@franmartinezgr.bsky.social
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/...
November 12, 2025 at 3:26 PM
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/...
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...
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...
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-...
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...
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...
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....
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...
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...
Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing #RareDisease #Genetics www.cell.com/hgg-advances...
October 17, 2025 at 8:08 PM
Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing #RareDisease #Genetics www.cell.com/hgg-advances...
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
October 15, 2025 at 3:22 PM
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection #RareDisease #Genetics www.jci.org/articles/vie...
October 12, 2025 at 4:09 PM
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection #RareDisease #Genetics www.jci.org/articles/vie...
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/...
October 10, 2025 at 6:50 PM
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/...
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....
October 9, 2025 at 7:36 AM
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....
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
October 6, 2025 at 5:59 PM
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
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...
October 3, 2025 at 8:49 AM
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...
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
October 2, 2025 at 9:44 AM
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
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...
October 1, 2025 at 5:38 AM
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...
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
September 30, 2025 at 2:14 PM
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
September 29, 2025 at 7:38 PM
Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...
September 25, 2025 at 3:29 PM
A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...