Overview
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Embryo Developmental Arrest (EDA) is one of the mechanisms responsible for an increased level of embryo demise during the first week of in vitro development. Around 10-15% embryos permanently arrest in mitosis at the 2-to 4-cell cleavage stage. It involves the downregulation and/or cessation of cell division and metabolic activity of the components involved in the formation and development of an embryo.
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Chromosomal abnormalities, abnormal preimplantation development and single gene disorders have been stated as causes of EDA and therefore, a known cause of infertility. The identification of abnormal gene changes previously known to have an effect on embryo development is crucial to improve pregnancy outcomes.
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The Igenomix Embryo Developmental Arrest Precision Panel can be used to make a directed and accurate differential diagnosis of inability to carry out a full pregnancy ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
The Igenomix Infertility Precision Panel is indicated for those patients with clinical suspicion of infertility presenting with the following manifestations:
- Inability to conceive after 1 year of unprotected intercourse
- Family history of infertility
- Personal or family history of recurrent miscarriages
- Previous failed IVF cycles
- Other failed assisted reproductive technology (ART) treatments
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART).
- Risk assessment of asymptomatic family members according to the mode of inheritance.
Genes & Diseases
All genes and diseases
| Gene | OMIM DISEASES | Inheritance* | % Gene Coverage (20x) | HGMD** |
| ABCD4 | Methylmalonic Aciduria And Homocystinuria | AR | 100 | 8 of 8 |
| ACTA2 | Multisystemic Smooth Muscle Dysfunction Syndrome | AD | 100 | 88 of 88 |
| ACTC1 | Atrial Septal Defect, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy, Familial Isolated Dilated Cardiomyopathy | AD | 99.93 | 72 of 74 |
| ACVRL1 | Osler-Rendu-Weber Syndrome | AD | 100 | 457 of 462 |
| AFF4 | CHOPS Syndrome, Short Stature-Skeletal Dysplasia Syndrome | AD | 99.42 | 6 of 6 |
| ALMS1 | Alstrom Syndrome | AR | 99.92 | 302 of 305 |
| ARHGAP31 | Adams-Oliver Syndrome | AD | 100 | 6 of 6 |
| ATP5F1A | Combined Oxidative Phosphorylation Deficiency, Mitochondrial Complex V (ATP Synthase) Deficiency | AR | 91.8 | NA of NA |
| BANF1 | Nestor-Guillermo Progeria Syndrome | AR | 100 | 1 of 1 |
| BMPR2 | Primary Pulmonary Hypertension, Pulmonary Venoocclusive Disease | AD | 99.99 | 590 of 600 |
| BTNL2 | Sarcoidosis | AD | 99.98 | 1 of 1 |
| CACNA1D | Primary Aldosteronism, Seizures, And Neurologic Abnormalities, Sinoatrial Node Dysfunction And Deafness | AD,AR | 100 | 18 of 18 |
| CAV1 | Primary Pulmonary Hypertension, Diffuse Cutaneous Systemic Sclerosis , Limited Cutaneous Systemic Sclerosis | AD,AR | 100 | 18 of 18 |
| CCN2 | Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis | – | 95.83 | NA of NA |
| CCR6 | Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis | – | 99.83 | NA of NA |
| CHST3 | Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects | AR | 99.97 | 38 of 38 |
| CITED2 | Atrial Septal Defect , Ventricular Septal Defect,Tetralogy Of Fallot | AD | 99.22 | 18 of 24 |
| CLCN7 | Hypopigmentation, Organomegaly, And Delayed Myelination And Development, Albers-Schonberg Osteopetrosis | AD,AR | 99.85 | 109 of 111 |
| COG1 | Congenital Disorder Of Glycosylation Type IIg | AR | 99.91 | 3 of 3 |
| COL1A1 | Caffey Disease , Ehlers-danlos Syndrome Type VII, Arthrochalasia Ehlers-Danlos Syndrome | AD | 99.98 | 1156 of 1159 |
| COL1A2 | Ehlers-Danlos Syndrome Arthrochalasia Type, Cardiac-Valvular Ehlers-Danlos Syndrome | AD,AR | 100 | 576 of 581 |
| COLQ | Synaptic Congenital Myasthenic Syndromes | AR | 100 | 70 of 71 |
| COX1 | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy | MI | na | na |
| COX2 | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes | MI | na | na |
| COX3 | Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Leber Hereditary Optic Neuropathy | MI | na | na |
| COX7B | Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies | X,XD,G | 99.97 | NA of NA |
| CTCF | Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome | AD | 96.6 | 39 of 41 |
| DLL4 | Adams-Oliver Syndrome | AD | 99.98 | 21 of 21 |
| DOCK6 | Adams-oliver Syndrome | AR | 98.06 | 37 of 37 |
| EIF2AK4 | Pulmonary Venoocclusive Disease | AR | 99.98 | 102 of 102 |
| ENG | Hereditary Hemorrhagic Telangiectasia, Generalized Juvenile Polyposis/Juvenile Polyposis Coli | AD | 100 | 467 of 471 |
| EOGT | Adams-oliver Syndrome | AR | 100 | 11 of 11 |
| FBN1 | Marfan Lipodystrophy Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Neonatal Marfan Syndrome, Shprintzen-Goldberg Syndrome | AD | 100 | 2836 of 2845 |
| FGFR1 | Hartsfield Syndrome, Jackson-Weiss Syndrome, Pfeiffer Syndrome, Hartsfield Syndrome | AD | 100 | 279 of 280 |
| FGFR3 | Crouzon Syndrome With Acanthosis Nigricans, Muenke Syndrome, Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, Crouzon Syndrome-Acanthosis Nigricans Syndrome, Saethre-Chotzen Syndrome | AD,AR | 99.89 | 77 of 78 |
| FIG4 | Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Yunis-Varon Syndrome | AD,AR | 99.92 | 72 of 72 |
| FLNA | Cardiac Valvular Dysplasia, Melnick-Needles Syndrome, X-linked Ehlers-Danlos Syndrome | X,XR,XD,G | 100 | NA of NA |
| FLNC | Familial Hypertrophic Cardiomyopathy, Filaminopathy, Distal Myopathy, Familial Isolated Restrictive Cardiomyopathy | AD | 100 | 185 of 186 |
| FOXF1 | Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins , Congenital Alveolar Capillary Dysplasia | AD | 95.93 | 74 of 96 |
| FOXP1 | Mental Retardation With Language Impairment And With Or Without Autistic Features, Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome | AD | 100 | 63 of 80 |
| G6PC3 | Severe Congenital Neutropenia | AR | 100 | 45 of 45 |
| GATA4 | Atrial Septal Defect, Atrioventricular Septal Defect, Testicular Anomalies With Or Without Congenital Heart Disease, Tetralogy Of Fallot, Ventricular Septal Defect | AD | 94.69 | 108 of 130 |
| GATA6 | Atrial Septal Defect, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Pancreatic Agenesis And Congenital Heart Defects, Tetralogy Of Fallot, Congenital Diaphragmatic Hernia Syndrome | AD,AR | 84.19 | 66 of 84 |
| GBA | Gaucher Disease, Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome | AD,AR | 100 | 469 of 471 |
| GDF2 | Hereditary Hemorrhagic Telangiectasia | AD | 98.58 | 51 of 57 |
| GJA1 | Atrioventricular Septal Defect, Hypoplastic Left Heart Syndrome | AD,AR,MU,O | 100 | 119 of 119 |
| HBB | Alpha-Thalassemia, Beta-Thalassemia, Sickle Cell Anemia, Delta-Beta-Thalassemia, Hemoglobin C-Beta-Thalassemia Syndrome, Hemoglobin E-Beta-Thalassemia Syndrome | AD,AR | 100 | 753 of 789 |
| HLA-B | Spondyloarthropathy, Behcet Disease, Takayasu Arteritis | MU | 99.55 | 1 of 1 |
| HLA-DRB1 | Multiple Sclerosis, Sarcoidosis, Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis | AD,MU | 97.19 | 2 of 2 |
| HSPG2 | Dyssegmental Dysplasia Silverman-Handmaker Type , Schwartz-Jampel Syndrome Type 1 | AR | 99.41 | 68 of 69 |
| IDUA | Hurler Syndrome, Hurler-Scheie Syndrome | AR | 99.73 | 287 of 292 |
| IKBKG | Ectodermal Dysplasia And Immunodeficiency | X,XR,XD,G | 38.16 | NA of NA |
| IL12B | Immunodeficiency, Takayasu Arteritis | AR | 100 | 12 of 12 |
| IRF5 | Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, Primary Biliary Cholangitis | – | 99.33 | 1 of 1 |
| JAK2 | Budd-Chiari Syndrome, Familial Erythrocytosis, Myelofibrosis With Myeloid Metaplasia, Polycythemia Vera, Essential Thrombocythemia, Primary Myelofibrosis | AD,AR | 99.63 | 25 of 27 |
| KCNK3 | Primary Pulmonary Hypertension | AD | 98.11 | 23 of 26 |
| KCNN4 | Dehydrated Hereditary Stomatocytosis | AD | 99.78 | 3 of 4 |
| KIAA0319L | Limited Cutaneous Systemic Sclerosis | – | 99.97 | NA of NA |
| KIF20A | Familial Isolated Restrictive Cardiomyopathy | – | 99.97 | 2 of 2 |
| KRAS | Cardiofaciocutaneous Syndrome, Noonan Syndrome, Pancreatic Cancer, Schimmelpenning-Feuerstein-Mims Syndrome, Toriello-Lacassie-Droste Syndrome | AD | 100 | 38 of 38 |
| KRT18 | Familial Cirrhosis With Pulmonary Hypertension | AD,AR | 100 | 14 of 14 |
| KRT8 | Familial Cirrhosis With Pulmonary Hypertension | AD,AR | 99.98 | 26 of 26 |
| LAMA2 | Muscular Dystrophy, Congenital Merosin-Deficient 1a, Limb-Girdle Muscular Dystrophy, Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy | AR | 100 | 363 of 377 |
| LAMB2 | Pierson Syndrome, Synaptic Congenital Myasthenic Syndromes | AR | 100 | 129 of 129 |
| LIFR | Stuve-Wiedemann Syndrome | AR | 99.81 | 33 of 33 |
| LIPA | Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease | AR | 99.91 | 103 of 104 |
| LIPT1 | Lipoyl Transferase Deficiency, Leigh Syndrome With Leukodystrophy | AR | 97.25 | 10 of 10 |
| LMNA | Dilated Cardiomyopathy, Charcot-Marie-Tooth Disease Type 2b1, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Malouf Syndrome, Lethal Restrictive Dermopathy | AD,AR | 100 | 619 of 620 |
| MED12 | Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, X-linked Intellectual Disability With Marfanoid Habitus | X,XR,G | 100 | NA of NA |
| MED25 | Basel-Vanagaite-Smirin-Yosef Syndrome, Charcot-Marie-Tooth Disease Type 2b2 | AR | 100 | 5 of 5 |
| MGP | Keutel Syndrome | AR | 99.93 | 7 of 7 |
| MLX | Takayasu Arteritis | 82.12 | NA of NA | |
| MPL | Myelofibrosis With Myeloid Metaplasia, Essential Thrombocythemia, Familial Thrombocytosis, Polycythemia Vera, Primary Myelofibrosis | AD,AR | 100 | 55 of 55 |
| MUC5B | Idiopathic Pulmonary Fibrosis | AD | 99.89 | 12 of 12 |
| MYH6 | Atrial Septal Defect, Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy | AD | 99.94 | 140 of 142 |
| MYPN | Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Nemaline Myopathy, Cap Myopathy, Familial Isolated Restrictive Cardiomyopathy | AD,AR | 99.94 | 49 of 49 |
| ND1 | Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome | MI | na | na |
| ND4 | Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome | MI | na | na |
| ND5 | Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome | MI | 99.89 | NA of NA |
| ND6 | Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome | MI | 100 | NA of NA |
| NFIX | Marshall-Smith Syndrome, Sotos Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome | AD | 94.42 | 75 of 81 |
| NFU1 | Multiple Mitochondrial Dysfunctions Syndrome | AR | 100 | 13 of 15 |
| NKX2-1 | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress, Brain-Lung-Thyroid Syndrome | AD | 97.04 | 115 of 123 |
| NKX2-5 | Atrial Septal Defect With Or Without Atrioventricular Conduction Defects, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot, Ventricular Septal Defect, Atrial Septal Defect, Familial Bicuspid Aortic Valve, Familial Progressive Cardiac Conduction Defect, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot | AD,AR | 99.98 | 112 of 116 |
| NOD2 | Inflammatory Bowel Disease, Yao Syndrome, Blau Syndrome | AD,MU | 100 | 97 of 97 |
| NOTCH1 | Adams-Oliver Syndrome, Aortic Valve Disease, Familial Bicuspid Aortic Valve | AD | 99.83 | 178 of 179 |
| PAM16 | Chondrodysplasia, Megarbane-Dagher-Melki Type | AR | 41 | 2 of 2 |
| PDSS1 | Coenzyme Q10 Deficiency | AR | 97.34 | 5 of 5 |
| PIEZO1 | Dehydrated Hereditary Stomatocytosis | AD,AR | 99.98 | 107 of 107 |
| PIGA | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Paroxysmal Nocturnal Hemoglobinuria, West Syndrome | X,XR,G | 97.98 | NA of NA |
| PIGN | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Fryns Syndrome | AR | 93.97 | 36 of 39 |
| PPCS | Dilated Cardiomyopathy | AR | 98.95 | 4 of 4 |
| RBPJ | Adams-Oliver Syndrome | AD | 99.98 | 8 of 8 |
| SARS2 | Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis | AR | 97.5 | 6 of 6 |
| SCARB2 | Action Myoclonus-Renal Failure Syndrome, Gaucher Disease, Unverricht-Lundborg Disease | AR | 99.95 | 29 of 29 |
| SFTPA2 | Idiopathic Pulmonary Fibrosis | AD | 99.98 | 6 of 6 |
| SFTPB | Pulmonary Surfactant Metabolism Dysfunction, Infant Acute Respiratory Distress Syndrome, Neonatal Acute Respiratory Distress Due To Sp-b Deficiency | AR | 100 | 27 of 27 |
| SFTPC | Idiopathic Pulmonary Fibrosis, Surfactant Metabolism Dysfunction, Infant Acute Respiratory Distress Syndrome | AD | 99.84 | 83 of 83 |
| SLC25A24 | Fontaine Progeroid Syndrome, Gorlin-Chaudhry-Moss Syndrome | AD | 99.59 | 2 of 2 |
| SLC29A3 | Histiocytosis-Lymphadenopathy Plus Syndrome, Dysosteosclerosis | AR | 100 | 32 of 32 |
| SLC37A4 | Glycogen Storage Disease Ib, Glycogen Storage Disease Ic | AR | 99.97 | 112 of 112 |
| SLC4A1 | Hereditary Spherocytosis, Dehydrated Hereditary Stomatocytosis | AD,AR | 100 | 139 of 139 |
| SMAD4 | Juvenile Polyposis Syndrome, Hereditary Hemorrhagic Telangiectasia, Myhre Syndrome | AD | 99.56 | 136 of 136 |
| SMAD9 | Primary Pulmonary Hypertension | AD | 99.97 | 35 of 35 |
| SNX10 | Osteopetrosis | AR | 100 | 14 of 14 |
| SPECC1L | Opitz Gbbb Syndrome | AD | 99.66 | 14 of 14 |
| STAT1 | Immunodeficiency, Mycobacterial And Viral Infections, Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome | AD,AR | 100 | 138 of 138 |
| TBX20 | Atrial Septal Defect Ostium Secundum Type | AD | 99.98 | 33 of 34 |
| TBX4 | Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension, Coxopodopatellar Syndrome | AD,AR | 99.72 | 91 of 94 |
| TCIRG1 | Osteopetrosis, Autosomal Dominant Severe Congenital Neutropenia, Dysosteosclerosis | AR | 100 | 140 of 146 |
| TERT | Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, Idiopathic Pulmonary Fibrosis, Hoyeraal-Hreidarsson Syndrome | AD,AR | 99.09 | 194 of 197 |
| THPO | Thrombocythemia, Familial Thrombocytosis | AD | 100 | 11 of 11 |
| TLL1 | Atrial Septal Defect Ostium Primum Type , Atrial Septal Defect Ostium Secundum Type | AD | 99.96 | 8 of 8 |
| TNFSF11 | Osteopetrosis | AR | 99.84 | 4 of 4 |
| TNNI3 | Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy | AD,AR | 100 | 139 of 139 |
| TNNT2 | Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy | AD | 100 | 169 of 169 |
| TRNF | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers | MI | NA | NA |
| TRNH | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers | – | NA | NA |
| TRNL1 | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome | MI | NA | NA |
| TRNQ | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes | MI | NA | NA |
| TRNS1 | Mitochondrial Complex IV Deficiency , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Mitochondrial DNA-Related Progressive External Ophthalmoplegia | AR,MI | NA | NA |
| TRNS2 | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Usher Syndrome Type 3 | MI | NA | NA |
| TRNW | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy , Mitochondrial DNA-associated Leigh Syndrome | AR,MI | NA | NA |
| UBE2A | Mental Retardation, X-linked, Syndromic, Nascimento Type | X,XR,G | 99.99 | NA of NA |
| VAC14 | Striatonigral Degeneration, Childhood-Onset, Yunis-Varon Syndrome | AR | 100 | 11 of 11 |
| VPS33A | Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders | AR | 97.86 | 1 of 1 |
| ZMPSTE24 | Mandibuloacral Dysplasia With Type B Lipodystrophy, Lethal Restrictive Dermopathy, Hutchinson-Gilford Progeria Syndrome | AR | 100 | 35 of 36 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to HGMD
References
Murphy, B. (2020). Under Arrest: The Embryo in Diapause. Developmental Cell, 52(2), 139-140. doi: 10.1016/j.devcel.2020.01.002
Levy, R. R., Cordonier, H., Czyba, J. C., & Guerin, J. F. (2001). Apoptosis in preimplantation mammalian embryo and genetics. Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologia, 106(2 Suppl 2), 101–108.
Mohebi, M., & Ghafouri-Fard, S. (2019). Embryo developmental arrest: Review of genetic factors and pathways. Gene Reports, 17, 100479. doi: 10.1016/j.genrep.2019.100479
Zhang, X., Stojkovic, P., Przyborski, S., Cooke, M., Armstrong, L., Lako, M., & Stojkovic, M. (2006). Derivation of Human Embryonic Stem Cells from Developing and Arrested Embryos. Stem Cells, 24(12), 2669-2676. doi: 10.1634/stemcells.2006-0377
Sha, Q. Q., Zheng, W., Wu, Y. W., Li, S., Guo, L., Zhang, S., Lin, G., Ou, X. H., & Fan, H. Y. (2020). Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans. Nature communications, 11(1), 4917. https://doi.org/10.1038/s41467-020-18680-6
Zhang, Y., Feng, Y., & Ma, F. (2020). Yi chuan = Hereditas, 42(10), 1004–1016. https://doi.org/10.16288/j.yczz.20-144
Feng, R., Yan, Z., Li, B., Yu, M., Sang, Q., Tian, G., Xu, Y., Chen, B., Qu, R., Sun, Z., Sun, X., Jin, L., He, L., Kuang, Y., Cowan, N. J., & Wang, L. (2016). Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. Journal of medical genetics, 53(10), 662–671. https://doi.org/10.1136/jmedgenet-2016-103891
Xu, Y., Shi, Y., Fu, J., Yu, M., Feng, R., & Sang, Q. et al. (2016). Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. The American Journal Of Human Genetics, 99(3), 744-752. doi: 10.1016/j.ajhg.2016.06.024
