K. Haude

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

H. Cui, Renkui Bai, Taosheng Huang, 2020, Human mutation.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia

Jeffrey M. Vinocur, K. Haude, C. Fong, 2015, HeartRhythm case reports.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular genetics.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Junying Yuan, Wanjin Li, Jinqiao Sun, 2019, Nature.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

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

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Analyzing the Role of Receptor Internalization in the Regulation of Melanin-Concentrating Hormone Signaling

A. Goodspeed, R. Carroll, K. Haude, 2013, International journal of endocrinology.

Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation

B. LeRoy, K. Haude, P. McCarthy Veach, 2017, Journal of Genetic Counseling.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Yuan Zhang, Wanjin Li, Jinqiao Sun, 2019, Nature.

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

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .