De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Year: April 16, 2025
Geneticist
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Zornitza Stark
Melbourne
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Services Offered by Zornitza Stark
Cockayne Syndrome Type 1
KBG Syndrome
Micrognathia
Saethre-Chotzen Syndrome
Acrocephalopolydactyly
Acromicric Dysplasia
Apert Syndrome
Cardiofaciocutaneous Syndrome
Cockayne Syndrome
Cockayne Syndrome Type 2
Cortical Dysplasia
Craniosynostosis
EEC Syndrome
Hypotonia
Leukodystrophy
Meningococcemia
Microcephaly Deafness Syndrome
Myoclonic Epilepsy
Perrault Syndrome
Pfeiffer Syndrome
Riboflavin Transporter Deficiency Neuronopathy
Sotos Syndrome
Syndactyly
West Syndrome
Achalasia Microcephaly Syndrome
Acrofacial Dysostosis Catania Type
Acrofacial Dysostosis Rodriguez Type
Acrofrontofacionasal Dysostosis Syndrome
Adenosine Monophosphate Deaminase Deficiency
Aplasia Cutis Congenita
Autism Spectrum Disorder
Axenfeld-Rieger Syndrome
Bartter Syndrome
Blue Cone Monochromatism
Choanal Atresia
Cholesteryl Ester Storage Disease
Chronic Kidney Disease
Clouston Syndrome
Coloboma
Color Blindness
Congenital Central Hypoventilation Syndrome
Congenital Diaphragmatic Hernia
Cornelia De Lange Syndrome
Costello Syndrome
Crouzon Syndrome
Delayed Growth
Diaphragmatic Hernia
Drug Induced Dyskinesia
Ectodermal Dysplasias
Epilepsy
Epilepsy in Children
Febrile Neutropenia
Fragile X Syndrome
Generalized Tonic-Clonic Seizure
Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
Gigantism
Hearing Loss
Hernia
Hirsutism in Women
Hydrocele
Hypercalcemia
Increased Head Circumference
Infant Epilepsy with Migrant Focal Crisis
Infantile Axonal Neuropathy
Intersex
Intrauterine Growth Restriction
Iridogoniodysgenesis Type 1
Lactic Acidosis
Leigh Syndrome
Lennox-Gastaut Syndrome (LGS)
Liver Failure
Meckel's Diverticulum
Metabolic Acidosis
Metopic Ridge
Microcephaly
Milk-Alkali Syndrome
Miller Syndrome
Mosaicism
Movement Disorders
Omphalocele
Osteopetrosis
Osteosclerosis Autosomal Dominant
Peripheral Neuropathy
Plagiocephaly
Polycystic Kidney Disease
Polymicrogyria
Pontocerebellar Hypoplasia
Premature Ovarian Failure
Primary Lateral Sclerosis
RASopathies
Seizures
Sideroblastic Anemia
Split Hand Foot Malformation
Stroke
Treacher Collins Syndrome
Turner Syndrome
Umbilical Hernia
Undescended Testicle
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Wiedemann-Steiner Syndrome
Williams Syndrome
Wolman Disease
About Of Zornitza Stark
Zornitza Stark helps people with many different health issues. Some of the conditions they work with include Cockayne Syndrome, Micrognathia, Epilepsy, Autism, Hearing Loss, and many more. Zornitza Stark is skilled in treating a wide range of medical problems.
Zornitza Stark is good at talking to patients and making them feel comfortable. Patients trust Zornitza Stark because they listen carefully and explain things in a way that is easy to understand. They are caring and kind, which helps patients feel safe and supported.
Zornitza Stark stays updated with the latest medical knowledge and research. This means they are always learning new things to provide the best care for their patients. They attend conferences, read medical journals, and collaborate with other experts in the field.
Zornitza Stark works well with other medical professionals. They have good relationships with their colleagues and believe in teamwork to help patients. By working together, they can provide better care and find solutions for complex medical problems.
Zornitza Stark's work has made a positive impact on many patients' lives. They have helped improve the health and well-being of people with various medical conditions. Their dedication and expertise have led to better outcomes for their patients.
One of Zornitza Stark's notable publications is "De novo variants in KDM2A cause a syndromic neurodevelopmental disorder." This research shows their commitment to advancing medical knowledge and finding new ways to help patients.
In summary, Zornitza Stark is a compassionate and knowledgeable medical professional who is dedicated to providing excellent care for their patients. They communicate well, stay updated with the latest research, collaborate with colleagues, and make a positive impact on the lives of those they treat.
Publications by Zornitza Stark
Patient Reviews for Zornitza Stark
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Frequently Asked Questions About Zornitza Stark
What conditions does Zornitza Stark specialize in as a Geneticist?
Zornitza Stark specializes in diagnosing and treating a wide range of genetic conditions and disorders, including but not limited to inherited diseases, chromosomal abnormalities, and genetic predispositions to certain health conditions.
What genetic testing services does Zornitza Stark offer?
Zornitza Stark offers comprehensive genetic testing services, including carrier screening, prenatal testing, diagnostic testing for genetic disorders, and personalized genetic counseling based on test results.
How can Zornitza Stark help individuals with a family history of genetic conditions?
Zornitza Stark can provide genetic counseling and testing for individuals with a family history of genetic conditions to assess their risk, provide guidance on preventive measures, and offer support in making informed healthcare decisions.
What is the process for genetic counseling with Zornitza Stark?
Genetic counseling with Zornitza Stark typically involves a detailed review of personal and family medical history, discussing genetic testing options, interpreting test results, and providing personalized recommendations for managing genetic risks.
Can Zornitza Stark assist with understanding the implications of genetic test results?
Yes, Zornitza Stark is experienced in interpreting genetic test results and can help patients understand the implications of their results, including discussing potential treatment options, preventive measures, and family planning considerations.
How can individuals schedule an appointment with Zornitza Stark for genetic counseling or testing?
Individuals interested in scheduling an appointment with Zornitza Stark for genetic counseling or testing can contact her office directly to inquire about availability, services offered, and insurance coverage options.
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