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ArticlesPeer ReviewedFull Text
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
Author / Creator:Shukla, Anju ; Hebbar, Malavika ; Srivastava, Anshika ; Kadavigere, Rajagopal ; Upadhyai, Priyanka ; Kanthi, Anil ; Brandau, Oliver ; Bielas, Stephanie ; Girisha, Katta M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-07, Vol.62 (7), p.723-727
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ArticlesPeer ReviewedFull Text
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
Author / Creator:Cozma, Claudia ; Iurașcu, Marius-Ionuț ; Eichler, Sabrina ; Hovakimyan, Marina ; Brandau, Oliver ; Zielke, Susanne ; Böttcher, Tobias ; Giese, Anne-Katrin ; Lukas, Jan ; Rolfs, Arndt
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-07, Vol.7 (1), p.6149-13, Article 6149
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ArticlesPeer ReviewedFull Text
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Author / Creator:Al-Kindi, Adila ; Al-Shehhi, Maryam ; Westenberger, Ana ; Beetz, Christian ; Scott, Patrick ; Brandau, Oliver ; Abbasi-Moheb, Lia ; Yüksel, Zafer ; Bauer, Peter ; Rolfs, Arndt ; Grüning, Nana-Maria
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-01, Vol.65 (2), p.193-197
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ArticlesPeer ReviewedFull Text
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
Author / Creator:Pandita, Shewata ; Ramachandran, Vijaya ; Balakrishnan, Prahlad ; Rolfs, Arndt ; Brandau, Oliver ; Eichler, Sabrina ; Bhalla, Anil Kumar ; Khullar, Dinesh ; Amitabh, Vindu ; Ramanarayanan, Sivaramakrishnan ; Kher, Vijay ; Verma, Jyotsna ; Kohli, Sudha ; Saxena, Renu ; Verma, Ishwar Chander
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-05, Vol.64 (5), p.409-419
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ArticlesPeer ReviewedFull Text
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
Author / Creator:Ratnasamy, Vithiya ; Navaneethakrishnan, Suganthan ; Sirisena, Nirmala Dushyanthi ; Grüning, Nana-Maria ; Brandau, Oliver ; Thirunavukarasu, Kumanan ; Dagnall, Casey L. ; McReynolds, Lisa J. ; Savage, Sharon A. ; Dissanayake, Vajira H. W.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-05, Vol.19 (1), p.85-85, Article 85
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ArticlesPeer ReviewedFull Text
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
Author / Creator:Soler‐Cardona, Ana ; Brandau, Oliver ; Laccone, Franco ; Tanew, Adrian ; Radakovic, Sonja
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2019-08, Vol.7 (8), p.1522-1525
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ArticlesPeer ReviewedFull Text
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Author / Creator:Pusch, Carsten M. ; Zeitz, Christina ; Brandau, Oliver ; Pesch, Katrin ; Achatz, Helene ; Feil, Silke ; Scharfe, Curt ; Maurer, Johannes ; Jacobi, Felix K. ; Pinckers, Alfred ; Andreasson, Sten ; Hardcastle, Alison ; Wissinger, Bernd ; Berger, Wolfgang ; Meindl, Alfons
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.324-327
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ArticlesPeer ReviewedFull Text
Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation
Author / Creator:Gundacker, Claudia ; Dolznig, Helmut ; Mikula, Mario ; Rosner, Margit ; Brandau, Oliver ; Hengstschläger, Markus
Publisher:China: Medknow Publications & Media Pvt. Ltd
Journal title:Asian journal of andrology, 2012-03, Vol.14 (2), p.247-250
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ArticlesPeer ReviewedFull Text
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Author / Creator:Trujillano, Daniel ; Bertoli-Avella, Aida M ; Kumar Kandaswamy, Krishna ; Weiss, Maximilian ER ; Köster, Julia ; Marais, Anett ; Paknia, Omid ; Schröder, Rolf ; Garcia-Aznar, Jose Maria ; Werber, Martin ; Brandau, Oliver ; Calvo del Castillo, Maria ; Baldi, Caterina ; Wessel, Karen ; Kishore, Shivendra ; Nahavandi, Nahid ; Eyaid, Wafaa ; Al Rifai, Muhammad Talal ; Al-Rumayyan, Ahmed ; Al-Twaijri, Waleed ; Alothaim, Ali ; Alhashem, Amal ; Al-Sannaa, Nouriya ; Al-Balwi, Mohammed ; Alfadhel, Majid ; Rolfs, Arndt ; Abou Jamra, Rami
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.176-182
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ArticlesPeer ReviewedFull Text
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
Author / Creator:Steinkellner, Hannes ; Etzler, Julia ; Gogoll, Laura ; Neesen, Jürgen ; Stifter, Eva ; Brandau, Oliver ; Laccone, Franco
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1186-1191
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ArticlesPeer ReviewedFull Text
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
Author / Creator:Zombor, Melinda ; Kalmár, Tibor ; Nagy, Nikoletta ; Berényi, Marianne ; Telcs, Borbála ; Maróti, Zoltán ; Brandau, Oliver ; Sztriha, László
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2019-05, Vol.60 (2), p.151-162
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ArticlesPeer ReviewedFull Text
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
Author / Creator:Bertoli-Avella, Aida M. ; Garcia-Aznar, Jose M. ; Brandau, Oliver ; Al-Hakami, Fahad ; Yüksel, Zafer ; Marais, Anett ; Grüning, Nana-Maria ; Abbasi Moheb, Lia ; Paknia, Omid ; Alshaikh, Nahla ; Alameer, Seham ; Marafi, Makia J. ; Al-Mulla, Fahd ; Al-Sannaa, Nouriya ; Rolfs, Arndt ; Bauer, Peter
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.592-598
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ArticlesPeer ReviewedFull Text
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Author / Creator:Zemni, Ramzi ; Bienvenu, Thierry ; Vinet, Marie C. ; Sefiani, Aziz ; Carrié, Alain ; Billuart, Pierre ; McDonell, Nathalie ; Couvert, Philippe ; Francis, Fiona ; Chafey, Philippe ; Fauchereau, Fabien ; Friocourt, Gaelle ; Portes, Vincent des ; Cardona, Anna ; Frints, Suzanna ; Meindl, Alfonse ; Brandau, Oliver ; Ronce, Nathalie ; Moraine, Claude ; Bokhoven, Han van ; Ropers, Hans H. ; Sudbrak, Ralf ; Kahn, Axel ; Fryns, Jean P ; Beldjord, Cherif ; Chelly, Jamel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-02, Vol.24 (2), p.167-170
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ArticlesPeer ReviewedFull Text
Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course
Author / Creator:Holinski-Feder, Elke ; Weiss, Michael ; Brandau, Oliver ; Jedele, Kerry B ; Nore, Beston ; Backesjo, C. Magnus ; Vihinen, Mauno ; Hubbard, Stevan R ; Belohradsky, Bernd H ; Smith, C.I. Edvard ; Meindl, Alfons
Publisher:Elk Grove Village, IL: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 1998-02, Vol.101 (2), p.276-284
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ReportsFull Text
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome
Author / Creator:Soler-Cardona, Ana ; Brandau, Oliver ; Laccone, Franco ; Tanew, Adrian ; Radakovic, Sonja
Journal title:Clinical case reports, 2019, Vol.7 (8), p.1522-1525
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ArticlesFull Text
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Author / Creator:Shukla, Anju ; Hebbar, Malavika ; Srivastava, Anshika ; Rajagopal Kadavigere ; Upadhyai, Priyanka ; Kanthi, Anil ; Brandau, Oliver ; Bielas, Stephanie ; Katta Girisha
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2016-11
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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

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Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

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De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome

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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

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Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

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A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

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Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course

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De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome

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Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome

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