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Michiel J Noordam

Explore the profile of Michiel J Noordam including associated specialties, affiliations and a list of published articles. Areas
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Articles 11
Citations 283
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Recent Articles
1.
Rockweiler N, Ramu A, Nagirnaja L, Wong W, Noordam M, Drubin C, et al.
Science . 2023 Apr; 380(6641):eabn7113. PMID: 37053313
Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health remain unclear. To study the origins and...
2.
Oud M, Ramos L, OBryan M, McLachlan R, Okutman O, Viville S, et al.
Hum Mutat . 2017 Aug; 38(11):1592-1605. PMID: 28801929
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe...
3.
Jain S, Noordam M, Hoshi M, Vallania F, Conrad D
Kidney Int . 2014 Apr; 86(5):1049-55. PMID: 24759149
Single-cell genomics will enable studies of the earliest events in kidney development, although it is unclear if existing technologies are mature enough to generate accurate and reproducible data on kidney...
4.
Ramu A, Noordam M, Schwartz R, Wuster A, Hurles M, Cartwright R, et al.
Nat Methods . 2013 Aug; 10(10):985-7. PMID: 23975140
We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery...
5.
Lange J, Noordam M, van Daalen S, Skaletsky H, Clark B, Macville M, et al.
Genomics . 2013 May; 102(4):257-64. PMID: 23643616
Amplicons--large, nearly identical repeats in direct or inverted orientation--are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus...
6.
Lopes A, Aston K, Thompson E, Carvalho F, Goncalves J, Huang N, et al.
PLoS Genet . 2013 Apr; 9(3):e1003349. PMID: 23555275
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population. We hypothesized that men...
7.
Noordam M, Westerveld G, Hovingh S, van Daalen S, Korver C, van der Veen F, et al.
Hum Mol Genet . 2011 Mar; 20(12):2457-63. PMID: 21429917
The azoospermia factor c (AZFc) region harbors multi-copy genes that are expressed in the testis. Deletions of the AZFc region lead to reduced copy numbers of these genes. Four (partial)...
8.
Nickkholgh B, Noordam M, Hovingh S, van Pelt A, van der Veen F, Repping S
Fertil Steril . 2009 Nov; 94(5):1744-7. PMID: 19917507
Objective: To determine whether variation in testis-specific protein Y-encoded (TSPY) gene copy number affects semen quality. Design: Nested case-control study. Setting: University hospital. Patient(s): From a consecutive cohort of 1,016...
9.
Noordam M, van der Veen F, Repping S
Fertil Steril . 2006 Oct; 86(6):1801-2. PMID: 17055506
No abstract available.
10.
Noordam M, Repping S
Curr Opin Genet Dev . 2006 May; 16(3):225-32. PMID: 16650761
Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is...