Year |
Citation |
Score |
2024 |
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. PMID 38723631 DOI: 10.1016/j.ajhg.2024.04.022 |
0.722 |
|
2024 |
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. PMID 38508193 DOI: 10.1016/j.ajhg.2024.03.009 |
0.694 |
|
2024 |
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. 111: 96-118. PMID 38181735 DOI: 10.1016/j.ajhg.2023.12.004 |
0.706 |
|
2023 |
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, et al. Rare variants in cause delayed development, intellectual disability, autism, and epilepsy. Medrxiv : the Preprint Server For Health Sciences. PMID 37034625 DOI: 10.1101/2023.03.27.23287689 |
0.696 |
|
2022 |
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT. An integrated phenotypic and genotypic approach reveals a high-risk subtype association for EBF3 missense variants affecting the zinc finger domain. Annals of Neurology. PMID 35340043 DOI: 10.1002/ana.26359 |
0.629 |
|
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