Juliane Hoyer

发表

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

M. Kuhlen, A. Kelsey, F. Lalloo, 2021, Familial Cancer.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Familial acute aortic dissection associated with a novel ACTA2 germline variant

S. Rudnik-Schöneborn, M. Weyand, A. Agaimy, 2022, Virchows Archiv.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

H. Dietz, O. Başpınar, M. Earing, 2010, European Journal of Human Genetics.

Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data

M. Lux, M. Beckmann, P. Fasching, 2018, Geburtshilfe und Frauenheilkunde.

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

M. Lux, M. Beckmann, P. Fasching, 2017, International journal of cancer.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2

C. Hack, L. Distel, M. Ruebner, 2023, Current issues in molecular biology.

Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer.

M. Lux, M. Beckmann, L. Häberle, 2017, Breast.

Breast MRI texture analysis for prediction of BRCA-associated genetic risk

Georgia Vasileiou, Maria J. Costa, Christopher Long, 2020, BMC Medical Imaging.

Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot

A. Rauch, C. Zweier, J. Hoyer, 2009, Journal of Medical Genetics.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

T. Strom, A. Ekici, M. Reuter, 2017, JAMA psychiatry.

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

A. Ekici, H. Dörr, C. Thiel, 2008, European journal of medical genetics.

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

A. Ekici, A. Reis, C. Zweier, 2015, American journal of human genetics.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

A. Reis, A. Rauch, C. Zweier, 2012, Molecular Syndromology.

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome

D. Wieczorek, F. Degenhardt, C. Zweier, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

D. Horn, D. Wieczorek, F. Degenhardt, 2013, Journal of Medical Genetics.

De novo mutations in the genome organizer CTCF cause intellectual disability.

Heinrich Sticht, Georgia Vasileiou, Juliane Hoyer, 2013, American journal of human genetics.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Dagmar Wieczorek, Juliane Hoyer, Ute Moog, 2009, European Journal of Human Genetics.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

TRIM28 haploinsufficiency predisposes to Wilms tumor

M. Gessler, A. Ekici, R. Kuiper, 2019, International journal of cancer.

Psychiatric Disorders and Distal 21q Deletion—A Case Report

J. Hoyer, W. Briegel, Juliane Hoyer, 2020, International journal of environmental research and public health.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

H. Mefford, Y. Marie, S. Sisodiya, 2016, Journal of Medical Genetics.

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

D. Steinemann, B. Burkhardt, S. Pfister, 2017, American journal of medical genetics. Part A.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

E. Schröck, A. Ekici, D. Wieczorek, 2012, American journal of human genetics.

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome

E. Kasper, D. Wieczorek, A. Dörfler, 2017, Epilepsy & Behavior.

Exome Pool-Seq in neurodevelopmental disorders

A. Ekici, C. Thiel, A. Reis, 2017, European Journal of Human Genetics.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

M. Shaw, J. Gécz, A. Reis, 2016, Journal of Medical Genetics.

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients

M. Bani, M. Lux, M. Beckmann, 2018, Breast Cancer Research and Treatment.

Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center

R. Stöhr, N. Meidenbauer, E. Moskalev, 2023, Cancers.

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene

R. Fahsold, M. Zenker, A. Rauch, 2006, American journal of medical genetics. Part A.

Rare Copy Number Variants Are a Common Cause of Short Stature

Dagmar Wieczorek, Juliane Hoyer, Arif B. Ekici, 2013, PLoS genetics.

Comprehensive genotype e phenotype analysis in 230 patients with tetralogy of Fallot

A. Rauch, C. Zweier, J. Hoyer, 2022 .

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

Georgia Vasileiou, Juliane Hoyer, Marius Wunderle, 2018, BMC Cancer.

Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

A. Ekici, C. Thiel, A. Reis, 2019, Prenatal diagnosis.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

A. Ekici, C. Thiel, A. Reis, 2019, bioRxiv.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

H. Mefford, Y. Marie, S. Sisodiya, 2016, Journal of Medical Genetics.

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

A. Ekici, F. Rüschendorf, C. Becker, 2007, Journal of Medical Genetics.

Paediatric Cancer Predisposition Documentation Tool – Standardized Reporting Form for Children and Adolescents With Suspected Cancer Predisposition Syndrome

A. Borkhardt, M. Schrappe, M. Kuhlen, 2021 .

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

M. Beckmann, A. Hartmann, A. Agaimy, 2019, bioRxiv.