Rady Children's Specialists of San Diego
Columbia University College of Physicians and Surgeons
UC San Diego
UC San Diego
Clinical Genetics, Pediatrics
Dr. Marilyn Jones is the clinical director of the Genetics and Dysmorphology Division at Rady Children's Hospital-San Diego and a professor of clinical pediatrics at UC San Diego.
Dr. Jones graduated from Wellesley College, from which she recently received the Alumnae Achievement Award. She earned her medical degree from Columbia University College of Physicians and Surgeons, where she was elected into the Alpha Omega Alpha Honor Society, before completing a pediatric residency and a fellowship in dysmorphology at UC San Diego.
A member and past president of the American Cleft Palate-Craniofacial Association, Dr. Jones directs the Cleft Palate and Craniofacial Treatment Programs at Rady Children's. She has also served as medical director of the Bernardy Center for Medically Fragile Children since 1980.
As director of the Prenatal Diagnosis Center at UC San Diego, Dr. Jones's research focuses on understanding the basis for normal and abnormal morphogenesis.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Galarreta CI, Wigby KM, Jones MC
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-MiÃ±aÃºr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL
Whole-exome sequencing reveals novel <i>USP9X</i> variant in female fetus with isolated agenesis of the corpus callosum.
Lenberg JL, Pretorius DH, Rupe ES, Jones MC, Ramos GA, Andreasen TS
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Å, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Å, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, ICSL Interpretation and Reporting Team., Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM, Care for Rare Canada Consortium.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF, RCIGM Investigators.
A fetal diagnostic center's referral rate for perinatal palliative care.
Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P
Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.
Ho YK, Turley M, Marc-Aurele KL, Jones MC, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A
Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children With Cleft Palate.
Kim E, Kanack MD, Dang-Vu MD, Carvalho D, Jones MC, Gosman AA
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS
The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting.
Richtsmeier JT, Jones MC, Lozanoff S, Trainor PA
Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency.
Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones MC, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, LÃ³pez-RodrÃguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S
See the full listing of this physician's publications on PubMed, a service of the National Library of Medicine.
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