Christian P. Schaaf

MedicineBiochemistry, 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 14 papers. Top paper: “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway”.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.22

N/A

0.821DataRank · unranked

238 citations

Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Thomas Bast, Rebecca Crimian +29 more

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.61

N/A

0.136DataRank · unranked

1 citations

Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast +28 more

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

Human Molecular Genetics(2020)10.1093/hmg/ddz305

N/A

0DataRank · unranked

40 citations

Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo +5 more

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

PLoS Genetics(2020)10.1371/journal.pgen.1009106

N/A

0DataRank · unranked

11 citations

Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger +29 more

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Genes(2020)10.3390/genes11080853

N/A

0DataRank · unranked

28 citations

Chun-An Chun, Н. Н. Заваденко, Natalia L. Pechatnikova, Oxana Yu. Naumova, HarshaVardhan Doddapaneni +5 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder,apraxia, and insensitivity to pain

medRxiv(2020)10.1101/2020.09.10.20190314

N/A

0DataRank · unranked

1 citations

Georgi Stoyanov, Florian Erger, Jill A. Rosenfeld, Erin Torti, Chad Haldeman‐Englert +18 more

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in Medicine(2022)10.1016/j.gim.2022.05.001

N/A

0DataRank · unranked

25 citations

Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret L. Bostwick +36 more

A truncating mutation of Magel2 in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.09.503377

N/A

0DataRank · unranked

0 citations

Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiß +6 more

An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats

Nature Communications(2023)10.1038/s41467-023-36641-7

N/A

0DataRank · unranked

60 citations

Arthur Lefèvre, Ferdinand Althammer, Etienne Clauss Creusot, Olga Łąpieś, Hugues Petitjean +26 more

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Genetics in Medicine(2023)10.1016/j.gim.2023.100022

N/A

0DataRank · unranked

23 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome

Disease Models & Mechanisms(2023)10.1242/dmm.049829

N/A

0DataRank · unranked

10 citations

Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiß +6 more

Response to Beretich and Beretich

Genetics in Medicine(2023)10.1016/j.gim.2023.100903

N/A

0DataRank · unranked

0 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1

N/A

0DataRank · unranked

49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

Phenotypic and Imaging Spectrum Associated With WDR45

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.03.005

N/A

0DataRank · unranked

44 citations

Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini +17 more