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Research Interests

Papers共 174 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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合作机构
Biallellic variants in SNAPIN are associated with a novel foetal neuroanatomical phenotype
Maayke de Koning, Hammad Yousaf,Kelly Gilmore,Mariette Hoffer,Georgios Kellaris, Phebe Adama van Scheltema,Monique Haak,Cacha Peeters-Scholte,Delphine Heron, Boris Keren, Karen El Akouri,Sophie Lanone,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 42-42
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P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
Farid Ullah, Vincenzo Salpietro, Meghan Coghlan, Abhineet Sharma, Angelique Mercier,Anne McRae,Henry Houlden,Erica Davis
Genetics in Medicine Open (2024): 101582
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TNF promoter hypomethylation is associated with mucosal inflammation in IBD and anti-TNF response
Daniel S Levic,Donna Niedzwiecki, Apoorva Kandakatla, Norah S Karlovich, Arjun Juneja,Jieun Park, Christina Stolarchuk, Shanté Adams,Jason R Willer,Matthew R Schaner,Grace Lian,Caroline Beasley,
medRxiv : the preprint server for health sciences (2024)
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Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN
Tehseen Ullah Khan Afridi,Ambrin Fatima,Humayoon Shafique Satti,Zaineb Akram, Imran Khan Yousafzai, Wajahat Bin Naeem, Nasreen Fatima, Asmat Ali,Zafar Iqbal,Ayaz Khan, Muhammad Shahzad,Chunyu Liu,
Molecular Genetics and Genomicsno. 1 (2024): 1-9
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sri Varsha Kodiparthi, Georgios Kellaris, Sandrina P Correia, Tommy Stodberg, Christalena Sofokleous, Nikolaos Marinakis, Helena Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos,
medrxiv（2024）
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V. Dharmadhikari,Maria Alba Abad,Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub,
medrxiv（2024）
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