Volume 102; Issue 4

The American Journal of Human Genetics

Volume 102; Issue 4

1

L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals

Wu, Xiaowei, McPeek, Mary Sara

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

2

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

Dong, Frederick N., Amiri-Yekta, Amir, Martinez, Guillaume, Saut, Antoine, Tek, Julie, Stouvenel, Laurence, Lorès, Patrick, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Satre, Véronique, Brouillet, Soph

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.44 MB

english, 2018

3

Identification of Misclassified ClinVar Variants via Disease Population Prevalence

Shah, Naisha, Hou, Ying-Chen Claire, Yu, Hung-Chun, Sainger, Rachana, Caskey, C. Thomas, Venter, J. Craig, Telenti, Amalio

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 856 KB

english, 2018

4

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 47 KB

english, 2018

5

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, M

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

6

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Boddaert, Nath

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

7

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddhar

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 785 KB

english, 2018

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