2016-present

  1. Li K, Angione K, Milunsky JM. Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. Microarrays 5(1),2; 2016.

  2. Shin M, Douglass LM, Milunsky JM, Rosman NP. The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? Journal of Child Neurology 1-5; 2016.

  3. Li CF, Milunsky JM. Smith–Lemli–Opitz Syndrome (SLOS) and the Fetus Journal of Fetal Medicine3(2), 51-53, 2016.

  4. Flynn MA, Douglass L, Mandeep R, Mian A, Milunsky JM: Deletion at 2q24.3-31.1 resulting in severe Epileptic Encephalopathy and Episodic Autonomic Storming. JICNA. 2016 16:118.

  5. Hajianpour MJ, Bombei H, Lieberman SM, Revell R, Krishna R, Gregorsok R, Kao S, Milunsky JM Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability. J Am Dent Assoc. 148(3), 157-163, 2017.

  6. Milunsky A. Sickle Cell Disease. N Engl J Med. 2017;377(3):304-305.

  7. Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky JM. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr. 65(4), 384-387, 2017.

  8. Milunsky A, Lazier J, Baldwin C, Young C, Primack D, Milunsky JM. Prenatal Diagnosis of Chronic Intestinal Pseudo-obstruction and Paternal Somatic Mosaicism for the ACTG2 Pathogenic Variant. Prenat Diagn. 37(12), 1254-1256, 2017.

  9. Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley T, Scherer S, Choufani S, Brudno M, Weksberg R. CHARGE and Kabuki syndromes: Unique DNA methylation signatures identify common molecular mechanisms in these clinically overlapping conditions. Am J Human Genet. 100(5), 773-788, 2017.

  10. van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R,  Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky JM, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CDL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Jun; 21(6):1295-1307.

  11. Dong W, Baldwin C, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a dominant MYH11 casual variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. Clin Genet. 2019 Nov; 96(5):473-477.

  12. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S,Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yagamata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP,Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019 Dec; 64(12): 1173-1186.

  13. Milunsky A, Milunsky JM, Dong W, Hovhannisyan H, Oates RD. A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts. J Assist Reprod Genet. 2020;37(2):471-475.

  14. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 Oct;28(10):1422-1431.

  15. van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Vergano SAS, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Wassink-Ruiter JSK, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, O’ Leary M, Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl- Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE, ARID1B-related disorder in 87 adults: natural history and self-sustainability, Genetics in Medicine Open (2024) Jul 23;2.

  16. Novak P, Systrom D, Marciano SP, Knief A, Felsenstein D, Giannetti MP, Hamilton MJ, Nicoloro-SantaBarbara J, Saco T, Castells M, Farhad K, Pilgrim DM, Mullally WJ, Milunsky JM, Milunsky A, Krier J. Hypermobile Ehlers-Danlos Syndrome: Autonomic, Cerebrovascular, and Neuropathic Features. Am J Med. July 17, 2025.

  17. Milunsky A, Milunsky JM, Hsu R. Abdominal Compression Syndromes in the Hypermobile Ehlers-Danlos Syndrome. Am J Med Genet A. 2025 Dec;197(12):e64182.

  18. Novak P, Systrom D, Witte A, Marciano SP, Felsenstein D, Milunsky JM, Milunsky A, Krier J, Fishman MC. Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome. PLoS One. 2026 Jan 23;21(1):e0341278.

  19. Sindvani R, Milunsky JM, Oates R. X-linked congenital bilateral absence of the vas deferens: a truncating pathogenic variant in ADGRG2: a case report, reproductive outcome, and literature review. J Assist Reprod Genet. 2026 Mar 6.