@franmartinezgr.bsky.social
📤 26
📥 32
📝 254
PhD, Geneticist 🧬
https://www.linkedin.com/in/francisco-martinez-07484822
Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
about 13 hours ago
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0
0
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
2 days ago
0
1
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PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
#RareDisease
#Genetics
www.nature.com/articles/s10...
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PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? - Journal of Human Genetics
Journal of Human Genetics - PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
https://www.nature.com/articles/s10038-025-01429-8
4 days ago
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Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
4 days ago
0
2
0
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
6 days ago
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0
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Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons
#RareDisease
#Genetics
#morbidgene
link.springer.com/article/10.1...
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Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons - Human Genetics
Parkinson’s disease is a progressive neurodegenerative disorder characterized by symptoms such as bradykinesia, resting tremors, and muscle rigidity. Although several disease-causing genes of juvenile...
https://link.springer.com/article/10.1007/s00439-025-02783-5
7 days ago
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A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia
#RareDisease
#Genetics
#morbidgene
www.jci.org/articles/vie...
8 days ago
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CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
8 days ago
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Complex de novo structural variants are an underestimated cause of rare disorders
#RareDisease
#Genetics
www.nature.com/articles/s41...
9 days ago
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Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans
#RareDisease
#Genetics
academic.oup.com/hmg/advance-...
10 days ago
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The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
#RareDisease
#Genetics
#PGx
www.cell.com/ajhg/abstrac...
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The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
The Clinical Pharmacogenetics Implementation Consortium (CPIC) is dedicated to integrating pharmacogenetic testing into clinical practice by developing and disseminating peer-reviewed, evidence-based ...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00395-7
11 days ago
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Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
www.medrxiv.org/content/10.1...
11 days ago
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Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis
#RareDisease
#Genetics
www.nature.com/articles/s41...
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Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis - European Journal of Human Genetics
European Journal of Human Genetics - Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis
https://www.nature.com/articles/s41431-025-01973-z
13 days ago
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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
#RareDisease
#Genetics
www.cell.com/hgg-advances...
14 days ago
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Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
#RareDisease
#Genetics
link.springer.com/article/10.1...
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Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia - Human Genetics
Microtia-anotia is a common congenital anomaly. In most cases, the genetic etiology remains unknown. The proper development of outer ear is closely related to cranial neural crest cells. Abnormal DNA ...
https://link.springer.com/article/10.1007/s00439-025-02788-0
15 days ago
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1
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Discriminating activating, deactivating and resistance variants in protein kinases
#RareDisease
#Genetics
genomemedicine.biomedcentral.com/articles/10....
15 days ago
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NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis
#RareDisease
#Genetics
#morbigene
www.nature.com/articles/s10...
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NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis - Journal of Human Genetics
Journal of Human Genetics - NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis
https://www.nature.com/articles/s10038-025-01418-x
15 days ago
0
1
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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com/science/arti...
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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
The genetic etiology of infertility remains unknown. To identify genes for human infertility, we applied a de novo variant analysis in 142 parent-prob…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002709
15 days ago
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EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling
#RareDisease
#Genetics
#morbidgene
academic.oup.com/brain/advanc...
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EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling
Ulmke et al. show that mutations in EXOSC10 cause microcephaly. In mice, loss of Exosc10 leads to premature differentiation of neural progenitor cells, dis
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awaf405/8300602
16 days ago
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Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
17 days ago
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0
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A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
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A Novel SCN5A Missense Variant Associated With Familial Non‐Dilated Left Ventricular Cardiomyopathy
A novel SCN5A missense variant (p.Arg219Cys) segregated in a family with non-dilated left ventricular cardiomyopathy, manifesting as variable myocardial fibrosis on cardiac magnetic resonance and ele....
https://onlinelibrary.wiley.com/doi/10.1111/cge.70092
17 days ago
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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com/science/arti...
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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
Neurodevelopmental disorders (NDDs) are characterized by limitations in brain development. This study aims to determine the genetic causes of NDD in h…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002722
18 days ago
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0
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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa - European Journal of Human Genetics
European Journal of Human Genetics - RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
https://www.nature.com/articles/s41431-025-01964-0
19 days ago
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1
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
21 days ago
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1
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/abstrac...
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
Bi-allelic variants in RPS6KC1 cause a neurodevelopmental disorder with features overlapping with Coffin-Lowry syndrome. Functional studies reveal impaired ribosomal protein synthesis, disrupted lipid...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00391-X
21 days ago
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
#RareDisease
#Genetics
genomemedicine.biomedcentral.com/articles/10....
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser - Genome Medicine
Background Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants ...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01546-1
22 days ago
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1
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Recommendations for bioinformatics in clinical practice
#RareDisease
#Genetics
genomemedicine.biomedcentral.com/articles/10....
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Recommendations for bioinformatics in clinical practice - Genome Medicine
Background Next-generation sequencing (NGS) is well established in clinical diagnostics, and whole-genome sequencing (WGS) is increasingly becoming the method of choice, as a result of lower prices an...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01543-4
23 days ago
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A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
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A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene
De novo CCNK missense variant associated with mild intellectual disability, subtle dysmorphism (hypertelorism, depressed/broad nasal bridge), and ventriculomegaly. This case broadens the clinical spe....
https://onlinelibrary.wiley.com/doi/10.1111/cge.70093
26 days ago
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Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
#RareDisease
#Genetics
www.cell.com/hgg-advances...
26 days ago
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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
#RareDisease
#Genetics
#morbidgene
www.jci.org/articles/vie...
29 days ago
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0
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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
#RareDisease
#Genetics
#ClinGen
#ACMG
www.sciencedirect.com/science/arti...
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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCE…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002606
29 days ago
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1
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ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
#RareDisease
#Genetics
jmg.bmj.com/content/earl...
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ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Background Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures...
https://jmg.bmj.com/content/early/2025/10/08/jmg-2025-110631
30 days ago
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Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders
#RareDisease
#Genetics
#morbidgene
academic.oup.com/brain/advanc...
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Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders
Cai et al. have identified mutations in the SSPOP gene in children with epilepsy and developmental disorders, challenging its current classification as a p
https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awaf327/8283774
about 1 month ago
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CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection
#RareDisease
#Genetics
www.jci.org/articles/vie...
about 1 month ago
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1
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Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
about 1 month ago
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Interpreting Early ARID1B Loss-of-Function Variants: Divergent Views on Pathogenicity and Diagnostic Reporting
#RareDisease
#Genetics
genomemedicine.biomedcentral.com/articles/10....
genomemedicine.biomedcentral.com/articles/10....
about 1 month ago
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A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
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A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
We report RBM15 as a potential novel gene associated with congenital mirror movements (CMM), characterized by involuntary movements on one side of the body that mirror intentional movements on the opp...
https://www.cell.com/hgg-advances/fulltext/S2666-2477(25)00131-9
about 1 month ago
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Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
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Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene
Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, and epiphyseal dysplasia. Only four ARSS cases due to pathogenic variants in...
https://onlinelibrary.wiley.com/doi/10.1111/cge.70087
about 1 month ago
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De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1002/...
about 1 month ago
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Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
#RareDisease
#Genetics
www.nature.com/articles/s41...
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Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders - European Journal of Human Genetics
European Journal of Human Genetics - Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
https://www.nature.com/articles/s41431-025-01939-1
about 1 month ago
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0
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A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com/science/arti...
about 1 month ago
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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
about 1 month ago
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A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/fulltex...
about 1 month ago
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N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
about 1 month ago
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0
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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1002/...
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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Despite significant knowledge advances in recent decades, the role of most protein-coding genes in human disease remains incompletely understood. Exome sequencing continues to improve our understandi....
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64242
about 1 month ago
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Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
about 1 month ago
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LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s10...
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LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder - Journal of Human Genetics
Journal of Human Genetics - LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder
https://www.nature.com/articles/s10038-025-01410-5
about 2 months ago
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HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
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HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline
The PM1 criterion, which states that a variant is located in a mutational hot spot and/or critical and well-established functional domain without beni…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002382
about 2 months ago
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A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
about 2 months ago
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1
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Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com/science/arti...
about 2 months ago
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0
0
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