🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Alexander M. Holtz

Boston Medical Center

ORCID: 0000-0002-1620-6519

Also affiliated with Boston Children's Hospital, Boston Children's Museum

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling”.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005
N/A
0.477DataRank · unranked
23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430
N/A
0DataRank · unranked
1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.12231
N/A
0DataRank · unranked
51 citations

Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick +17 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5
N/A
0DataRank · unranked
23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007
N/A
0DataRank · unranked
18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life Science Alliance(2024)10.26508/lsa.202302258
N/A
0DataRank · unranked
7 citations

Maya Slovik, Yuling Zhang, Bingyu Liu, Martin L. Rennie, Emily Konz +24 more