S. Alawbathani

发表

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

B. Venkatesh, M. Coleman, A. Bertoli-Avella, 2022, medRxiv.

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

A. Mégarbané, A. Bertoli-Avella, Ruslan Al-Ali, 2021, Clinical genetics.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

P. Nürnberg, J. Altmüller, S. Çırak, 2018, Cold Spring Harbor molecular case studies.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

A. Noegel, S. Lyonnet, C. Becker, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

A. El-Hattab, C. Beetz, Ruslan Al-Ali, 2022, Clinical genetics.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

P. Bauer, N. Ameziane, A. Bertoli-Avella, 2020, npj Genomic Medicine.

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

H. Hennies, P. Nürnberg, J. Altmüller, 2019, Molecular genetics & genomic medicine.

Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy

T. Todorov, A. Zibert, H. Schmidt, 2014 .

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

Xiao-xing Qu, Salem Alawbathani, Luming Sun, 2022, Molecular cytogenetics.

Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

F. Muntoni, P. Nürnberg, H. Topaloglu, 2020, American journal of medical genetics. Part A.

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

P. Bauer, A. Bertoli-Avella, C. Beetz, 2020, Clinical genetics.

A teaching tool about the fickle p value and other statistical principles based on real-life data

M. Michel, J. Salmanton-García, Floyd Hassenrück, 2021, Naunyn-Schmiedeberg's Archives of Pharmacology.