Filippo Beleggia

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.

Mutations in WNT1 cause different forms of bone fragility.

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

The Cdkn1aSUPER Mouse as a Tool to Study p53-Mediated Tumor Suppression.

R. Büttner, B. Schumacher, M. Pasparakis, 2018, Cell reports.

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.

Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation

O. Sarig, E. Sprecher, Filippo Beleggia, 2016, International journal of dermatology.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

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

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

S. Bohlander, K. Kagan, Filippo Beleggia, 2015, American journal of human genetics.

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors

Y. Shiloh, M. Fischer, D. Wieczorek, 2019, Cell.

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

G. Nürnberg, P. Nürnberg, Filippo Beleggia, 2013, Human Genetics.

Human RAD50 deficiency: Confirmation of a distinctive phenotype

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

Functional synapses between small cell lung cancer and glutamatergic neurons

G. Reifenberger, K. Conzelmann, R. Rad, 2023, bioRxiv.

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.

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

A. Rump, Filippo Beleggia, B. Wollnik, 2017, Human molecular genetics.

Emerging Technologies for Gene Identification in Rare Diseases

Filippo Beleggia, B. Wollnik, 2015 .

Targeting a non-oncogene addiction to the ATR/CHK1 axis for the treatment of small cell lung cancer

Roman K. Thomas, V. Walter, Filippo Beleggia, 2017, Scientific Reports.

Dual inhibition of GLUT1 and the ATR/CHK1 kinase axis displays synergistic cytotoxicity in KRAS-mutant cancer cells.

Filippo Beleggia, T. Persigehl, A. Schmitt, 2019, Cancer research.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

T. Wieland, T. Strom, D. Lowenstein, 2017, Human Genetics.

Ferroptosis response segregates small cell lung cancer (SCLC) neuroendocrine subtypes

Roman K. Thomas, M. Sos, Filippo Beleggia, 2020, Nature Communications.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Two mouse models reveal an actionable PARP1 dependence in aggressive chronic lymphocytic leukemia

M. Peifer, M. Hallek, M. Montesinos-Rongen, 2017, Nature Communications.

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 .

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Thomas Meitinger, Bernd Wollnik, T. Wieland, 2015, Human molecular 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.

ATM activity in T cells is critical for immune surveillance of lymphoma in vivo

A. Rosenwald, W. Klapper, A. Borkhardt, 2019, Leukemia.

UBQLN 4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors Graphical

Y. Shiloh, M. Fischer, D. Wieczorek, 2018 .

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

P. Nürnberg, W. Bloch, J. Altmüller, 2016, eLife.

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.

Targeting a non-oncogene addiction to the ATR/CHK1 axis for the treatment of small cell lung cancer

Roman K. Thomas, V. Walter, R. Büttner, 2017, Scientific Reports.

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies

Roman K. Thomas, A. Melnick, M. Peifer, 2022, Blood cancer discovery.

Two mouse models reveal an actionable PARP1 dependence in aggressive chronic lymphocytic leukemia

Yupeng Cun, Martin Peifer, Thorsten Persigehl, 2017, Nature Communications.

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.

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

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