Subhadra Ramanathan, MSc, MS, CGC

Research output

Research output per year 2004 2018 2019 2020 2021 2022 2025

• 47 Article

Research output per year

Research output per year

Search results

• 2025

  Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

  Calame, D. G., Wong, J. H., Panda, P., Nguyen, D. T., Leong, N. C. P., Sangermano, R., Patankar, S. G., Abdel-Hamid, M. S., AlAbdi, L., Safwat, S., Flannery, K. P., Dardas, Z., Fatih, J. M., Murali, C., Kannan, V., Lotze, T. E., Herman, I., Ammouri, F., Rezich, B. & Efthymiou, S. & 47 others, Alavi, S., Murphy, D., Firoozfar, Z., Nasab, M. E., Bahreini, A., Ghasemi, M., Haridy, N. A., Goldouzi, H. R., Eghbal, F., Karimiani, E. G., Begtrup, A., Elloumi, H., Srinivasan, V. M., Gowda, V. K., Du, H., Jhangiani, S. N., Coban-Akdemir, Z., Marafi, D., Rodan, L., Isikay, S., Rosenfeld, J. A., Ramanathan, S., Staton, M., Oberg, K. C., Clark, R. D., Wenman, C., Loughlin, S., Saad, R., Ashraf, T., Male, A., Tadros, S., Boostani, R., Abdel-Salam, G. M. H., Zaki, M., Mardi, A., Hashemi-Gorji, F., Abdalla, E., Manzini, M. C., Pehlivan, D., Posey, J. E., Gibbs, R. A., Houlden, H., Alkuraya, F. S., Bujakowska, K., Maroofian, R., Lupski, J. R. & Nguyen, L. N., Jan 2025, In: Genetics in Medicine. 27, 1, 101273.

  Research output: Contribution to journal › Article › peer-review
• 2024

  Genetics Corner: A Consultation for Familial Polysyndactyly

  Ramanathan, S. & Clark, R. D., Jun 2024, In: Neonatology Today. 19, 6, p. 171-174 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: A Consultation for Joint Limitations that Developed After Birth

  Ramanathan, S., Wang, H. & Clark, R. D., Jul 2024, In: Neonatology Today. 19, 7, p. 178-182 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: PHOX2B-Associated Congenital Central Hypoventilation Syndrome in a 2-Year-Old Male with Autism

  Clark, R. D. & Ramanathan, S., Dec 2024, In: Neonatology Today. 19, 12, p. 185-187 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2023

  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

  Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D. & Jackson, M. & 77 others, Rentas, S., Tayoun, A. A., Zhe, Z., Abdul-Rahman, O., Allen, B., Angula, M. A., Anyane-Yeboa, K., Argente, J., Arn, P. H., Armstrong, L., Basel-Salmon, L., Baynam, G., Bird, L. M., Bruegger, D., Ch'ng, G. S., Chitayat, D., Clark, R., Cox, G. F., Dave, U., DeBaere, E., Field, M., Graham, J. M., Gripp, K. W., Greenstein, R., Gupta, N., Heidenreich, R., Hoffman, J., Hopkin, R. J., Jones, K. L., Jones, M. C., Kariminejad, A., Kogan, J., Lace, B., Leroy, J., Lynch, S. A., McDonald, M., Meagher, K., Mendelsohn, N., Micule, I., Moeschler, J., Nampoothiri, S., Ohashi, K., Powell, C. M., Ramanathan, S., Raskin, S., Roeder, E., Rio, M., Rope, A. F., Sangha, K., Scheuerle, A. E., Schneider, A., Shalev, S., Siu, V., Smith, R., Stevens, C., Tkemaladze, T., Toimie, J., Toriello, H., Turner, A., Wheeler, P. G., White, S. M., Young, T., Loomes, K. M., Pipan, M., Harrington, A. T., Zackai, E., Rajagopalan, R., Conlin, L., Deardorff, M. A., McEldrew, D., Pie, J., Ramos, F., Musio, A., Kline, A. D., Izumi, K., Raible, S. E. & Krantz, I. D., Aug 2023, In: American Journal of Medical Genetics, Part A. 191, 8, p. 2113-2131 19 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K. & Srinivasan, V. M. & 44 others, Bakhtiari, S., Kruer, M. C., Salih, M. A., Kuechler, A., Muller, E. A., Blocker, K., Kuismin, O., Park, K. L., Kochhar, A., Brown, K., Ramanathan, S., Clark, R. D., Elgizouli, M., Melikishvili, G., Tabatadze, N., Stark, Z., Mirzaa, G. M., Ong, J., Grasshoff, U., Bevot, A., von Wintzingerode, L., Jamra, R. A., Hennig, Y., Goldenberg, P., Al Alam, C., Charif, M., Boulouiz, R., Bellaoui, M., Amrani, R., Al Mutairi, F., Tamim, A. M., Abdulwahab, F., Alkuraya, F. S., Khouj, E. M., Alvi, J. R., Sultan, T., Hashemi, N., Karimiani, E. G., Ashrafzadeh, F., Imannezhad, S., Efthymiou, S., Houlden, H., Sticht, H. & Zweier, C., Aug 2023, In: Genetics in Medicine. 25, 8, 100885.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2022

  Genetics Corner: A Neonatal Case of Shwachman-Diamond Syndrome with Prominent Skeletal Anomalies Diagnosed by Whole Exome Sequencing

  Wang, H., Ramanathan, S., Hamamura, F. & Clark, R. D., Nov 2022, In: Neonatology Today. 17, 11, p. 135-140 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: An Infant with a Right Congenital Diaphragmatic Hernia and a Small 1h5q26.3 Deletion with Loss of IGF1R

  Clark, R. D. & Ramanathan, S., Aug 2022, In: Neonatology Today. 17, 8, p. 149-151 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Klippel-Trenaunay Syndrome in an Infant with a Mosaic PIK3CA Variant, a Target for the Medical Treatment of Asymmetric Overgrowth

  Clark, R. D. & Ramanathan, S., May 2022, In: Neonatology Today. 17, 5, p. 145-148 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child

  Ramanathan, S. & Clark, R. D., Dec 2022, In: Neonatology Today. 17, 12, p. 148-151 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Syndromic Etiology of Apparently Isolated Clubfeet: a Child with Loeys-Dietz Syndrome

  Ramanathan, S. & Clark, R. D., Apr 2022, In: Neonatology Today. 17, 4, p. 127-132 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: “Coat-hanger” ribs and Bell-Shaped Thorax in an Infant with Paternal Uniparental Disomy for Chromosome 14

  Ramanathan, S. & Clark, R. D., Jan 2022, In: Neonatology Today. 17, 1, p. 130-134 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

  Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., Denommé-Pichon, A. S., De Dios, J. K., England, E., Funalot, B., Gerard, M. & Joseph, M. & 19 others, Kennedy, C., Kumps, C., Willems, M., Van De Laar, I. M. B. H., Aarts-Tesselaar, C., Van Slegtenhorst, M., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L. S., Paterson, H., Ramanathan, S., Rodan, L. H., Superti-Furga, A., Chung, B. H. Y., Sherr, E., Netzer, C., Schaaf, C. P. & Erger, F., Jul 1 2022, In: Journal of Medical Genetics. 59, 7, p. 697-705 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2021

  CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

  Palmer, E. E., Whitton, C., Hashem, M. O., Clark, R. D., Ramanathan, S., Starr, L. J., Velasco, D., De Dios, J. K., Singh, E., Cormier-Daire, V., Chopra, M., Rodan, L. H., Nellaker, C., Lakhani, S., Mallack, E. J., Panzer, K., Sidhu, A., Wentzensen, I. M., Lacombe, D. & Michaud, V. & 1 others, Alkuraya, F. S., Oct 2021, In: Clinical Genetics. 100, 4, p. 468-477 10 p.

  Research output: Contribution to journal › Article › peer-review

• Genetics Corner: Cat-Eye-Syndrome and Genetic Syndromes Associated with Ear Anomalies

  Ramanathan, S. & Clark, R. D., Dec 2021, In: Neonatology Today. 16, 12, p. 128-132 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Multisuture Craniosynostosis Secondary to Intrauterine Constraint During Gestation in a Bicornuate Uterus

  Clark, R. D. & Ramanathan, S., Jun 2021, In: Neonatology Today. 16, 6, p. 131-133 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair

  Clark, R. D. & Ramanathan, S., Jan 2021, In: Neonatology Today. 16, 1, p. 143-147 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

  Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M. & Gates, R. & 25 others, Gomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

  Research output: Contribution to journal › Article › peer-review

• The Genetics Corner: A Mother and Child with Cleft lip and Palate Have an Atypical 1p36 Deletion that Disrupts KIF1B, a Cause of Autosomal Dominant Charcot-Marie-Tooth Disease, Type 2A1

  Ramanathan, S. & Clark, R. D., Aug 2021, In: Neonatology Today. 16, 8, p. 118-121 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: Pathogenic variants in DOCK6 mimic congenital viral infection in an SGA infant with VSD and intracranial calcifications

  Ramanathan, S. & Clark, R. D., Apr 2021, In: Neonatology Today. 16, 4, p. 124-126 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication

  Rajakumar, N., Ramanathan, S. & Clark, R. D., Mar 2021, In: Neonatology Today. 16, 3, p. 124-126 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2020

  Genetics Corner: A Lethal Ciliopathy Affects Two Siblings with Renal Dysplasia and Oligohydramnios

  Clark, R. D., Ramanathan, S. & Hernandez, D., Mar 2020, In: Neonatology Today. 15, 3, p. 66-69 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis

  Clark, R. D. & Ramanathan, S., Dec 2020, In: Neonatology Today. 15, 12, p. 111-113 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Townes-Brocks Syndrome in an Infant with Familial Imperforate Anus

  Ramanathan, S. & Clark, R. D., Nov 2020, In: Neonatology Today. 15, 11, p. 96-98 2 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Kabuki Syndrome in a Newborn with a Complex Left-Sided Cardiac Lesion and Persistent Hypoglycemia due to Hyperinsulinism

  Ramanathan, S. & Clark, R. D., Jun 2020, In: Neonatology Today. 15, 6, p. 104-105 2 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Consultation for Neonatal Diabetes Mellitus Reveals Uniparental Disomy 6

  Ramanathan, S., Wood, M. & Clark, R. D., May 2020, In: Neonatology Today. 15, 5, p. 82-84 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11

  Ramanathan, S. & Clark, R. D., Sep 2020, In: Neonatology Today. 15, 9, p. 95-97 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: Hypophosphatasia

  Wang, H., Rajakumar, N., Ramanathan, S. & Clark, R. D., Oct 2020, In: Neonatology Today. 15, 10, p. 99-103 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: Perisylvian Polymicrogyria and Seizures in One of Monochorionic Diamniotic Twins Following Twin-Twin-Transfusion Syndrome and in utero Laser Ablation Therapy

  Clark, R. D. & Ramanathan, S., Apr 2020, In: Neonatology Today. 15, 4, p. 71-74 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2019

  Genetics Corner: A Consultation for Wolf-Hirschhorn Syndrome

  Hernandez, D., Ramanathan, S. & Clark, R. D., Nov 2019, In: Neonatology Today. 14, 11, p. 79-82 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Down Syndrome Tool Kit- a Resource for Physicians Taking Care of Neonates

  Clark, R. D., Hernandez, D. & Ramanathan, S., Sep 2019, In: Neonatology Today. 14, 9, p. 83-87 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genetics Corner: Translocation Down syndrome

  Hernandez, D., Clark, R. D. & Ramanathan, S., Oct 2019, In: Neonatology Today. 14, 10, p. 72-74 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Consultation for Multiple Congenital Anomalies

  Ramanathan, S. & Clark, R. D., May 2019, In: Neonatology Today. 14, 5, p. 75-79 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Consultation for Agenesis Cutis Congenita and Methimazole Exposure

  Ramanathan, S. & Clark, R. D., Apr 2019, In: Neonatology Today. 14, 4, p. 57-59

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding

  Clark, R. D. & Ramanathan, S., Feb 2019, In: Neonatology Today. 14, 2, p. 59-61 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Consultation for Congenital Syphilis

  Clark, R. D. & Ramanathan, S., Jan 2019, In: Neonatology Today. 14, 1, p. 61-63 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Evaluation for Chronic Diarrhea that Revealed Incest

  Ramanathan, S. & Clark, R. D., Mar 2019, In: Neonatology Today. 14, 3, p. 67-68 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2018

  A Genetics Consultation for Family History of Hearing Loss

  Ramanathan, S. & Clark, R. D., Oct 2018, In: Neonatology Today. 18, 10, p. 49-51 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• A genetics consultation for multiple congenital dislocations

  Clark, R. D. & Ramanathan, S., Nov 2018, In: Neonatology Today. 13, 11, p. 57-59 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

  Stokes, B., Berger, S. I., Hall, B. A., Weiss, K., Martinez, A. F., Hadley, D. W., Murdock, D. R., Ramanathan, S., Clark, R. D., Roessler, E., Kruszka, P. & Muenke, M., Jan 2018, In: Congenital Anomalies. 58, 1, p. 29-32 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Consultation for Metopic Craniosynostosis and Skeletal Anomalies

  Ramanathan, S. & Clark, R. D., Jun 2018, In: Neonatology Today. 13, 6, p. 48-50 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Consultation for Orofacial Cleft: Van der Woude Syndrome

  Ramanathan, S., Marchosky, R. & Clark, R. D., Jul 2018, In: Neonatology Today. 13, 7, p. 46-47

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Consultation for Heterotaxy

  Ramanathan, S. & Clark, R. D., Dec 2018, In: Neonatology Today. 13, 12, p. 62-63 2 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• The Genetics Corner: A Genetics Consultation for Microtia, ASD and IUGR

  Ramanathan, S. & Clark, R. D., Sep 2018, In: Neonatology Today. 13, 9, p. 59-60 2 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2014

  Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

  Lindstrand, A., Davis, E. E., Carvalho, C. M. B., Pehlivan, D., Willer, J. R., Tsai, I. C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R. A., Banin, E., Lupski, J. R., Clark, R. & Katsanis, N., May 1 2014, In: American Journal of Human Genetics. 94, 5, p. 745-754 10 p.

  Research output: Contribution to journal › Article › peer-review
• 2012

  Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

  Muller, E. A., Aradhya, S., Atkin, J. F., Carmany, E. P., Elliott, A. M., Chudley, A. E., Clark, R. D., Everman, D. B., Garner, S., Hall, B. D., Herman, G. E., Kivuva, E., Ramanathan, S., Stevenson, D. A., Stockton, D. W. & Hudgins, L., Feb 2012, In: American Journal of Medical Genetics, Part A. 158 A, 2, p. 391-399 9 p.

  Research output: Contribution to journal › Article › peer-review
• 2004

  A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

  Ramanathan, S., Woodroffe, A., Flodman, P. L., Mays, L. Z., Hanouni, M., Modahl, C. B., Steinberg-Epstein, R., Bocian, M. E., Spence, M. A. & Smith, M., Apr 16 2004, In: BMC Medical Genetics. 5, 10.

  Research output: Contribution to journal › Article › peer-review

  Open Access