bartholdi, Reza Asadollahi, Beatrice Oneda, Thomas Schmitt-Mechelke, Paolo Tonella, Alessandra Baumer

Am J Med Genet A· August 2013

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