Extracranial vascular anomalies ariven by RAS/MAPK variants - spectrum and genotype–phenotype correlations
In: Journal of the American Heart Association - New York, NY : Association, Bd. 13 (2024), Heft 8, S. 1-14, Artikel e033287, insges. 14 S.

Nerve enlargement in patients with Noonan syndrome - a retrospective cohort study
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 194 (2024), Heft 11, Artikel e63810, insges. 11 S.

Cancer in multilineage mosaic RASopathies due to pathogenic variants in HRAS or KRAS - a systematic review and meta-analysis
In: Clinical cancer research - Philadelphia, Pa. [u.a.] : AACR, Bd. 30 (2024), Heft 22, S. 5116-5121

Rasopathy-associated mutation Ptpn11D61Y has age-dependent effect on synaptic vesicle recycling
In: Cellular and molecular neurobiology - Dordrecht : Springer Science + Business Media B.V, Bd. 44 (2024), Artikel 77, insges. 10 S.

Myhre syndrome in adulthood - clinical variability and emerging genotype-phenotype correlations
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 32 (2024), Heft 9, S. 1086-1094

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 32 (2024), Heft 8, S. 954-963

Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery - a proof-of-principle study
In: Scientific reports - [London] : Springer Nature, Bd. 14 (2024), Artikel 15335, insges. 10 S.

Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice
In: Cancer gene therapy - New York, NY : Nature Publ. Group, Bd. 31 (2024), Heft 6, S. 884-893

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Letter
In: Nature genetics - London : Macmillan Publishers Limited, part of Springer Nature, Bd. 56 (2024), Heft 6, S. 1080-1089, insges. 21 S.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 26 (2024), Heft 11, Artikel 101241, insges. 14 S.

Developmental effect of RASopathy mutations on neuronal network activity on a chip
In: Frontiers in cellular neuroscience - Lausanne : Frontiers Research Foundation, Bd. 18 (2024), Artikel 1388409, insges. 19 S.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 19 (2024), Artikel 213, insges. 14 S.

RAS-MAPK pathway mutations in congenital pulmonary airway malformations
In: American journal of respiratory and critical care medicine - New York, NY : American Thoracic Society, Bd. 209 (2024), Heft 10, S. 1266-1268

The 8th International RASopathies symposium - expanding research and care practice through global collaboration and advocacy
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 194 (2024), Heft 4, Artikel e63477, insges. 11 S.

Krebserkrankungen bei Menschen mit einer Intelligenzminderung in Deutschland - Prävalenzen, Genetik und Versorgungslage - Cancer in people with an intellectual disability in Germany - prevalence, genetics, and care situation
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz - Berlin : Springer, Bd. 67 (2024), Heft 3, S. 362-369

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia - genetic evidence of driver function and implications for diagnostic workup
In: British journal of haematology - Oxford [u.a.] : Wiley-Blackwell, Bd. 204 (2024), Heft 2, S. 595-605

Epilepsy in cardiofaciocutaneous syndrome - clinical burden and response to anti-seizure medication
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 194 (2024), Heft 2, S. 301-310

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition
In: Angiogenesis - Dordrecht [u.a.] : Springer Science + Business Media B.V, Bd. 27 (2024), Heft 4, S. 739-752

Differential methylation of OPRK1 in borderline personality disorder is associated with childhood trauma
In: Molecular psychiatry - [London] : Springer Nature, Bd. 29 (2024), Heft 12, S. 3734-3741, insges. 8 S.

Mikrobiomveränderungen in Gallengangsstents bei Patienten mit Gallengangserkrankungen
In: Die Innere Medizin - Berlin : Springer Medizin, Bd. 64 (2023), Heft Supplement, S. S26, Artikel PS023

Systematische Analyse von microRNA als potenzielle Biomarker im Stuhl und ein neuer Ansatz zur endogenen miRNA-Normalisierung
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.] : Thieme, Bd. 61 (2023), Heft 8, S. e425

Veränderungen des mukosalen Mikrobioms bei Patienten mit Anastomoseninsuffizienz nach Resektion von kolorektalen Karzinomen
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.] : Thieme, Bd. 61 (2023), Heft 8, S. e512-e513

Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 31 (2023), Heft Suppl 1, S. 233-234, Artikel EP12.054

Congenital and inherited anomalies of the pancreas
In: The pancreas , Fourth edition - Hoboken, NJ : John Wiley & Sons, Inc ; Beger, Hans G. *1936-* . - 2023, S. 23-31

Impact of the COVID-19 pandemic regulations on the health status and medical care of children with trisomy 21 - a parent survey in central Germany - Auswirkungen der COVID-19-Pandemie auf Gesundheitszustand und Versorgung von Kindern mit Trisomie 21 - eine Elternbefragung in Mitteldeutschland
In: Klinische Pädiatrie - Stuttgart : Thieme, Bd. 235 (2023), Heft 1, S. 31-37

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
In: Nature - London [u.a.] : Nature Publ. Group, Bd. 614 (2023), Heft 7948, S. 564-571

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues
In: Communications biology - London : Springer Nature, Bd. 6 (2023), Artikel 657, insges. 18 S.

Clinical outcome and quality of life of multimodal treatment of extracranial arteriovenous malformations - the APOLLON study protocol
In: CardioVascular and interventional radiology - Berlin : Springer, Bd. 46 (2023), Heft 1, S. 142-151

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
In: Clinical immunology - San Diego, Calif. : Elsevier, Bd. 256 (2023), Artikel 109777

Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy - validation of the HCM risk-kids model and predictors of events
In: International journal of cardiology - Amsterdam [u.a.] : Elsevier Science, Bd. 393 (2023), Artikel 131405, insges. 8 S.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1
In: Familial cancer - Dordrecht [u.a.] : Springer Science + Business Media B.V, Bd. 22 (2023), Heft 4, S. 475-480

Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum - report of three cases
In: Pediatric dermatology - Oxford [u.a.] : Wiley-Blackwell, Bd. 40 (2023), Heft 4, S. 691-694

Improvement of synaptic plasticity and cognitive function in RASopathies - a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)
In: Trials - London : BioMed Central, Bd. 24 (2023), Artikel 383, insges. 10 S.

In-vitro-Modellierung der Noonan-Syndrom-assoziierten Kardiomyopathie - Neue Einblicke in die myokardiale Pathophysiologie und Effekte der Inhibition des hyperaktiven RAS/MAPK-Signalwegs - In vitro modeling of Noonan syndrome-associated cardiomyopathy - new insights into the myocardial pathophysiology and effects of inhibition of the hyperactive RAS/MAPK signaling pathway
In: Zeitschrift für Herz-, Thorax- und Gefässchirurgie - Darmstadt : Steinkopff, Bd. 37 (2023), Heft 3/4, S. 164-171

Editorial - endocrine aspects of Noonan syndrome and related syndromes
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 13 (2023), Artikel 1127686, insges. 2 S.

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
In: Brain - Oxford : Oxford Univ. Press, Bd. 146 (2023), Heft 4, S. 1388-1402

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
In: Pediatrics and neonatology - [Singapore] : Elsevier, Bd. 64 (2023), Heft 2, S. 208-209

AKT/mTOR and MAPK inhibition improves childhood RASopathic cardiomyopathy
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 70 (2022), S 02, insges. 2 S.

Adrenocortical carcinoma (ACC) in an infant with Cushing's syndrome and virilization
In: "Connective (tissue) pathology: was uns verbindet!" - Berlin . - 2022, S. 470-471, Artikel P12.02

Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 30 (2022), Heft Suppl. 1, S. 355-356, Artikel P11.095.A

Staphylococcus aureus and Bifidobacterium longum are well recognized by T-cells with opposite results
In: European journal of immunology - Weinheim : Wiley-VCH, Bd. 52 (2022), Heft Suppl. 1, S. 265, Artikel P 129

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism
In: JEADV clinical practice - Hoboken, NJ : Wiley, Bd. 1 (2022), Heft 4, S. 416-419, insges. 4 S. [Online veröffentlicht: 14. September 2022]

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome - clinical presentation and associations with genotype
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 190 (2022), 4, S. 501-509

Clinical overview on RASopathies
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 190 (2022), 4, S. 414-424

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 43 (2022), 12, S. 1866-1871

Unusual findings in a patient with Carney complex due to a novel PRKAR1A mutation
In: Anticancer research - Attiki, Bd. 42 (2022), 12, S. 6121-6125

Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model
In: Frontiers in cell and developmental biology - Lausanne: Frontiers Media, 2013, Bd. 10 (2022), insges. 13 S.

WARS1 and SARS1 - two tRNA synthetases implicated in autosomal recessive microcephaly
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 43 (2022), 10, S. 1454-1471

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), 12

Noonan syndrome - improving recognition and diagnosis
In: Archives of disease in childhood - London: BMJ Publ. Group, 1926, Bd. 107 (2022), 12, S. 1073-1078

Fatal course of a benign mediastinal lipoblastoma in a 20-year-old woman
In: Pathology, research and practice - München : Elsevier, Bd. 239 (2022), Artikel 154161

Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 6 (2022), 6, S. 1-8

The seventh international RASopathies symposium - pathways to a cureexpanding knowledge, enhancing research, and therapeutic discovery
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 188 (2022), 6, S. 1915-1927

Recurrent mandibular giant cell lesion in neurofibromatosis type 1 - second hit mutation on the NF1 gene in the osseous lesion
In: Anticancer research - Attiki, 2004, Bd. 42 (2022), 6, S. 2945-2952

A case report - first long-term treatment with burosumab in a patient with cutaneous-skeletal hypophosphatemia syndrome
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Outcomes in growth hormone-treated Noonan syndrome children - impact of PTPN11 mutation status
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 11 (2022), 4, insges. 12 S.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype - a multinational cohort study
In: Genetics in medicine - Amsterdam: Elsevier, 1998, Bd. 24 (2022), 7, S. 1556-1566

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
In: Human molecular genetics - Oxford: Oxford Univ. Press, 1992, Bd. 31 (2022), 16, S. 2766-2778

Oral HRAS mutation in orofacial nevus sebaceous syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome) - a case report with a literature survey
In: In vivo - Kapandriti, Attiki: IIAR, 2004, Bd. 36 (2022), 1, S. 274-293

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 31 (2022), 1, S. 10-17

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 9 S.

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe - a sub-analysis of a European clinical practice survey
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 12 S.

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), Heft 5, S. 1-6, Artikel 104472

European Medical Education Initiative on Noonan syndrome - A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, 2005, Bd. 65 (2022), 1, insges. 10 S.

T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation
In: Frontiers in immunology - Lausanne : Frontiers Media, Bd. 13 (2022), Artikel 958616, insges. 15 S.

Gut microbial similarity in twins is driven by shared environment and aging
In: EBioMedicine - Amsterdam [u.a.] : Elsevier, Bd. 79 (2022), Artikel 104011, insges. 13 S.

Profiling of the bacterial microbiota along the murine alimentary tract
In: International journal of molecular sciences - Basel : Molecular Diversity Preservation International, Bd. 23 (2022), Heft 3, Artikel 1783, insges. 15 S.

Cardiac electrophysiological anomalies associated with a Noonan syndrome mutation in RAF1 can be rescued partially in vitro by inhibition of RAS/MAPK signaling pathway
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S01, insges. 2 S.

Noonan syndrome patients with short stature at a single pediatric endocrinology centre
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 338-339

The functional effects of the Rasopathy-related KRASV14l mutation in the brain
In: Neuroforum - Berlin: De Gruyter, 2003, Bd. 27 (2021), 1, Supplement, insges. 1 S.

Management of endocrine aspects of Noonan syndrome across Europe - a subanalysis of a European clinical practice survey
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 133-134

Opposing effects of Bifidobacterium longum and Staphylococcus aureus after recognition by paediatric T cells
In: European journal of immunology - Weinheim : Wiley-VCH, Bd. 51 (2021), Heft Suppl. 1, S. 350, Artikel P-0880

MEK-inhibition treatment with trametinib in a 7.7-year-old girl with Noonan's syndrome and life-threatening lymphangiopathy
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S02, insges. 1 S.

Noonan syndrome-associated hypertrophic cardiomyopathy caused by a mutation in RIT1 can be partially rescued by inhibition of RAS/MAPK signaling pathway in vitro
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 69 (2021), S01, insges. 1 S.

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 185 (2021), 10, S. 3122-3128

Eye tumors in childhood as first sign of tumor predisposition syndromes - insights from an observational study conducted in Germany and Austria
In: Cancers - Basel: MDPI, 2009, Bd. 13 (2021), 8, insges. 14 S.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 108 (2021), 11, S. 2112-2129

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 185 (2021), 12, S. 3623-3633

Galloway-Mowat syndrome - new insights from bioinformatics and expression during Xenopus embryogenesis
In: Gene expression patterns - Amsterdam [u.a.]: Elsevier, Bd. 42 (2021)

Mutations in PRDM15 are a novel cause of Galloway-Mowat syndrome
In: Journal of the American Society of Nephrology: JASN/ American Society of Nephrology - Washington, DC: American Society of Nephrology, Bd. 32 (2021), 3, S. 580-596

QRICH1 variants in Ververi-Brady syndrome - delineation of the genotypic and phenotypic spectrum
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 99 (2021), 1, S. 199-207

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
In: Clinical dysmorphology - Hagerstown, Md.: Lippincott Williams & Wilkins, Bd. 30 (2021), 2, S. 83-88

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
In: European journal of human genetics - Basingstoke : Stockton Press, Bd. 29 (2021), Heft 3, S. 524-527

Estimated prevalence of harmful alcohol consumption in pregnant and nonpregnant women in Saxony-Anhalt (NorthEast Germany) using biomarkers
In: Alcoholism - Oxford [u.a.] : Wiley-Blackwell, Bd. 45 (2021), Heft 4, S. 819-827

Aplasia cutis congenita in a CDC42-related developmental phenotype
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 185 (2021), 3, S. 850-855

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 29 (2021), 1, S. 51-60

Neurofibromatosis type 1 with cherubism-like phenotype, multiple osteolytic bone lesions of lower extremities, and Alagille-syndrome - case report with literature survey
In: In vivo: international journal of experimental and clinical pathophysiology and drug research - Kapandriti, Attiki: IIAR, 2004, Bd. 35 (2021), 3, S. 1711-1736

KRAS mutation in an implant-associated peripheral giant cell granuloma of the jaw - implications of genetic analysis of the lesion for treatment concept and surveillance
In: In vivo: international journal of experimental and clinical pathophysiology and drug research - Kapandriti, Attiki: IIAR, 2004, Bd. 35 (2021), 2, S. 947-953

Modelling Johanson-Blizzard syndrome in a dish
In: United european gastroenterology journal : Ueg journal - London : Sage , 2013 - Vol. 8.2020, 8, Suppl., P1031, S. 669

Characterization of the modulatory role of LZTR1 in the control of RAS-MAPK signaling
In: European journal of human genetics - Basingstoke: Stockton Press, 1998, Vol. 28.2020, Suppl. 1, P20.43.A, S. 749

Identification of a germline interstitial deletion in 14q32.13 in a child and mother with DICER1 syndrome
In: European journal of human genetics - Basingstoke: Stockton Press, 1998, Vol. 28.2020, Suppl. 1, P03.20.B, S. 212-213

Hereditäre Nephropathien
In: Rationelle Diagnostik und Therapie in der Inneren Medizin - Leitlinien-basierte Empfehlungen für die Praxis , Stand: Mai 2020 - München : Elsevier , 2020, insges. 8 S. [Stand November 2017]

Pathogenic PTPN11 variants involving the polyglutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation
In: Human mutation - New York, NY [u.a.] : Wiley-Liss, Bd. 41.2020, 6, S. 1171-1182

MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome
In: American journal of neuroradiology : AJNR - Oak Brook, Ill. : Soc., Bd. 41.2020, 10, S. 1943-1948

KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
In: JCI insight - Ann Arbor, Michigan : JCI Insight - Vol. 5.2020, 21, Art. e140495, insgesamt 17 Seiten

Development, behaviour and sensory processing in MarshallSmith syndrome and Malan syndrome - phenotype comparison in two related syndromes
In: Journal of intellectual disability research : JIDR ; official journal of MENCAP, the International Association for the Scientific Study of Intellectual Disability and the European Association for Mental Health and Mental Retardation - Oxford [u.a.] : Wiley-Blackwell, Bd. 64.2020, 12, S. 956-969

The sixth international RASopathies symposium - precision medicine : from promise to practice
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 182.2020, 3, S. 597-606

Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum
In: The American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 107.2020, 3, S. 499-513

Long-term culture of EBV-induced human lymphoblastoid cell lines reveals chromosomal instability
In: Journal of histochemistry & cytochemistry : JHC - London [u.a.] : Sage Publ., Bd. 68.2020, 4, S. 239-251

Systematized naevoid hypertrichosis may herald HappleTinschert syndrome. Letter to the editor
In: Journal of the European Academy of Dermatology and Venereology : JEADV / European Academy of Dermatology and Venereology - Oxford [u.a.] : Wiley-Blackwell - Bd. 34.2020, 3 S.e149-e151

Mosaic neurofibromatosis type 1 with multiple cutaneous diffuse and plexiform neurofibromas of the lower leg
In: Anticancer research : international journal of cancer research and treatment - Attiki, Bd. 40.2020, 6, S. 3423-3427

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 182.2020, 4, S. 773-779

The mosaic hedgehog spectrum - another lesson on the polymorphy of mosaicism
In: British journal of dermatology : BJD ; the journal of the British Association of Dermatologists - Oxford : Wiley-Blackwell, Bd. 182.2020, 1, S. 22-23

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 182 (2020), 7, S. 1681-1689

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
In: Human molecular genetics : HMG online - Oxford : Oxford Univ. Press, Bd. 29.2020, 11, S. 1772-1783

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany - a retrospective cohort study
In: British journal of cancer : BJC - Edinburgh : Nature Publ. Group, Bd. 123.2020, 4, S. 619-623

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
In: Nature Communications - [London] : Nature Publishing Group UK - 11(2020) Artikel-Nummer 4625, 12 Seiten [Gesehen am 17.11.2020]

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation
In: Journal of inherited metabolic disease : JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism - Hoboken, NJ : Wiley, Bd. 43.2020, 5, S. 1131-1142

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
In: Wellcome open research - London: Wellcome Trust, 2016, Bd. 4.2020, Art.-Nr. 149, insgesamt 20 Seiten

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 41 (2020), 9, S. 1615-1628

Genetic testing in inherited endocrine disorders - joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
In: Orphanet journal of rare diseases : OJRD - London : BioMed Central - Bd. 15.2020, Art.-Nr. 144, insgesamt 16 Seiten

Unravelling the genetic architecture in an extensive cohort of Adams-Oliver syndrome patients
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P11.009A, Seite 343-344

[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, FC9.6, S. 49

Rare diagnosis of autosomal-recessive Pitt-Hopkins-like syndrome 2 by microarray-analysis
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, E-P08.23, Seite 950

Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P04.83C, Seite 128

Scientific yield of clinical exome sequencing of neurodevelopmental disorders
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P08.74B, Seite 244-245

Adams-Oliver syndrome caused by mutations of the EOGT gene
In: American journal of medical genetics - New York, NY: Wiley-Liss, Bd. 179.2019, 11, S. 2246-2251

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd.62.2019, Art.-Nr. 103608

The landscape of epilepsy-related GATOR1 variants
In: Genetics in medicine - Amsterdam: Elsevier, 1998, Bd. 21 (2019), 2, S. 398-408

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome. Letter to the editor
In: Pigment cell & melanoma research - Oxford [u.a.]: Wiley-Blackwell, Bd. 32.2019, 3, S. 470-473

Activating mutations of RRAS2 are a rare cause of Noonan syndrome
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 104 (2019), 6, S. 1223-1232

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
In: The journal of biological chemistry - Bethesda, Md.: ASBMB Publications, 1905, Bd. 27 (2019), 7, S. 1061-1071

Food-derived xeno-microRNAs - influence of diet and detectability in gastrointestinal tract : proof-of-principle study
In: Molecular nutrition & food research - Weinheim : Wiley-VCH - Bd. 63.2019, 2, Art.-Nr. 1800076, insges. 11 S.

Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children
In: Genes, chromosomes & cancer - New York, NY: Wiley-Liss, Bd. 58 (2019), 10, S. 723-730

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 28.2019, 6, S. 1007-1022

Genetic basis of hypertrophic cardiomyopathy in children
In: Clinical research in cardiology - Berlin: Springer, Bd. 108.2019, 3, S. 282-289

Identifying facial phenotypes of genetic disorders using deep learning
In: Nature medicine - New York, NY: Nature America Inc., Bd. 25.2019, 1, S. 60-64

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 7.2019, 5, Art.-Nr. e625, insges. 12 S.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 179.2019, 5, S. 832-836

Cubilin single nucleotide polymorphism variants are associated with macroangiopathy while a matrix metalloproteinase-9 single nucleotide polymorphism flip-flop may indicate susceptibility of diabetic nephropathy in type-2 diabetic patients
In: Nephron - Basel: Karger, Bd. 141.2019, 3, S. 156-165

Variants in nuclear factor I genes influence growth and development
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 181.2019, 4, S. 611-626

Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy
In: Cardiovascular Diagnosis and Therapy - Hangzhou, 2011, Bd.9.2019, Suppl. 2, S. S299-S309

ADA2 deficiency in a patient with Noonan syndromelike disorder with loose anagen hair - the cooccurrence of two rare syndromes
In: American journal of medical genetics - New York, NY: Wiley-Liss, Bd. 179.2019, 12, S. 2474-2480

Germline GAB2 mutations in childhood acute lymphoblastic leukemia
In: Blood - Washington, DC: American Society of Hematology, 1946, Bd. 132.2018, Suppl. 1, S. 388

Inherited disorders of the Ras-MAPK pathway
In: Blood - Washington, DC: American Society of Hematology, 1946, Bd. 132.2018, Suppl. 1, Abs. SCI-41

Atypische Präsentation einer nephropathischen Cystinose mit langsam progredienter Niereninsuffizienz und ausgeprägter Osteomalazie bei einem Patienten syrischer Herkunft
In: Der Internist - Berlin: Springer, Bd. 59.2018, Suppl.1, PS121, Seite S55

Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture
In: PLOS ONE - San Francisco, California, US: PLOS, 2006, Bd. 13.2018, 3, Art.-Nr. e0192652, insges. 22 S.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 2, S. 470-476

Skeletal impairment in Pierson syndrome - is there a role for laminin[beta]2 in bone physiology?
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 106.2018, S. 187-193

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
In: European journal of human genetics : the official journal of the European Society of Human Genetics - Basingstoke : Stockton Press, Bd. 26.2018, 2, S. 197-209

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
In: PLoS Genetics - San Francisco, Calif: Public Library of Science, Bd. 14.2018, 5, Art.-Nr. e1007370, insges. 28 S.

A postzygotic SMO mutation caused the original case of HappleTinschert syndrome
In: Acta dermato-venereologica: a journal for clinical and experimental research in the field of dermatology and venereology - Uppsala: Acta Dermato-Venereologica, Bd. 98.2018, 5, S. 534-535

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 6, S. 630-638

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 39.2018, 9, S. 1246-1261

Further delineation of Malan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 39 (2018), 9, S. 1226-1237, insges. 12 S.

Functional dysregulation of CDC42 causes diverse developmental phenotypes
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 102.2018, 2, S. 309-320

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
In: Nature Communications - [London]: Nature Publishing Group UK, Bd. 9.2018, Art.-Nr. 1960, insges. 14 S.

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 39.2018, 11, S. 1485-1493

Unrecognized juvenile nephropathic cystinosis
In: Kidney international: official journal of the International Society of Nephrology - New York, NY: Elsevier, Bd. 94.2018, 5, S. 1027

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 103.2018, 5, S. 752-768

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 10, S. 1175-1185

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 9, S. 965-975

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling
In: Cell communication and signaling - London : Biomed Central - Bd. 16.2018, Art.-Nr. 96, insges. 14 S.

Galloway-Mowat syndrome in Taiwan - OSGEP mutation and unique clinical phenotype
In: Orphanet journal of rare diseases - London: BioMed Central, Bd. 13.2018, Art.-Nr. 226, insges. 9 S.

ClinGens RASopathy expert panel consensus methods for variant interpretation
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 11, S. 1334-1345

Proceedings of the fifth international RASopathies symposium - when development and cancer intersect
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 12, S. 2924-2929

Destroying a myth LCLs are neither immortal nor karyotypically stable but acquire trisomy 12 as an early recurrent aberration
In: Molecular cytogenetics - London: BioMed Central, 2008, Bd. 10.2017, Suppl. 1, 8.P4, S. 72

Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling
In: Gut: an international journal of gastroenterology and hepatology - London: BMJ Publishing Group, 1960, Bd. 66.2017, 3, S. 473-486

Genetic polymorphisms as predictive markers of response to growth hormone therapy in children with growth hormone deficiency
In: Klinische Pädiatrie - Stuttgart: Thieme, Bd. 229 (2017), 5, S. 267-273

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation
In: Cell death and differentiation - Houndmills, Basingstoke : Nature Publishing Group, Bd. 24 (2017), Heft 10, S. 1739-1749

Behavioral and neural manifestations of reward memory in carriers of low-expressing versus high-expressing genetic variants of the dopamine D2 receptor
In: Frontiers in psychology - Lausanne : Frontiers Research Foundation - Bd. 8.2017, Article 654, insges. 13 S.

Short fragment approach for genotyping KRAS and BRAF genes in Tunisian patients with colorectal cancer
In: International journal of clinical and experimental medicine - Madison, Wis: e-Century Publishing Corporation, 2008, Bd. 10 (2017), 3, S. 5160-5167

Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in JohansonBlizzard syndrome - development of hypothyroidism during infancy
In: Journal of clinical neonatology - Mumbai: Medknow Publ, 2012, Bd. 6 (2017), 3, S. 179-181

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
In: The journal of clinical investigation - Ann Arbor, Mich: ASCJ, 1924, Bd. 127.2017, 3, S. 912-928

Barber-Say syndrome and ablepharon-macrostomia syndrome - a patient's view
In: Molecular syndromology - Basel: Karger, 2010, Bd. 8 (2017), 4, S. 172-178

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
In: Scientific reports - [London]: Macmillan Publishers Limited, part of Springer Nature, 2011, Bd. 7.2017, Art.-Nr. 12225, insges. 6 S.

Childhood cancer predisposition syndromes - a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 173.2017, 4, S. 1017-1037

Genotype and phenotype spectrum of NRAS germline variants
In: European journal of human genetics : the official journal of the European Society of Human Genetics - Basingstoke : Stockton Press, Bd. 25.2017, 7, S. 823-831

Novel FREM1 mutations in a patient with MOTA syndrome - clinical findings, mutation update and review of FREM1-related disorders literature
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 60 (2017), 3, S. 190-194

Structural, functional, and clinical characterization of a novel PTPN11 mutation cluster underlying Noonan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 38 (2017), 4, S. 451-459

Expanding the mutational spectrum in Johanson-Blizzard syndrome - identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 5 (2017), 6, S. 774-780

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy
In: PLoS Genetics/ Public Library of Science - San Francisco, Calif.: Public Library of Science, 2005, Bd. 13.2017, 3, Art.-Nr. e1006684, insges. 37 S.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Letters
In: Nature genetics - London: Macmillan Publishers Limited, part of Springer Nature, Bd. 49 (2017), 10, S. 1529-1544

Modeling LEOPARD syndrome-associated hypertrophic cardiomyopathy in vitro using patient-derived iPSC cardiomyocytes in 2D and 3D
In: Heart failure: genetics, genomics and epigenetics joint with the meeting on cardiac development, regeneration and repair: April 37, 2016, Snowbird Resort, Snowbird, Utah,| USA, 2016, (2016), Abs. Z2 1012, insges. 1 S.

Simplified culture conditions and scalable cardiac differentiation of rat induced pluripotent stem cells for syngeneic myocardial reconstruction models
In: European surgical research - official journal of the European Society for Experimental Surgery: official journal of the European Society for Experimental Surgery - Basel [u.a.]: Karger, 1969, Bd. 57 (2016), 3/4, S. 325-326

Rat induced pluripotent stem cells for myocardial reconstruction
In: The thoracic and cardiovascular surgeon - Stuttgart: Thieme, 1953, Bd. 64.2016, S01, Abs. OP263, insges. 1 S.

In vitro modelling of LEOPARD syndrome-associated hypertrophic cardiomyopathy using patient derived induced pluripotent stem cells
In: Cardiac Physiology and Experimental Cardiology Workshop 2016: Freitag 16. September - Samstag 17. September/ Cardiac Physiology and Experimental Cardiology Workshop, 2016 . - 2016, S. 14

RASopathien
In: Medizinische Genetik - Berlin: Springer, 1998, Bd. 28.2016, 1, S. 15-38

AB0 blood type B and fucosyltransferase 2 non-secretor status as genetic risk factors for chronic pancreatitis. Letter
In: Gut: an international journal of gastroenterology and hepatology - London: BMJ Publishing Group, Bd. 65 (2016), 2, S. 353-354

Surgery in focal congenital hyperinsulinism (CHI) - the Hyperinsulinism Germany International experience in 30 children
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd., Bd. 14 (2016), 2, S. 129-137

Germline RRAS2 mutations are not associated with Noonan syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 53 (2016), 11, S. 728

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
In: Genetics in medicine: official journal of the American College of Medical Genetics - London, UK: Springer Nature, Bd. 18 (2016), 12, S. 1226-1234, insges. 9 S.

Response to Calgani et al.Letter to the editor
In: Genetics in medicine: official journal of the American College of Medical Genetics - London, UK: Springer Nature, 1998, Bd. 18.2016, 12, S. 1321

Oblique facial clefts in JohansonBlizzard syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 170 (2016), 6, S. 1495-1501

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
In: Pediatric nephrology - Berlin: Springer, Bd. 31 (2016), 1, S. 73-81

Remission of congenital hyperinsulinism following conservative treatment - an exploratory study in patients with KATP channel mutations
In: The journal of pediatric endocrinology and metabolism - Berlin [u.a.]: de Gruyter, Bd. 29 (2016), 3, S. 281-287

Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family
In: Clinical dysmorphology - Hagerstown, Md: Lippincott Williams & Wilkins, Bd. 25 (2016), 4, S. 181-185

EPG5-related Vici syndrome - a paradigm of neurodevelopmental disorders with defective autophagy
In: Brain - Oxford: Oxford Univ. Press, 1878, Bd. 139 (2016), 3, S. 765-781, insges. 17 S.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 90 (2016), 4, S. 334-342

Morbus Osler - mehr als nur Nasenbluten
In: Der Internist - Berlin: Springer, 1996, Bd. 57.2016, 6, S. 610-615

STXBP1 encephalopathy - a neurodevelopmental disorder including epilepsy
In: Neurology - Philadelphia, Pa: Wolters Kluwer, Bd. 86 (2016), 10, S. 954-962

Loss-of-function variants in HIVEP2 are a cause of intellectual disability
In: European journal of human genetics - Basingstoke: Stockton Press, Bd. 24 (2016), 4, S. 556-561

Modeling congenital hypertrophic cardiomyopathies with iPS cell-based 3-dimensional bioartificial cardiac tissue
In: The thoracic and cardiovascular surgeon: official organ of the German Society for Thoracic and Cardiovascular Surgery - Stuttgart: Thieme, Bd. 63.2015, S1, OP157, insges. 1 S.

A novel mutation in the FRAS1 gene in a patient with Fraser syndrome
In: Genetic counseling: medical, psychological and ethical aspects - Genève: Ed. Médecine et Hygiène, Bd. 26 (2015), 1, S. 21-27

Visual pathways in humans with ephrin-B1 deficiency associated with the cranio-fronto-nasal syndrome
In: Investigative ophthalmology & visual science - Rockville, Md: ARVO, 1977, Bd. 56.2015, 12, S. 7427-7437

Das Noonan-Syndrom
In: Lymphologie in Forschung und Praxis: Organ der Deutschen Gesellschaft für Lymphologie (DGL), der Gesellschaft Deutschsprachiger Lymphologen e.V. (GDL) und der Gesellschaft für Manuelle Lymphdrainage nach Dr. Vodder und Sonstige Lymphologische Therapien e.V. (Österreich) (GfMLV) - Köln: Viavital-Verl, Bd. 19.2015, 2, S. 92-98

Two novel UBR1 gene mutations in a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
In: Gene: an international journal on genes, genomes and evolution - Amsterdam: Elsevier, Bd. 570 (2015), 1, S. 153-155

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 2, S. 385-388

Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies
In: Circulation / Cardiovascular genetics - Philadelphia, Pa: Lippincott, Williams & Wilkins, Bd. 8 (2015), 4, S. 572-581

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
In: Journal of the American Society of Nephrology - Washington, DC: American Society of Nephrology, Bd. 26 (2015), 6, S. 1279-1289

Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 97 (2015), 3, S. 475-482

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 36.2015, 6, S. 593-598

Multiple small supernumerary marker chromosomes resulting from maternal meiosis I or II errors
In: Molecular syndromology - Basel: Karger, 2010, Bd. 6.2015, 5, S. 210-221

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 11, S. 1080-1087

Copy number variants including RAS pathway genes - How much RASopathy is in the phenotype?
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167.2015, 11, S. 2685-2690

Molecular diversity and associated phenotypic spectrum of germline CBL mutations
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 8, S. 787-796

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
In: British journal of cancer: BJC - Edinburgh: Nature Publ. Group, Bd. 112.2015, 8, S. 1392-1397

Recurrent mutations in the basic domain of TWIST2 cause Ablepharon macrostomia and Barber-Say syndromes
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 97 (2015), 1, S. 99-110

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo
In: The EMBO journal - Heidelberg: EMBO Press, Bd. 34.2015, 8, S. 1056-1077

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 23.2015, 3, S. 409-412

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, Bd. 36 (2015), 11, S. 1021-1028

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
In: The journal of clinical investigation: JCI ; the publication of the American Society for Clinical Investigation - Ann Arbor, Mich.: ASCJ, Bd. 125 (2015), 9, S. 3585-3599

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. Letter to the editor
In: Journal of the neurological sciences: official journal of the World Federation of Neurology - Amsterdam [u.a.]: Elsevier Science, Bd. 358 (2015), 1/2, S. 515-517

Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study
In: Gut - London: BMJ Publishing Group, Bd. 64 (2015), 4, S. 646-656

Corrigendum - Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression
In: Frontiers in systems neuroscience - Lausanne : Frontiers Research Foundation - Bd. 9.2015, Art.-Nr. 36, insges. 2 S.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 4, S. 744-751

Recent developments in neurofibromatoses and RASopathies - Management, diagnosis and current and future therapeutic avenues
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 1, S. 1-10

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167 (2015), 2, S. 394-399

Fucosyltransferase 2 (FUT2) "non-secretor"-Status und Blutgruppe B sind assoziiert mit erhöhter Serum Lipase Aktivität und einem erhöhten Risiko für die chronische Pankreatitis - eine genetische Assoziationsstudie
In: Zeitschrift für Gastroenterologie - Stuttgart [u.a.]: Thieme, 1997, Bd. 52.2014, Nr. 8, KG039, insges. 1 S.

Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgery
In: Biomarkers in medicine - London: Future Medicine, Bd. 8 (2014), 10, S. 1227-1238

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164.2014, 12, S. 3213-3214

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
In: The American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 95 (2014), Heft 3, S. 285-293

Juvenile myelomonocytic leukaemia and Noonan syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, 1964, Bd. 51.2014, 10, S. 689-697

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 5, S. 521-531

Johanson-Blizzard syndrome - a report of gender-discordant twins with a novel UBR1 mutation
In: Genetics and molecular research - Ribeirão Preto: FUNPEC, 2002, Bd. 13.2014, 2, S. 4159-4164

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression
In: Frontiers in systems neuroscience - Lausanne : Frontiers Research Foundation - Bd. 8.2014, Art.-Nr. 140, insges. 12 S.

Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory
In: Frontiers in human neuroscience - Lausanne : Frontiers Research Foundation - Bd. 8.2014, Art.-Nr. 260, insges. 12 S.

Mutagenní vliv vyššího věku otcu u neurokardiofaciokutánního syndromu
In: asopis léka°u eských / eská Lékaská Spolenost Jana Evangelisty Purkyn - Praha: Česká Lékařská Společnost J. E. Purkyně, 1862, Bd. 153.2014, 5, S. 242-245

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger - from developmental endocrinology to clinical research, Bd. 81 (2014), 3, S. 156-168

Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome - Erfahrungen aus Hamburg
In: Medizinische Genetik - Berlin: Springer, 1998, Bd. 26.2014, 2, S. 246-254

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
In: Human molecular genetics - Oxford: Oxford Univ. Press, 1992, Bd. 23.2014, 16, S. 4315-4327

Deletions in the 3' part of the NFIX gene including a recurrent alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 9, S. 1092-1100

Clinical and molecular findings of Tunisian patients with RASopathies
In: Molecular syndromology - Basel: Karger, Bd. 5 (2014), 5, S. 212-217

Johanson-Blizzard syndrome - Hepatic and hematological features with novel genotype
In: Indian journal of gastroenterology - [New Delhi]: Springer India, 1982, Bd. 33.2014, 1, S. 82-84

Fraser syndrome due to mutations in GRIP1 - clinical phenotype in two families and expansion of the mutation spectrum
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164A.2014, 3, S. 837-840

Clinical utility gene card for: Johanson-Blizzard syndrome
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 22.2014, 1, insges. 3 S.

Pathognomonische Kasuistik des Morbus Osler-Weber-Rendu-Syndroms
In: Der Internist: Organ des Berufsverbandes Deutscher Internisten ; Organ der Deutschen Gesellschaft für Innere Medizin - Berlin: Springer Medizin, 1960, Bd. 54.2013, Suppl. 1, P162, S. 79

Aufmerksamkeitsabhängige Induktion synaptischer Plastizität bei gesunden Probanden und Patienten mit Noonan Syndrom
In: Klinische Neurophysiologie - Stuttgart [u.a.] : Thieme - Bd. 44.2013, 1, P29, insges. 1 S.

Attention dependent induction of synaptic plasticity in healthy controls and patients with Noonan syndrome
In: Clinical neurophysiology - Amsterdam [u.a.]: Elsevier Science, 1999, Bd. 124.2013, 10, P 167, S. e143-e144

Fehlbildungen
In: Fetoneonatale Neurologie - Erkrankungen des Nervensystems von der 20. SSW bis zum 20. Lebensmonat: Erkrankungen des Nervensystems von der 20. SSW bis zum 20. Lebensmonat - Stuttgart [u.a.]: Thieme, 2013 . - 2013, S. 175-216

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
In: Behavioral and brain functions - London: BioMed Central, Bd. 9 (2013), S. 1-11, insges. 11 S.

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1
In: BMC neurology - London: BioMed Central, Bd. 13.2013, Art.-Nr. 131, insges. 12 S.

Clinical and molecular analysis of RASopathies in a group of Turkish patients
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 83.2013, 2, S. 181-186

Impaired motor cortex plasticity in patients with Noonan syndrome
In: Clinical neurophysiology - Amsterdam [u.a.]: Elsevier Science, Bd. 124 (2013), 12, S. 2439-2444

Ablepharon macrostomia syndrome - a distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 161.2013, 12, S. 3012-3017

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 161.2013, 4, S. 889-891

A puzzle over several decades - eye anomalies with FRAS1 and STRA6 mutations in the same family
In: Clinical genetics - Oxford: Wiley-Blackwell, Bd. 83.2013, 2, S. 162-168

Identification of genetic loci associated with Helicobacter pylori serologic status
In: The journal of the American Medical Association/ American Medical Association - Chicago, Ill.: American Medical Association, Bd. 309 (2013), 18, S. 1912-1920

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS - new aspects of the molecular pathogenesis underlying Costello syndrome
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 22.2013, 8, S. 1643-1653

Johanson-Blizzard syndrome
In: Indian pediatrics - New Delhi: Indian Academy of Pediatrics, Bd. 50 (2013), 5, S. 510-512

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes
In: Human molecular genetics: HMG online - Oxford: Oxford Univ. Press, Bd. 22.2013, 2, S. 262-270

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 56 (2013), 2, S. 108-113

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type. Letter to the editor
In: Nefrología - Madrid: Grupo Aula Medica, Bd. 33 (2013), 5, S. 747-749

Mutations in GRIP1 cause Fraser syndrome
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 49 (2012), 5, S. 303-306

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
In: Clinical genetics: an international journal of genetics in medicine - Oxford: Wiley-Blackwell, Bd. 81 (2012), 6, S. 590-594

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: A clinical, molecular, and immunohistochemical approach
In: Pediatric and developmental pathology - Los Angeles: Sage, Bd. 15 (2012), 1, S. 50-57

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
In: Pediatric nephrology - Berlin: Springer, Bd. 27 (2012), 5, S. 865-868

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 55 (2012), 11, S. 615-619

Bleeding diathesis in Noonan syndrome: Is acquired von Willebrand syndrome the clue?
In: Thrombosis research - Amsterdam [u.a.]: Elsevier Science, Bd. 130.2012, 5, S. e251-e254

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype
In: Child's nervous system. - Berlin : Springer, Bd. 28.2012, 12, S. 2181-2183

Infantile nephrotic syndrome with microcephaly and global developmental delay: The Galloway Mowat Syndrome
In: Indian journal of pediatrics. - [S.l.] : Springer, Bd. 79.2012, 8, S. 1087-1090

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
In: Human mutation. - Hoboken, NJ : Wiley-Blackwell, Bd. 33.2012, 4, S. 665-673

NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome
In: Nefrología - Madrid: Paz Montalvo, Bd. 32 (2012), 5, S. 674-676

A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development
In: Clinical dysmorphology - Hagerstown, Md.: Lippincott Williams & Wilkins, Bd. 21 (2012), 2, S. 74-76

Oligohydramnios associated with sonographically normal kidneys
In: Urology - New York, NY: Elsevier Science Inc., Bd. 79 (2012), 5, S. 1155-1157

MOTA Syndrome: Molecular genetic confirmation of the diagnosis in a newborn with previously unreported clinical features
In: Molecular syndromology - Basel: Karger, Bd. 3 (2012), 3, S. 136-139

Neonatal progeria - increased ratio of progerin to lamin A leads to progeria of the newborn
In: European journal of human genetics. - Houndmills, Basingstoke : Nature Publ. Group, Bd. 20.2012, 9, S. 933-937

Health and quality of life in adults with Noonan syndrome
In: The journal of pediatrics - New York, NY: Elsevier, Bd. 161 (2012), 3, S. 501-505

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
In: European journal of pediatrics. - Berlin : Springer, Bd. 170.2011, 2, S. 233-235

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
In: Genetic counseling. - Genève : Ed. Médecine et Hygiène, Bd. 22.2011, 3, S. 233-244

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
In: Journal of medical genetics. - London : BMJ Publishing Group, Bd. 48.2011, 6, S. 375-382

NEK1 mutations cause short-rib polydactyly syndrome type Majewski
In: American journal of human genetics - New York, NY [u.a.] : Cell Press, Bd. 88 (2011), Heft 1, S. 106-114

Noonan syndrome and clinically related disorders
In: Best practice & research. - Amsterdam : ElsevierBest practice & research / Clinical endocrinology & metabolism, Bd. 25.2011, 1, S. 161-179

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
In: American journal of medical genetics. - Hoboken, NJ : Wiley-LissAmerican journal of medical genetics / C, Bd. 157.2011, 2, S. 129-135

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
In: Current opinion in pediatrics. - Philadelphia, Pa : Lippincott Williams & Wilkins, Bd. 23.2011, 4, S. 443-451

Le syndrome de Pierson, Michel Pierson
In: Archives de pédiatrie. - Paris : Editions Scientifiques Elsevier, Bd. 18.2011, 11, S. 1127-1129

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
In: PLOS ONE - San Francisco, California, US : PLOS - Bd. 6.2011, 9, Artikel-Nr. e24925, insges. 10 S.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
In: The journal of clinical investigation. - Ann Arbor, Mich : American Society for Clinical Investigation, Bd. 121.2011, 5, S. 2013-2024

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndromelike phenotype and hyperactivated MAPK signaling in humans and mice
In: The journal of clinical investigation - Ann Arbor, Mich. : American Society for Clinical Investigation, Bd. 121 (2011), Heft 9, S. 3479-3491

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
In: Human mutation - Hoboken, NJ : Wiley-Blackwell, Bd. 32 (2011), Heft 1, S. 33-43

Eponym - Johanson-Blizzard syndrome
In: European journal of pediatrics. - Berlin : Springer, Bd. 170.2011, 2, S. 179-183

Johanson-Blizzard syndrome
In: World journal of gastroenterology. - Beijing : WJG Press [u.a.], Bd. 17.2011, 37, S. 4247-4250

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
In: American journal of medical genetics. - Hoboken, NJ : Wiley-LissAmerican journal of medical genetics / A, Bd. 155.2011, 10, S. 2601-2604

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
In: American journal of human genetics. - New York, NY [u.a.] : Cell Press, Bd. 88.2011, 5, S. 574-585

Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
In: Pädiatrische Praxis. - München : Marseille, Bd. 77.2011, 2, S. 333-350

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 53 (2010), Heft 5, S. 322-324

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
In: American journal of human genetics: AJHG / American Society of Human Genetics - New York, NY [u.a.]: Cell Press, Bd. 87 (2010), Heft 2, S. 250-257

The face of Noonan syndrome: does phenotype predict genotype
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 8, S. 1960-1966

A restricted spectrum of NRAS mutations causes Noonan syndrome
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 1, S. 27-29

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
In: Nature genetics - New York, NY: Springer Nature, Bd. 42 (2010), Heft 11, S. 1021-1026, insges. 6 S.

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
In: Blood: the journal of hematology / American Society of Hematology. William Dameshek, founding ed. - Washington, DC: American Society of Hematology, Bd. 115 (2010), Heft 4, S. 913

Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
In: International urology and nephrology - Dordrecht [u.a.] : Springer Science + Business Media B.V., Bd. 42 (2010), Heft 4, S. 1131-1134

Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
In: Human mutation: variation, databases, and disease / Human Genome Variation Society - Hoboken, NJ: Wiley-Blackwell, Bd. 31 (2010), Heft 9, S. 992-1002

Phenotype and natural history in Marshall-Smith syndrome
In: American journal of medical genetics / A - Hoboken, NJ: Wiley-Liss, Bd. 152 (2010), Heft 11, S. 2714-2726

Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
In: Medizinische Genetik: Organ der Deutschen Gesellschaft für Humangenetik e.V. - Berlin: de Gruyter, Bd. 22 (2010), Heft 1, S. 10-19

SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
In: Pediatr Res. 2009; 65:564-8

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
In: Cases J 2009; 2:94.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
In: Eur J Hum Genet. 2009; 17:395-400.

Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
In: J Med Gent. 2009; 46:598-606

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
In: Êur. J Hum Geneti. 2009; 17:1207-15.

Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
In: Am J Med Gener A. 2009; 149A: 1036-40

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
In: Eur J Med Gent. 2009; 52:337-40.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
In: Am J Med Gent A. 2009; 149A:1263-7.

The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
In: Am J Med Gent A. 2009; 149A:1860-81.

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
In: J Mol Med. 2009; 87:849-57.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
In: Nat Genet. 2009; 41:1022-6

Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
In: Am J Med Genet A. 2009; 149A:2122-8.

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
In: Am J. Med Genet A. 2009; 149A:2236-40

A restricted spectrum of NRAS mutations causes Noonan Syndrome.
In: Nat Genet. Epub 2009 Dec 6.

Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
In: Exp Clin Endocrinol Diabetes

Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
In: Eur J Hum Genet.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders
In: Hormone research - Basel : Karger - Bd. 72.2009, Suppl. 2, S. 57-63