G. Yigit

发表

Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism

P. Nürnberg, Shahida Moosa, Helena Böhrer-Rabel, 2017, American journal of medical genetics. Part A.

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy

C. Lenz, G. Hasenfuss, P. Nürnberg, 2020, Circulation.

Mutations in WNT1 cause different forms of bone fragility.

S. Mundlos, K. Garcia, P. Krawitz, 2013, American journal of human genetics.

ALX4 dysfunction disrupts craniofacial and epidermal development.

E. Uz, H. Kayserili, G. Yigit, 2009, Human molecular genetics.

Heterozygous Truncating Variants in SUFU Cause Congenital Ocular Motor Apraxia

E. Boltshauser, G. Yigit, B. Wollnik, 2021, Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

N. Elçioglu, P. Nürnberg, J. Altmüller, 2015, Human molecular genetics.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

C. López-Otín, R. Hennekam, G. Velasco, 2018, Journal of Medical Genetics.

RNF43 pathogenic Germline variant in a family with colorectal cancer

Joanne P Young, H. Scott, A. Zibat, 2021, Clinical genetics.

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.

P. Frommolt, P. Nürnberg, J. Altmüller, 2012, American journal of human genetics.

Biallelic variants in YRDC cause a developmental disorder with progeroid features

D. Wieczorek, S. Lehnart, P. Nürnberg, 2021, Human Genetics.

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

S. Wortmann, E. Boltshauser, J. Altmüller, 2020, Genetics in Medicine.

Decision letter for "RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer"

Joanne P Young, H. Scott, A. Zibat, 2021 .

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

Epstein-Barr virus LMP2A signaling in statu nascendi mimics a B cell antigen receptor-like activation signal

Christoph H Emmerich, Christoph H. Emmerich, D. Schild, 2012, Cell Communication and Signaling.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

D. Horn, S. Mundlos, T. Mielke, 2017, American journal of human genetics.

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

P. Nürnberg, W. Zimmermann, J. Altmüller, 2022, Frontiers in Cell and Developmental Biology.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

Human RAD50 deficiency: Confirmation of a distinctive phenotype

T. Strom, T. Dörk, G. Mancini, 2020, American Journal of Medical Genetics. Part A.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

E. Salido, G. Nürnberg, M. Wolf, 2012, European Journal of Human Genetics.

Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Filippo Beleggia, G. Yigit, B. Wollnik, 2013, Human Genetics.

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Filippo Beleggia, G. Yigit, B. Wollnik, 2013, Human Genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer

Joanne P Young, A. Zibat, Yun Li, 2021, Genes, chromosomes & cancer.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Christie M. Buchovecky, B. Honig, D. Petrey, 2020, Human Genetics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease

G. Yigit, B. Wollnik, K. Streckfuss-Bömeke, 2022, Scientific Reports.

HACE1 deficiency leads to structural and functional neurodevelopmental defects

Jörg Menche, C. Henneberger, J. Penninger, 2019, Neurology: Genetics.

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

B. V. van Bon, A. Hoischen, H. Brunner, 2020, Nature Communications.

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity

T. Tan, J. Thiery, M. Speicher, 2020, EMBO molecular medicine.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

P. Nürnberg, J. Altmüller, Yun Li, 2021, European journal of human genetics : EJHG.

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

A. Hoischen, J. Veltman, S. Kamaci, 2013, Molecular genetics & genomic medicine.

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

R. Hegele, G. Nürnberg, P. Nürnberg, 2010, American journal of human genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome

P. Nürnberg, J. Altmüller, Yun Li, 2022, Clinical genetics.

Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome

G. Yigit, B. Wollnik, P. Burfeind, 2021, medRxiv.

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

A. Zibat, G. Yigit, B. Wollnik, 2021, bioRxiv.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Martin A. M. Reijns, M. Hurles, M. Maghnie, 2015, Nature Genetics.

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

H. Kayserili, P. Nürnberg, J. Altmüller, 2016, American journal of medical genetics. Part A.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

TRAIP regulates DNA double-strand break-induced ATM activation

M. Quadroni, D. Hohl, G. Yigit, 2021, bioRxiv.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

G. Stewart, J. Altmüller, Yun Li, 2019, Neurology: Genetics.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Markus M. Rinschen, M. Bertrand, O. de Backer, 2016, The New England journal of medicine.

Transient Antenatal Bartter ’ s Syndrome , and MAGED 2 Mutations

Markus M. Rinschen, M. Bertrand, T. Benzing, 2016 .

Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia

T. Dörk, E. Boltshauser, J. Altmüller, 2020, Neuropediatrics.

Molekulare Mechanismen des Seckel-Syndroms

G. Yigit, B. Wollnik, 2012, medizinische genetik.

Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy

G. Yigit, B. Wollnik, 2021, Medizinische Genetik.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

E. Valente, J. Seeger, E. Boltshauser, 2023, Orphanet Journal of Rare Diseases.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, Paul Roschger, Klaus Klaushofer, 2017, American journal of human genetics.

Mutations in CDK5RAP2 cause Seckel syndrome

H. Kayserili, G. Nürnberg, P. Nürnberg, 2015, Molecular genetics & genomic medicine.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

S. Banka, K. Girisha, A. Shukla, 2023, Human Genetics.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

D. Wieczorek, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

R. Christensen, P. Nürnberg, Shahida Moosa, 2017, Molecular genetics & genomic medicine.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

P. Nürnberg, J. Altmüller, Yun Li, 2021, Journal of Medical Genetics.

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

G. Yigit, B. Wollnik, G. Utine, 2015, American journal of medical genetics. Part A.

A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease

G. Yigit, B. Wollnik, K. Streckfuss-Bömeke, 2021, bioRxiv.

Genomic basis of syndromic short stature in an Algerian patient cohort

P. Nürnberg, Shahida Moosa, J. Altmüller, 2021, American journal of medical genetics. Part A.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

C. Dieterich, N. Matsumoto, K. Ogata, 2019, Human mutation.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, B. Venkatesh, H. Kayserili, 2017, American journal of human genetics.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

G. Yigit, S. Dreha-Kulaczewski, N. Reintjes, 2024, Human genetics.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

H. Kayserili, G. Yigit, B. Tuysuz, 2024, Fetal Diagnosis and Therapy.

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

P. Nürnberg, J. Altmüller, Filippo Beleggia, 2015, Human molecular genetics.