@franmartinezgr.bsky.social
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
November 10, 2025 at 5:18 PM
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? #RareDisease #Genetics www.nature.com/articles/s10...
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?
www.nature.com
November 9, 2025 at 2:12 PM
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? #RareDisease #Genetics www.nature.com/articles/s10...
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/...
November 8, 2025 at 4:41 PM
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/...
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
November 7, 2025 at 3:43 PM
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
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...
link.springer.com
November 6, 2025 at 3:12 PM
Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
November 5, 2025 at 10:54 AM
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
November 4, 2025 at 9:04 PM
CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
Complex de novo structural variants are an underestimated cause of rare disorders #RareDisease #Genetics www.nature.com/articles/s41...
November 3, 2025 at 8:31 PM
Complex de novo structural variants are an underestimated cause of rare disorders #RareDisease #Genetics www.nature.com/articles/s41...
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans #RareDisease #Genetics academic.oup.com/hmg/advance-...
November 3, 2025 at 3:08 PM
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans #RareDisease #Genetics academic.oup.com/hmg/advance-...
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function #RareDisease #Genetics #PGx www.cell.com/ajhg/abstrac...
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 ...
www.cell.com
November 2, 2025 at 7:48 AM
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function #RareDisease #Genetics #PGx www.cell.com/ajhg/abstrac...
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
November 1, 2025 at 5:42 PM
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis #RareDisease #Genetics www.nature.com/articles/s41...
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
www.nature.com
October 31, 2025 at 2:53 PM
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis #RareDisease #Genetics www.nature.com/articles/s41...
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity #RareDisease #Genetics www.cell.com/hgg-advances...
October 30, 2025 at 12:19 PM
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity #RareDisease #Genetics www.cell.com/hgg-advances...
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...
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 ...
link.springer.com
October 29, 2025 at 2:58 PM
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...
Discriminating activating, deactivating and resistance variants in protein kinases #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
October 29, 2025 at 7:13 AM
Discriminating activating, deactivating and resistance variants in protein kinases #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis #RareDisease #Genetics #morbigene www.nature.com/articles/s10...
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
www.nature.com
October 28, 2025 at 8:53 PM
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis #RareDisease #Genetics #morbigene www.nature.com/articles/s10...
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism. #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
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…
www.sciencedirect.com
October 28, 2025 at 4:53 PM
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism. #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling #RareDisease #Genetics #morbidgene academic.oup.com/brain/advanc...
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
academic.oup.com
October 27, 2025 at 6:18 PM
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling #RareDisease #Genetics #morbidgene academic.oup.com/brain/advanc...
Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
October 27, 2025 at 10:32 AM
Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
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....
onlinelibrary.wiley.com
October 26, 2025 at 6:45 PM
A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
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...
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…
www.sciencedirect.com
October 26, 2025 at 10:16 AM
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...
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
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
www.nature.com
October 25, 2025 at 11:05 AM
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
October 23, 2025 at 5:04 AM
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
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...
www.cell.com
October 22, 2025 at 8:11 PM
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
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 ...
genomemedicine.biomedcentral.com
October 21, 2025 at 8:19 PM
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....