# Expanding the phenome and variome of skeletal dysplasia

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/expanding-the-phenome-and-variome-of-skeletal-dysplasia/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Sateesh Maddirevula,Saud Alsahli,Lamees Alhabeeb,Nisha Patel,Fatema Alzahrani,Hanan E. Shamseldin,Shams Anazi,Nour Ewida,Hessa S. Alsaif,Jawahir Y. Mohamed,Anas M. Alazami,Niema Ibrahim,Firdous Abdulwahab,Mais Hashem,Mohamed Abouelhoda,Dorota Monies,Nada Al Tassan,Muneera Alshammari,Afaf Alsagheir,Mohammed Zain Seidahmed,Samira Sogati,Mona Aglan,Muddathir H. Hamad,Mustafa A. Salih,Ahlam A. Hamed,Nadia Alhashmi,Amira Nabil,Fatima Alfadli,Ghada M. H. Abdel‐Salam,Hisham Alkuraya,Winnie Ong Peitee,Wee Teik Keng,Abdullah Qasem,Aziza Mushiba,Maha S. Zaki,Mahmoud R. Fassad,Majid Alfadhel,Saji Alexander,Yasser Sabr,Samia A. Temtamy,Alka V. Ekbote,Samira Ismail,Gamal Ahmed Hosny,Ghada A. Otaify,Khalda Amr,Saeed Al Tala,Arif O. Khan,Tamer Rizk,Aida I. Al‐Aqeel,Abdulmonem Alsiddiky,Ankur Singh,Seema Kapoor,Amal Alhashem,Eissa Faqeih,Ranad Shaheen,Fowzan S. Alkuraya |
| Citations | 73 |
| DOI | 10.1038/gim.2018.50 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.gimjournal.org/article/S1098360021000228/pdf |
| OpenAlex ID | https://openalex.org/W2795373022 |
| PMID | 29620724 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Khalda Amr](https://scholariq.org/researchers/khalda-amr/)

## Paper primary topic

- [Bone and Dental Protein Studies](https://scholariq.org/topics/bone-and-dental-protein-studies/)

## Paper topics

- [Bone and Dental Protein Studies](https://scholariq.org/topics/bone-and-dental-protein-studies/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.