David Valle

Also affiliated with Johns Hopkins Medicine

Biochemistry, Genetics and Molecular BiologyMedicine

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 11 papers. Top paper: “The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities”.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Microdeletions of 3q29 Confer High Risk for Schizophrenia

The American Journal of Human Genetics(2010)10.1016/j.ajhg.2010.07.013

N/A

0.819DataRank · unranked

234 citations

Anne F. Dodd, John A. McGrath, Paula S. Wolyniec, Adele A. Mitchell, Vivien Sheehan +14 more

The Deep Genome Project

Genome biology(2020)10.1186/s13059-020-1931-9

N/A

0DataRank · unranked

44 citations

David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fátima Bosch, Kym M. Boycott +39 more

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Human Genetics(2021)10.1007/s00439-021-02300-4

N/A

0DataRank · unranked

44 citations

Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing +25 more

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

PLoS Genetics(2022)10.1371/journal.pgen.1010504

N/A

0DataRank · unranked

14 citations

Renan Paulo Martin, Elizabeth Wohler, Elizabeth Partan, Elizabeth Walek, Shaima Salman +13 more

Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine

Clinical Autonomic Research(2023)10.1007/s10286-023-01004-1

N/A

0DataRank · unranked

8 citations

Maxime Lammens, Carley Blevins, Kristen Rodgers, Andrei Gurau, Suguru Yamauchi +13 more

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63501

N/A

0DataRank · unranked

3 citations

Elizabeth Wohler, Renan Paulo Martin, Heather N. Di Carlo, William B. Isaacs, Joan Ko +6 more

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

Revista Paulista de Pediatria(2023)10.1590/1984-0462/2023/41/2022057

N/A

0DataRank · unranked

2 citations

Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez +5 more

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

JIMD Reports(2023)10.1002/jmd2.12361

N/A

0DataRank · unranked

1 citations

Ryan H. Peretz, Angela Pipitone Dempsey, Jacquelyn Britton, Lisa E. Kratz, Ada Hamosh +4 more

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

Frontiers in Genetics(2024)10.3389/fgene.2024.1266210

N/A

0DataRank · unranked

3 citations

Nikolai A. Sopko, Nara Sobreira, Simeon A. Boyadjiev, Elizabeth Wohler, Christian Morrill +6 more