Daniel L. Polla - Centogene GmbH | 人才画像

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Bio

I am a proactive and curious scientist, passionate about learning and applying science. My interests lie in gaining in depth knowledge and make use of my competencies in the area of molecular biology and genetics. During my PhD research, I focused on the identification of mutations in novel genes involved in autosomal recessive intellectual disability.

Research Interests

Papers共 12 篇Author StatisticsCo-AuthorSimilar Experts

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Biallelic Variants in TMEM222 Cause a New Autosomal Recessive Neurodevelopmental Disorder

Daniel L. Polla,Mohammad Ali Farazi Fard,Zahra Tabatabaei,Parham Habibzadeh,Olga A. Levchenko,Pooneh Nikuei,Periklis Makrythanasis,Mureed Hussain,Sandra von Hardenberg,Sirous Zeinali,Mohammad-Sadegh Fallah,Janneke H. M. Schuurs-Hoeijmakers,Mohsin Shahzad,Fareeha Fatima,Neelam Fatima,Laura Donker Kaat,Hennie T. Bruggenwirth,Leah R. Fleming, John Condie,Rafal Ploski,Agnieszka Pollak,Jacek Pilch,Nina A. Demina,Alena L. Chukhrova, Vasilina S. Sergeeva,Hanka Venselaar,Amira T. Masri,Hanan Hamamy,Federico A. Santoni,Katrin Linda,Zubair M. Ahmed,Nael Nadif Kasri,Arjan P. M. de Brouwer,Anke K. Bergmann, Sven Hethey,Majid Yavarian,Muhammad Ansar,Saima Riazuddin,Sheikh Riazuddin,Mohammad Silawi,Gaia Ruggeri,Filomena Pirozzi,Ebrahim Eftekhar,Afsaneh Taghipour Sheshdeh,Shima Bahramjahan,Ghayda M. Mirzaa,Alexander V. Lavrov,Stylianos E. Antonarakis,Mohammad Ali Faghihi,Hans van Bokhoven

Genetics in medicine（2021）

Cited6Views0WOSBibtex

De Novo Variants in MED12 Cause X-linked Syndromic Neurodevelopmental Disorders in 18 Females

D. L. Polla,E. J. Bhoj,J. B. G. M. Verheij,J. S. Klein Wassink-Ruiter,A. Reis,C. Deshpande,A. Gregor, K. Hill-Karfe,A. T. Vulto-van Silfhout,R. Pfundt,E. M. H. F. Bongers,H. Hakonarson,S. Berland, G. Gradek,S. Banka,K. Chandler, L. Gompertz, S. C. Huffels,C. T. R. M. Stumpel, R. Wennekes,A. P. A. Stegmann,W. Reardon,E. K. S. M. Leenders,B. B. A. de Vries,D. Li,E. Zackai,N. Ragge,S. A. Lynch,S. Cuddapah,H. van Bokhoven,C. Zweier,A. P. M. de Brouwer

Genetics in Medicine（2020）

Cited20Views0WOSBibtex

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E. L. M. Vissers,Sreehari Kalvakuri,Elke de Boer,Sinje Geuer,Machteld Oud, Inge van Outersterp,Michael Kwint, Melde Witmond,Simone Kersten,Daniel L. Polla, Dilys Weijers,Amber Begtrup,Kirsty McWalter,Anna Ruiz,Elisabeth Gabau,Jenny E. Morton,Christopher Griffith,Karin Weiss,Candace Gamble,James Bartley,Hilary J. Vernon, Kendra Brunet,Claudia Ruivenkamp,Sarina G. Kant,Paul Kruszka,Austin Larson,Alexandra Afenjar,Thierry Billette de Villemeur,Kimberly Nugent,F. Lucy Raymond,Hanka Venselaar,Florence Demurger,Claudia Soler-Alfonso,Dong Li,Elizabeth Bhoj,Ian Hayes,Nina Powell Hamilton,Ayesha Ahmad,Rachel Fisher,Myrthe van den Born,Marjolaine Willems,Arthur Sorlin,Julian Delanne,Sebastien Moutton,Philippe Christophe,Frederic Tran Mau-Them,Antonio Vitobello,Himanshu Goel,Lauren Massingham,Chanika Phornphutkul,Jennifer Schwab,Boris Keren,Perrine Charles,Maaike Vreeburg,Lenika De Simone,George Hoganson,Maria Iascone,Donatella Milani,Lucie Evenepoel,Nicole Revencu,D. Isum Ward,Kaitlyn Burns,Ian Krantz,Sarah E. Raible,Jill R. Murrell,Kathleen Wood,Megan T. Cho,Hans van Bokhoven,Maximilian Muenke,Tjitske Kleefstra,Rolf Bodmer,Arjan P. M. de Brouwer

The American Journal of Human Genetics（2020）

Cited40Views0WOSBibtex

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

AMERICAN JOURNAL OF HUMAN GENETICS（2019）

Cited34Views0WOSBibtex

A De Novo Variant in the X‐linked Gene CNKSR2 is Associated with Seizures and Mild Intellectual Disability in a Female Patient

Daniel L. Polla, Harriet R. Saunders,Bert B. A. de Vries,Hans van Bokhoven,Arjan P. M. de Brouwer

Molecular Genetics & Genomic Medicine（2019）

Cited14Views0WOSBibtex

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

Elodie M. Richard,Daniel L. Polla,Muhammad Zaman Assir,Minerva Contreras,Mohsin Shahzad,Asma A. Khan,Attia Razzaq,Javed Akram,Moazzam N. Tarar,Thomas A. Blanpied,Zubair M. Ahmed,Rami Abou Jamra,Dagmar Wieczorek,Hans van Bokhoven,Sheikh Riazuddin,Saima Riazuddin

AMERICAN JOURNAL OF HUMAN GENETICS（2019）

Cited56Views0WOSBibtex

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