Research & Literature

Congenital diaphragmatic hernia: does gestational age at diagnosis matter when evaluating morbidity and mortality?

Bouchghoul H, Senat MV, Storme L, et al.

American journal of obstetrics and gynecology 2015; (213(4)):535.e1-7.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Drury S, Williams H, Trump N, et al.

Prenatal diagnosis 2015; (35(10)):1010-7 doi:10.1002/pd.4675.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, et al.

American journal of medical genetics. Part A 2016; (170A(1)):94-102 doi:10.1002/ajmg.a.37378.

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

Khayat M, Tilghman JM, Chervinsky I, et al.

American journal of medical genetics. Part A 2016; (170A(1)):176-82 doi:10.1002/ajmg.a.37375.

Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.

Singh A, Pilli GS, Bannur H

Fetal and pediatric pathology 2016; (35(3)):192-8 doi:10.3109/15513815.2016.1155681.

PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.

Ihara S, Nakayama S, Murakami Y, et al.

Journal of cell science 2017; (130(3)):602-613 doi:10.1242/jcs.196717.

Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?

Avagliano L, Bulfamante GP, Massa V

Birth defects research 2017; (109(10)):771-777 doi:10.1002/bdr2.1045.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Alessandri JL, Gordon CT, Jacquemont ML, et al.

European journal of human genetics : EJHG 2018; (26(3)):340-349 doi:10.1038/s41431-017-0087-x.

Psychological Issues of Patient Transition from Intensive Care to Palliative Care.

Wholihan D

Critical care nursing clinics of North America 2019; (31(4)):547-556 doi:10.1016/j.cnc.2019.07.010.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Scott TM, Campbell IM, Hernandez-Garcia A, et al.

Journal of medical genetics 2022; (59(3)):270-278 doi:10.1136/jmedgenet-2020-107317.

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.

Kosinski P, Greczan M, Jezela-Stanek A

Frontiers in genetics 2021; (12()):674722 doi:10.3389/fgene.2021.674722.

A nationwide database analysis of demographics and outcomes related to Extracorporeal Membrane Oxygenation (ECMO) in congenital diaphragmatic hernia.

Snyder AN, Cheng T, Burjonrappa S

Pediatric surgery international 2021; (37(11)):1505-1513 doi:10.1007/s00383-021-04979-y.

Genetics of diaphragmatic hernia.

Schreiner Y, Schaible T, Rafat N

European journal of human genetics : EJHG 2021; (29(12)):1729-1733 doi:10.1038/s41431-021-00972-0.

When Fryn met Edward: Two rare syndromes in a single patient.

Nandan N, Raman VS, Dey S, Dwivedi D

Medical journal, Armed Forces India 2022; (78(1)):109-112 doi:10.1016/j.mjafi.2019.10.005.

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

Tian M, Chen J, Li J, et al.

BMC pediatrics 2022; (22(1)):222 doi:10.1186/s12887-022-03246-w.

End-of-life care quality for children with cancer who receive palliative care.

Ananth P, Lindsay M, Nye R, et al.

Pediatric blood & cancer 2022; (69(9)):e29841 doi:10.1002/pbc.29841.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Loong L, Tardivo A, Knaus A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(1)):37-48 doi:10.1016/j.gim.2022.09.007.

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.

Siavrienė E, Maldžienė Ž, Mikštienė V, et al.

Medicina (Kaunas, Lithuania) 2022; (58(11)) doi:10.3390/medicina58111526.

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Burgos CM, Gupta VS, Conner P, et al.

Prenatal diagnosis 2023; (43(10)):1265-1273 doi:10.1002/pd.6407.

Challenging Anaesthesia Management of a Patient with Fryns Syndrome: A Case Report.

Kaya C, Kendigelen P, Yılmaz KM, et al.

Turkish journal of anaesthesiology and reanimation 2023; (51(3)):275-277 doi:10.4274/TJAR.2022.221038.

Long-term follow-up of patients with congenital diaphragmatic hernia.

Cimbak N, Buchmiller TL

World journal of pediatric surgery 2024; (7(2)):e000758 doi:10.1136/wjps-2023-000758.

Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives.

Baschat AA, Desiraju S, Bernier ML, et al.

Translational pediatrics 2024; (13(4)):643-662 doi:10.21037/tp-23-602.

Long-term follow-up in congenital diaphragmatic hernia.

Pollack JC, Hollinger LE, Buchmiller TL, Jancelewicz T

Seminars in pediatric surgery 2024; (33(4)):151443 doi:10.1016/j.sempedsurg.2024.151443.

Ventilator strategies in congenital diaphragmatic hernia.

Kunisaki SM, Desiraju S, Yang MJ, et al.

Seminars in pediatric surgery 2024; (33(4)):151439 doi:10.1016/j.sempedsurg.2024.151439.

Prenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome: A Case Report.

Maritsa VA, Psarris A, Koutras A, et al.

Cureus 2024; (16(8)):e68000 doi:10.7759/cureus.68000.

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Luo C, Wen E, Liu Y, et al.

Molecular genetics & genomic medicine 2024; (12(10)):e70016 doi:10.1002/mgg3.70016.

Healthcare Professionals' Perspective on Supporting Patients and Family Caregivers in End-Of-Life Care Decision-Making: A Qualitative Study in Specialist Palliative Care.

Featherstone HJ, McQuillan R, Foley G

The American journal of hospice & palliative care 2025; (42(10)):1005-1011 doi:10.1177/10499091241296860.

Health system related kidney supportive care interventions for adults with chronic kidney disease: A systematic review.

Dharmagunawardene D, Kularatna S, Halahakone U, et al.

Journal of renal care 2025; (51(1)):e12517 doi:10.1111/jorc.12517.

Recurrence in congenital diaphragmatic hernia: A multicenter, postdischarge pilot study.

Gupta VS, Holden KI, Chiu PP, et al.

Surgery 2025; (181()):109209 doi:10.1016/j.surg.2025.109209.

Systems genetics reveals the influence of expression QTLs in mouse embryonic stem cells on transcriptional variation later in differentiated neural progenitor cells.

Aydin S, Skelly DA, Dewey HB, et al.

G3 (Bethesda, Md.) 2025; (15(7)) doi:10.1093/g3journal/jkaf099.

A call for lifelong follow-up in CDH: Identifying recurrence patterns and the importance of routine monitoring.

Klinke M, Weis M, Martel R, et al.

Journal of pediatric surgery 2026; (61(3)):162825 doi:10.1016/j.jpedsurg.2025.162825.

Postdischarge Follow-Up of Infants With Congenital Diaphragmatic Hernia: Clinical Report.

Jancelewicz T, Lucke A, Guillory C, et al.

Pediatrics 2026; (157(2)) doi:10.1542/peds.2025-074114.

Timing and outcomes of outpatient palliative care consultations in advanced cancer.

Torres-Tenor JL, Bruera E, Ortí-Hortelano MJ, et al.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2026; doi:10.1007/s12094-026-04276-x.