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Human Genetics

Volume 138, March 2019, Issue 3, Pages 211-292

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1. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Tác giả

Ali Amar, Amar J. Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A. Braun.

2. NUP214 deficiency causes severe encephalopathy and microcephaly in humans

Tác giả

Hanan E. Shamseldin, Nawal Makhseed, Niema Ibrahim, Tarfa Al-Sheddi.

3. PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Tác giả

Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel-Salam.

4. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Tác giả

Corey Ruhno, Vicki L. McGovern, Matthew R. Avenarius, Pamela J. Snyder.

5. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Tác giả

Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa.

6. Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis

Tác giả

Zhaozhong Zhu, Yifei Lin, Xihao Li, Jane A. Driver, Liming Liang.

7. A response to “Personalised medicine and population health: breast and ovarian cancer”

Tác giả

Antonis Antoniou, Hoda Anton-Culver, Alexander Borowsky.

8. Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”

Tác giả

Steven A. Narod.