Martin W. Breuss

university of colorado

H指数:27

被引数:2,040

个人简介

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教育背景

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工作经历

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荣誉奖项

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CREPE (CREate Primers and Evaluate): A Computational Tool for Large-Scale Primer Design and Specificity Analysis

CREPE (CREate Primers and Evaluate)：一种用于大规模引物设计和特异性分析的计算工具

Genes

IF2.8

2026-03-030

OAAI

Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK

由于神经发育疾病基因LNPK中双等位基因剪接位点突变导致的跨外显子跳跃

Human Genetics and Genomics Advances

IF3.6

2025-11-060

OAAI

Genomic Mosaicism of the Brain: Origin, Impact, and Utility

NEUROSCIENCE BULLETIN

IF5.8

2023-10-292

OAAI

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

NATURE GENETICS

IF31.8

2023-01-1246

Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil H.; Donkels, Catharina; Westley Phillips, H.; Li, Zhen; Marsh, Ashley P. L.; Breuss, Martin; Ball, Laurel; Garcia, Camila Araujo Bernardino; George, Renee; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely; Stanley, Valentina; Nidhiry, Anna; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan G.; Kim, Se Hoon L.; Kang, Hoon-Chul W.; Schulze-Bonhage, Andreas; Haas, Carola; Urbach, Horst; Prinz, Marco; Limbrick, David A.; Gurnett, Christina; Smyth, Matthew C.; Sattar, Shifteh M.; Nespeca, Mark B.; Gonda, David V.; Imai, Katsumi Y.; Takahashi, Yukitoshi E.; Chen, Hsin-Hung B.; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva, Wilson; Machado, Helio M.; Mathern, Gary; Abyzov, Alexej; Baldassari, Sara; Baulac, Stephanie; Gleeson, Joseph G.

Control-independent mosaic single nucleotide variant detection with DeepMosaic

NATURE BIOTECHNOLOGY

IF41.7

2023-01-0217

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

ELIFE

IF0

2022-07-057

Sperm mosaicism: implications for genomic diversity and disease

TRENDS IN GENETICS

IF16.3

2021-10-0120

OAAI

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-04-066

OAAI

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

NEURON

IF15

2021-01-0130

OAAI

Chai, Guoliang; Webb, Alice; Li, Chen; Antaki, Danny; Lee, Sangmoon; Breuss, Martin W.; Lang, Nhi; Stanley, Valentina; Anzenberg, Paula; Yang, Xiaoxu; Marshall, Trevor; Gaffney, Patrick; Wierenga, Klaas J.; Chung, Brian Hon-Yin; Tsang, Mandy Ho-Yin; Pais, Lynn S.; Lovgren, Alysia Kern; VanNoy, Grace E.; Rehm, Heidi L.; Mirzaa, Ghayda; Leon, Eyby; Diaz, Jullianne; Neumann, Alexander; Kalverda, Arnout P.; Manfield, Iain W.; Parry, David A.; Logan, Clare, V; Johnson, Colin A.; Bonthron, David T.; Valleley, Elizabeth M. A.; Issa, Mahmoud Y.; Abdel-Ghafar, Sherif F.; Abdel-Hamid, Mohamed S.; Jennings, Patricia; Zaki, Maha S.; Sheridan, Eamonn; Gleeson, Joseph G.

A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-09-0815

OAAI

Ghosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; McDonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G.

The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories

GENOME BIOLOGY AND EVOLUTION

IF2.8

2020-09-022

OAAI

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

NATURE MEDICINE

IF50

2019-12-2374

OAAI

Breuss, Martin W.; Antaki, Danny; George, Renee D.; Kleiber, Morgan; James, Kiely N.; Ball, Laurel L.; Hong, Oanh; Mitra, Ileena; Yang, Xiaoxu; Wirth, Sara A.; Gu, Jing; Garcia, Camila A. B.; Gujral, Madhusudan; Brandler, William M.; Musaev, Damir; Nguyen, An; McEvoy-Venneri, Jennifer; Knox, Renatta; Sticca, Evan; Botello, Martha Cristina Cancino; Uribe Fenner, Javiera; Perez, Maria Carcel; Arranz, Maria; Moffitt, Andrea B.; Wang, Zihua; Hervas, Amaia; Devinsky, Orrin; Gymrek, Melissa; Sebat, Jonathan; Gleeson, Joseph G.

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

JOURNAL OF MEDICAL GENETICS

IF3.7

2019-10-056

OAAI

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

NEURON

IF15

2018-12-0136

OAAI

Tripathy, Ratna; Leca, Ines; van Dijk, Tessa; Weiss, Janneke; van Bon, Bregje W.; Sergaki, Maria Christina; Gstrein, Thomas; Breuss, Martin; Tian, Guoling; Bahi-Buisson, Nadia; Paciorkowski, Alexander R.; Pagnamenta, Alistair T.; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C.; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; Brunetti-Pierri, Nicola; D'Amico, Alessandra; Reymond, Alexandre; Voisin, Norine; Bernstein, Jonathan A.; Farrelly, Ellyn; Kini, Usha; Leonard, Thomas A.; Valence, Stephanie; Burglen, Lydie; Armstrong, Linlea; Hiatt, Susan M.; Cooper, Gregory M.; Aldinger, Kimberly A.; Dobyns, William B.; Mirzaa, Ghayda; Pierson, Tyler Mark; Baas, Frank; Chelly, Jamel; Cowan, Nicholas J.; Keays, David Anthony

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-08-0123

OAAI

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

HUMAN MOLECULAR GENETICS

IF3.2

2016-12-2317

OAAI

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (vol 99, pg 228, 2016)

AMERICAN JOURNAL OF HUMAN GENETICS